Variant report

Variant	nsv997864
Chromosome Location	chr1:214778658-214994142
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1775)
CpG islands
(count:1526)
Chromatin interactive
region (count:126)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1775 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:214851580-214852141	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:214801287-214801860	HepG2	liver:	n/a	n/a
3	BACH1	chr1:214819730-214820815	K562	blood:	n/a	n/a
4	BACH1	chr1:214814708-214816805	K562	blood:	n/a	n/a
5	BACH1	chr1:214900725-214900844	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr1:214801311-214801357	K562	blood:	n/a	n/a
7	BHLHE40	chr1:214900647-214900925	HepG2	liver:	n/a	n/a
8	BHLHE40	chr1:214801338-214801822	K562	blood:	n/a	n/a
9	BRCA1	chr1:214982328-214982560	H1-hESC	embryonic stem cell:	n/a	n/a
10	CCNT2	chr1:214967191-214967381	K562	blood:	n/a	n/a
11	CEBPB	chr1:214830691-214831040	HepG2	liver:	n/a	chr1:214830847-214830860 chr1:214830847-214830860 chr1:214830848-214830859 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830847-214830858
12	CEBPB	chr1:214788449-214788718	IMR90	lung:	n/a	n/a
13	CEBPB	chr1:214903328-214903334	K562	blood:	n/a	n/a
14	CEBPB	chr1:214834086-214834891	IMR90	lung:	n/a	n/a
15	CEBPB	chr1:214903198-214903404	HepG2	liver:	n/a	chr1:214903317-214903328
16	CEBPB	chr1:214827405-214827704	HepG2	liver:	n/a	chr1:214827550-214827561
17	CEBPB	chr1:214827546-214827625	H1-hESC	embryonic stem cell:	n/a	chr1:214827550-214827561
18	CEBPB	chr1:214810530-214810957	MCF-7	breast:	n/a	chr1:214810843-214810855 chr1:214810773-214810784
19	CEBPB	chr1:214965337-214965585	Hela-S3	cervix:	n/a	chr1:214965420-214965431
20	CEBPB	chr1:214927682-214927970	IMR90	lung:	n/a	n/a
21	CEBPB	chr1:214967046-214967437	MCF-7	breast:	n/a	chr1:214967244-214967255
22	CEBPB	chr1:214843437-214843658	HepG2	liver:	n/a	n/a
23	CEBPB	chr1:214786670-214786783	A549	lung:	n/a	n/a
24	CEBPB	chr1:214987721-214987756	HepG2	liver:	n/a	n/a
25	CEBPB	chr1:214827406-214827698	IMR90	lung:	n/a	chr1:214827550-214827561
26	CEBPB	chr1:214967073-214967426	K562	blood:	n/a	chr1:214967244-214967255
27	CEBPB	chr1:214965168-214965730	MCF-7	breast:	n/a	chr1:214965420-214965431
28	CEBPB	chr1:214965293-214965553	H1-hESC	embryonic stem cell:	n/a	chr1:214965420-214965431
29	CEBPB	chr1:214843376-214843736	HepG2	liver:	n/a	n/a
30	CEBPB	chr1:214827426-214827654	Hela-S3	cervix:	n/a	chr1:214827550-214827561
31	CEBPB	chr1:214843500-214843544	K562	blood:	n/a	n/a
32	CEBPB	chr1:214851794-214851979	HepG2	liver:	n/a	n/a
33	CEBPB	chr1:214965247-214965601	HepG2	liver:	n/a	chr1:214965420-214965431
34	CEBPB	chr1:214918465-214918660	H1-hESC	embryonic stem cell:	n/a	chr1:214918552-214918563
35	CEBPB	chr1:214830671-214831071	A549	lung:	n/a	chr1:214830847-214830860 chr1:214830847-214830860 chr1:214830848-214830859 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830847-214830858
36	CEBPB	chr1:214965237-214965625	IMR90	lung:	n/a	chr1:214965420-214965431
37	CEBPB	chr1:214834681-214834734	K562	blood:	n/a	n/a
38	CEBPB	chr1:214830675-214831037	A549	lung:	n/a	chr1:214830847-214830860 chr1:214830847-214830860 chr1:214830848-214830859 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830847-214830858
39	CEBPB	chr1:214967073-214967433	HepG2	liver:	n/a	chr1:214967244-214967255
40	CEBPB	chr1:214820341-214820549	A549	lung:	n/a	n/a
41	CEBPB	chr1:214967062-214967392	ECC-1	luminal epithelium:	n/a	chr1:214967244-214967255
42	CEBPB	chr1:214801560-214801803	HepG2	liver:	n/a	n/a
43	CEBPB	chr1:214919261-214919341	HepG2	liver:	n/a	chr1:214919286-214919297
44	CEBPB	chr1:214843415-214843673	IMR90	lung:	n/a	n/a
45	CEBPB	chr1:214927766-214927987	A549	lung:	n/a	n/a
46	CEBPB	chr1:214880706-214880907	IMR90	lung:	n/a	n/a
47	CEBPB	chr1:214801594-214801837	A549	lung:	n/a	n/a
48	CEBPB	chr1:214918459-214918695	HepG2	liver:	n/a	chr1:214918552-214918563
49	CEBPB	chr1:214856975-214857193	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr1:214967058-214967439	IMR90	lung:	n/a	chr1:214967244-214967255

(count:1526 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:214782555-214782605	Jurkat	blood:	n/a
2	chr1:214782555-214782605	Jurkat	blood:	n/a
3	chr1:214781663-214781713	NB4	blood:	n/a
4	chr1:214779620-214779670	AoSMC	blood vessel:	n/a
5	chr1:214782434-214782484	SKMC	muscle:	n/a
6	chr1:214813712-214813762	Hela-S3	cervix:	n/a
7	chr1:214781904-214781954	AG04449	skin:	fetal
8	chr1:214781904-214781954	SK-N-SH	brain:	n/a
9	chr1:214926917-214926967	RPTEC	kidney:	n/a
10	chr1:214781904-214781954	HRCEpiC	kidney:	n/a
11	chr1:214779620-214779670	Hela-S3	cervix:	n/a
12	chr1:214785523-214785573	NB4	blood:	n/a
13	chr1:214832208-214832258	HNPCEpiC	eye:	n/a
14	chr1:214837903-214837953	T-47D	breast:	n/a
15	chr1:214926740-214926790	HPAEpiC	pulmonary alveolar:	n/a
16	chr1:214813712-214813762	U87	brain:	n/a
17	chr1:214779430-214779480	HEK293	kidney:	embryo
18	chr1:214781904-214781954	NH-A	brain:	n/a
19	chr1:214846567-214846617	SAEC	small airway:	n/a
20	chr1:214881338-214881388	HCT-116	colon:	n/a
21	chr1:214926917-214926967	ProgFib	skin:	n/a
22	chr1:214779620-214779670	ovcar-3	ovarian:	n/a
23	chr1:214857122-214857172	HPAEpiC	pulmonary alveolar:	n/a
24	chr1:214926740-214926790	HNPCEpiC	eye:	n/a
25	chr1:214782654-214782704	HEEpiC	esophagus:	n/a
26	chr1:214779657-214779707	HUVEC	blood vessel:	n/a
27	chr1:214779620-214779670	H1-hESC	embryonic stem cell:	embryo
28	chr1:214926740-214926790	HEEpiC	esophagus:	n/a
29	chr1:214779430-214779480	HRPEpiC	eye:	n/a
30	chr1:214846567-214846617	NT2-D1	testis:	n/a
31	chr1:214779620-214779670	HCT-116	colon:	n/a
32	chr1:214779620-214779670	SK-N-MC	brain:	n/a
33	chr1:214781904-214781954	GM12878	blood:	n/a
34	chr1:214782654-214782704	H1-hESC	embryonic stem cell:	embryo
35	chr1:214781904-214781954	HL-60	blood:	n/a
36	chr1:214781663-214781713	HEK293	kidney:	embryo
37	chr1:214926917-214926967	NHDF-neo	bronchial:	n/a
38	chr1:214813712-214813762	MCF10A-Er-Src	breast:	n/a
39	chr1:214781663-214781713	NHDF-neo	bronchial:	n/a
40	chr1:214788192-214788242	HCM	heart:	n/a
41	chr1:214926946-214926996	SK-N-SH	brain:	n/a
42	chr1:214781663-214781713	HL-60	blood:	n/a
43	chr1:214926740-214926790	AG10803	skin:	n/a
44	chr1:214881338-214881388	SK-N-SH	brain:	n/a
45	chr1:214782434-214782484	HCPEpiC	choroid plexus:	n/a
46	chr1:214782555-214782605	GM19239	blood:	n/a
47	chr1:214842875-214842925	U87	brain:	n/a
48	chr1:214837903-214837953	GM12892	blood:	n/a
49	chr1:214842875-214842925	SK-N-SH_RA	brain:	n/a
50	chr1:214781663-214781713	AG09309	skin:	n/a

(count:126 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:214830099..214835545-chr1:214836589..214841157,5	K562	blood:
2	chr1:214831928..214832819-chr1:215249703..215250277,2	MCF-7	breast:
3	chr1:214904477..214906839-chr1:214908051..214910386,2	K562	blood:
4	chr1:214808186..214810904-chr1:214813905..214816278,2	K562	blood:
5	chr1:214833894..214834885-chr1:215699492..215700543,5	MCF-7	breast:
6	chr1:214989020..214991888-chr1:214992425..214995415,2	K562	blood:
7	chr1:214775306..214778067-chr1:214791738..214793252,2	K562	blood:
8	chr1:214804097..214806246-chr1:214807582..214811806,3	K562	blood:
9	chr1:214804097..214807282-chr1:214807582..214811109,4	K562	blood:
10	chr1:214831894..214832787-chr1:215690669..215691583,8	MCF-7	breast:
11	chr1:214833941..214834902-chr1:215696603..215697420,3	MCF-7	breast:
12	chr1:214916105..214918875-chr1:214919117..214921438,3	K562	blood:
13	chr1:214830099..214835545-chr1:214836589..214841157,5	K562	blood:
14	chr1:214801262..214803726-chr1:214809634..214812012,2	MCF-7	breast:
15	chr1:214834027..214834925-chr1:214981557..214982784,3	MCF-7	breast:
16	chr1:214839860..214841922-chr1:214842947..214845039,2	K562	blood:
17	chr1:214836037..214838803-chr1:214843803..214845441,2	K562	blood:
18	chr1:214848812..214851960-chr1:214852511..214855713,3	MCF-7	breast:
19	chr1:214796160..214799538-chr1:214799766..214802874,3	K562	blood:
20	chr1:214764019..214764657-chr1:214801288..214801935,2	MCF-7	breast:
21	chr1:214818661..214820186-chr17:59886646..59888355,2	MCF-7	breast:
22	chr1:214774784..214777425-chr1:214779446..214783969,6	K562	blood:
23	chr1:214981872..214982949-chr1:215249210..215250250,4	MCF-7	breast:
24	chr1:214863732..214866545-chr1:214866872..214869269,3	MCF-7	breast:
25	chr1:214929273..214931149-chr1:214931765..214933333,2	K562	blood:
26	chr1:214776329..214778755-chr1:214793412..214795053,3	K562	blood:
27	chr1:214796160..214799538-chr1:214799766..214802874,3	K562	blood:
28	chr1:214834027..214834925-chr1:214981557..214982784,3	MCF-7	breast:
29	chr1:214929273..214931149-chr1:214931765..214933333,2	K562	blood:
30	chr1:214867721..214869870-chr1:214873799..214876588,2	K562	blood:
31	chr1:214959246..214960854-chr1:214992460..214995435,2	K562	blood:
32	chr1:214904477..214906839-chr1:214908051..214910386,2	K562	blood:
33	chr1:214873009..214875224-chr1:214881454..214883484,2	K562	blood:
34	chr1:214839860..214842177-chr1:214843539..214846062,2	K562	blood:
35	chr1:214832291..214832816-chr1:215696580..215697541,3	MCF-7	breast:
36	chr1:214986903..214989682-chr1:214990379..214992112,2	K562	blood:
37	chr1:214786498..214788310-chr1:214819229..214821847,2	K562	blood:
38	chr1:214961510..214963625-chr1:214964294..214966473,3	K562	blood:
39	chr1:214840354..214842406-chr1:215740144..215741858,2	MCF-7	breast:
40	chr1:214836468..214838785-chr1:214840006..214842640,2	K562	blood:
41	chr1:214833968..214834951-chr1:215319332..215320214,6	MCF-7	breast:
42	chr1:214818577..214820281-chr3:161090587..161092715,2	MCF-7	breast:
43	chr1:214833954..214834916-chr1:215249431..215250403,7	MCF-7	breast:
44	chr1:214981501..214983168-chr1:215319349..215320262,5	MCF-7	breast:
45	chr1:214964650..214967515-chr1:214968725..214970577,2	MCF-7	breast:
46	chr1:214800806..214805673-chr1:214807375..214811280,6	MCF-7	breast:
47	chr1:214832044..214832744-chr1:215319419..215320008,2	MCF-7	breast:
48	chr1:214791981..214793760-chr1:214793960..214796575,2	K562	blood:
49	chr1:214916105..214918875-chr1:214919117..214921438,2	K562	blood:
50	chr1:214387373..214389349-chr1:214805200..214808187,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPN14-6	chr1:214786303-214786741	NONHSAT009468

No data

Variant related genes	Relation type
CENPF	TF binding region
ABHD17AP3	TF binding region
ENSG00000224584	TF binding region
CENPF	CpG island
ABHD17AP3	CpG island
ENSG00000224584	CpG island
ENSG00000143499	chromatin interactions
ENSG00000250536	chromatin interactions
ENSG00000224584	chromatin interactions
ENSG00000136636	chromatin interactions
ENSG00000117724	chromatin interactions
ENSG00000196542	chromatin interactions

Extended variants
information (count: 4860 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:4860 , 50 per page) page: 1 2 3 4 5 6 7 ... 98

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182771798	chr1:214778687-214778688	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs187461707	chr1:214778717-214778718	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs542203451	chr1:214778721-214778722	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs562115327	chr1:214778736-214778737	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs374312552	chr1:214778752-214778753	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs545356550	chr1:214778754-214778755	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs566948083	chr1:214778755-214778756	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs370016032	chr1:214778782-214778783	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs199572634	chr1:214778784-214778785	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs535923081	chr1:214778786-214778787	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs140355597	chr1:214778798-214778799	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs547884534	chr1:214778799-214778800	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs570890723	chr1:214778800-214778801	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs533328935	chr1:214778824-214778825	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs550008782	chr1:214778840-214778841	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs28715929	chr1:214778899-214778900	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs117198057	chr1:214778910-214778911	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs569234144	chr1:214778915-214778916	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs538241817	chr1:214778928-214778929	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs535756392	chr1:214778929-214778930	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs547831083	chr1:214778946-214778947	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs568072066	chr1:214778958-214778959	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs533621203	chr1:214778960-214778961	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs553806705	chr1:214778974-214778975	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs377670454	chr1:214778975-214778976	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs577056904	chr1:214778980-214778981	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs539632176	chr1:214778984-214778985	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs191490984	chr1:214779003-214779004	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs576356808	chr1:214779013-214779014	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs76561183	chr1:214779031-214779032	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs55810324	chr1:214779062-214779063	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs561898776	chr1:214779081-214779082	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs572389748	chr1:214779099-214779100	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs111648472	chr1:214779147-214779148	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs2457960	chr1:214779152-214779153	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs533292663	chr1:214779164-214779165	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs183044974	chr1:214779167-214779168	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs377515841	chr1:214779185-214779186	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs563544266	chr1:214779189-214779190	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs188430800	chr1:214779206-214779207	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs549668974	chr1:214779208-214779209	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566281886	chr1:214779219-214779220	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs533777603	chr1:214779234-214779235	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs547115089	chr1:214779240-214779241	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs570520086	chr1:214779315-214779316	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112373976	chr1:214779331-214779332	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs556365364	chr1:214779345-214779346	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs113296548	chr1:214779347-214779348	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs199765011	chr1:214779354-214779355	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs535324109	chr1:214779361-214779362	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22522925	CNVD
Primary hepatocellular	22912832	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1407 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214777200-214779200	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr1:214777400-214778800	Flanking Active TSS	HUVEC	blood vessel
3	chr1:214777600-214779600	Weak transcription	Gastric	stomach
4	chr1:214777600-214782600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:214777600-214800400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:214777600-214810800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:214777600-214838600	Weak transcription	Esophagus	oesophagus
8	chr1:214777800-214778800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:214777800-214778800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:214777800-214778800	Active TSS	Fetal Brain Female	brain
11	chr1:214777800-214778800	Active TSS	Fetal Thymus	thymus
12	chr1:214777800-214779000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:214777800-214780800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:214777800-214781000	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:214777800-214838400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:214778000-214778800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:214778000-214779000	Enhancers	Fetal Stomach	stomach
18	chr1:214778000-214780800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:214778000-214839200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:214778200-214778800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:214778200-214778800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:214778200-214778800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:214778200-214778800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:214778200-214778800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:214778200-214778800	Enhancers	HepG2	liver
26	chr1:214778200-214778800	Enhancers	NHLF	lung
27	chr1:214778200-214779200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:214778200-214780400	Weak transcription	Fetal Intestine Small	intestine
29	chr1:214778200-214780800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:214778200-214780800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:214778200-214781000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr1:214778200-214782400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:214778200-214782600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:214778200-214782600	Weak transcription	Fetal Lung	lung
35	chr1:214778200-214783000	Weak transcription	Fetal Kidney	kidney
36	chr1:214778200-214786600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:214778200-214786600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr1:214778200-214791200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:214778200-214791200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:214778200-214793000	Weak transcription	HSMM	muscle
41	chr1:214778200-214793600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:214778200-214793800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:214778200-214803600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:214778400-214778800	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr1:214778400-214778800	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr1:214778400-214778800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:214778400-214778800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:214778400-214778800	Enhancers	HMEC	breast
49	chr1:214778400-214778800	Enhancers	NHDF-Ad	bronchial
50	chr1:214778400-214779200	Enhancers	Fetal Heart	heart

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