Variant report

Variant	esv3418280
Chromosome Location	chr7:126987216-126989064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:477)
CpG islands
(count:307)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:477 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr7:126987603-126988067	K562	blood:	n/a	n/a
2	BACH1	chr7:126987734-126988023	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr7:126987748-126988175	GM12878	blood:	n/a	n/a
4	BCLAF1	chr7:126987623-126988049	GM12878	blood:	n/a	n/a
5	BHLHE40	chr7:126987588-126988333	K562	blood:	n/a	n/a
6	BHLHE40	chr7:126987792-126988212	GM12878	blood:	n/a	n/a
7	BRCA1	chr7:126987712-126988010	H1-hESC	embryonic stem cell:	n/a	n/a
8	BRCA1	chr7:126987644-126987923	HepG2	liver:	n/a	n/a
9	CBX3	chr7:126987442-126988067	K562	blood:	n/a	n/a
10	CCNT2	chr7:126987613-126988330	K562	blood:	n/a	n/a
11	CEBPB	chr7:126987664-126987912	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr7:126987698-126988060	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr7:126987857-126987961	HepG2	liver:	n/a	n/a
14	CHD2	chr7:126987726-126987876	K562	blood:	n/a	n/a
15	CHD2	chr7:126987706-126988036	H1-hESC	embryonic stem cell:	n/a	n/a
16	CREB1	chr7:126987580-126988211	K562	blood:	n/a	n/a
17	CREB1	chr7:126987741-126988222	A549	lung:	n/a	n/a
18	CREB1	chr7:126987748-126988232	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr7:126987632-126988082	T-47D	breast:	n/a	n/a
20	CTCF	chr7:126988120-126988270	GM12869	blood:	n/a	n/a
21	CTCF	chr7:126988240-126988390	HMEC	breast:	n/a	n/a
22	CTCF	chr7:126987820-126987970	GM12865	blood:	n/a	n/a
23	CTCF	chr7:126987840-126987990	HAc	cerebellar:	n/a	n/a
24	CTCF	chr7:126987580-126987730	GM06990	blood:	n/a	n/a
25	CTCF	chr7:126987820-126987970	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr7:126988141-126988208	GM12878	blood:	n/a	n/a
27	CTCF	chr7:126987658-126988298	ProgFib	skin:	n/a	n/a
28	CTCF	chr7:126987820-126987970	HMEC	breast:	n/a	n/a
29	CTCF	chr7:126987766-126988067	A549	lung:	n/a	n/a
30	CTCF	chr7:126988180-126988330	HMF	breast:	n/a	n/a
31	CTCF	chr7:126988080-126988230	GM12865	blood:	n/a	n/a
32	CTCF	chr7:126987800-126987950	AoAF	blood vessel:	n/a	n/a
33	CTCF	chr7:126987760-126987910	HPF	lung:	n/a	n/a
34	CTCF	chr7:126988260-126988410	HFF	foreskin:	n/a	n/a
35	CTCF	chr7:126987780-126987930	HEK293	kidney:	n/a	n/a
36	CTCF	chr7:126988180-126988330	MCF-7	breast:	n/a	n/a
37	CTCF	chr7:126988160-126988310	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr7:126987733-126988021	GM13976	blood:	n/a	n/a
39	CTCF	chr7:126987780-126987930	HL-60	blood:	n/a	n/a
40	CTCF	chr7:126987800-126987950	HCFaa	heart:	n/a	n/a
41	CTCF	chr7:126987697-126988272	Fibrobl	skin:	n/a	n/a
42	CTCF	chr7:126987640-126988257	GM12892	blood:	n/a	n/a
43	CTCF	chr7:126988120-126988270	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr7:126988140-126988290	GM12875	blood:	n/a	n/a
45	CTCF	chr7:126988200-126988350	A549	lung:	n/a	n/a
46	CTCF	chr7:126987780-126987930	GM12864	blood:	n/a	n/a
47	CTCF	chr7:126988180-126988330	AG09309	skin:	n/a	n/a
48	CTCF	chr7:126987760-126987910	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr7:126987780-126987930	Caco-2	colon:	n/a	n/a
50	CTCF	chr7:126987661-126987999	T-47D	breast:	n/a	n/a

(count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:126988262-126988312	SK-N-SH_RA	brain:	n/a
2	chr7:126988262-126988312	HRE	kidney:	n/a
3	chr7:126988262-126988312	SK-N-SH_RA	brain:	n/a
4	chr7:126988262-126988312	HRE	kidney:	n/a
5	chr7:126988262-126988312	HMEC	breast:	n/a
6	chr7:126988262-126988312	HCPEpiC	choroid plexus:	n/a
7	chr7:126988120-126988170	A549	lung:	n/a
8	chr7:126988120-126988170	HCPEpiC	choroid plexus:	n/a
9	chr7:126988120-126988170	HL-60	blood:	n/a
10	chr7:126988262-126988312	GM12892	blood:	n/a
11	chr7:126987682-126987732	PANC-1	pancreas:	n/a
12	chr7:126987840-126987890	PANC-1	pancreas:	n/a
13	chr7:126987840-126987890	GM12878	blood:	n/a
14	chr7:126987682-126987732	H1-hESC	embryonic stem cell:	embryo
15	chr7:126988262-126988312	T-47D	breast:	n/a
16	chr7:126988262-126988312	SK-N-SH	brain:	n/a
17	chr7:126987840-126987890	AG09309	skin:	n/a
18	chr7:126988232-126988282	H1-hESC	embryonic stem cell:	embryo
19	chr7:126987840-126987890	GM06990	blood:	n/a
20	chr7:126988232-126988282	MCF-7	breast:	n/a
21	chr7:126987840-126987890	NHDF-neo	bronchial:	n/a
22	chr7:126988232-126988282	Jurkat	blood:	n/a
23	chr7:126987682-126987732	NHDF-neo	bronchial:	n/a
24	chr7:126988120-126988170	PFSK-1	brain:	n/a
25	chr7:126988232-126988282	HRCEpiC	kidney:	n/a
26	chr7:126987682-126987732	HEK293	kidney:	embryo
27	chr7:126987682-126987732	U87	brain:	n/a
28	chr7:126987840-126987890	SAEC	small airway:	n/a
29	chr7:126988232-126988282	BJ	skin:	n/a
30	chr7:126988232-126988282	GM12892	blood:	n/a
31	chr7:126988120-126988170	HPAEpiC	pulmonary alveolar:	n/a
32	chr7:126987682-126987732	LNCaP	prostate:	n/a
33	chr7:126988232-126988282	HepG2	liver:	n/a
34	chr7:126988232-126988282	IMR90	lung:	fetal
35	chr7:126987682-126987732	Caco-2	colon:	n/a
36	chr7:126988120-126988170	AG04449	skin:	fetal
37	chr7:126987840-126987890	SK-N-SH	brain:	n/a
38	chr7:126987682-126987732	SAEC	small airway:	n/a
39	chr7:126987682-126987732	NHBE	bronchial:	n/a
40	chr7:126987840-126987890	ProgFib	skin:	n/a
41	chr7:126988262-126988312	HRCEpiC	kidney:	n/a
42	chr7:126987840-126987890	AG09319	gingival:	n/a
43	chr7:126988232-126988282	HPAEpiC	pulmonary alveolar:	n/a
44	chr7:126988232-126988282	HEK293	kidney:	embryo
45	chr7:126988262-126988312	SKMC	muscle:	n/a
46	chr7:126987682-126987732	AoSMC	blood vessel:	n/a
47	chr7:126987682-126987732	NB4	blood:	n/a
48	chr7:126988262-126988312	HEEpiC	esophagus:	n/a
49	chr7:126988262-126988312	NT2-D1	testis:	n/a
50	chr7:126988232-126988282	NB4	blood:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:126987640..126988151-chr7:127849704..127850461,2	MCF-7	breast:
2	chr7:126987125..126989269-chr7:127032034..127034121,3	K562	blood:
3	chr7:126987395..126988347-chr7:127156521..127157053,2	K562	blood:
4	chr7:126985391..126987885-chr7:127220985..127222536,2	MCF-7	breast:
5	chr7:126987864..126988465-chr7:127847991..127848717,2	MCF-7	breast:
6	chr7:126986706..126988243-chr7:127024325..127027268,2	K562	blood:
7	chr7:126987414..126988399-chr7:127154646..127155519,3	MCF-7	breast:
8	chr7:126985955..126988348-chr7:127020622..127023787,3	K562	blood:
9	chr7:126987666..126988359-chr7:127047527..127048847,7	MCF-7	breast:
10	chr7:126979918..126982217-chr7:126984570..126987487,3	K562	blood:
11	chr7:126975549..126977117-chr7:126985194..126987625,2	MCF-7	breast:
12	chr7:126986399..126988206-chr7:127024325..127027237,2	K562	blood:
13	chr7:126985529..126987852-chr7:126995561..126998469,2	K562	blood:
14	chr7:126986612..126990415-chr7:127030676..127033732,5	MCF-7	breast:
15	chr7:126894392..126896260-chr7:126987799..126989472,2	K562	blood:
16	chr7:126987100..126989492-chr7:127030062..127031935,2	K562	blood:
17	chr7:126985549..126992875-chr7:127029251..127034121,12	K562	blood:
18	chr7:126985498..126988348-chr7:127020185..127023787,5	K562	blood:
19	chr7:126987461..126988081-chr7:127049072..127050341,3	MCF-7	breast:
20	chr7:126985770..126989525-chr7:127030949..127034199,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224138	TF binding region
ENSG00000224138	CpG island
ENSG00000048405	chromatin interactions

Extended variants
information (count: 51 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564792278	chr7:126987234-126987235	Active TSS Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs62468916	chr7:126987295-126987296	Active TSS Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs150828533	chr7:126987297-126987298	Active TSS Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs559286830	chr7:126987343-126987344	Active TSS Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs529683330	chr7:126987409-126987410	Active TSS Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs548263082	chr7:126987416-126987417	Active TSS Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs5887335	chr7:126987432-126987433	Active TSS Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs569808653	chr7:126987475-126987476	Active TSS Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs537601112	chr7:126987497-126987498	Active TSS Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs552805265	chr7:126987551-126987552	Active TSS Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs571129598	chr7:126987618-126987619	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs79527888	chr7:126987623-126987624	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs181486597	chr7:126987714-126987715	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs553422611	chr7:126987753-126987754	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs574775728	chr7:126987763-126987764	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs535523162	chr7:126987843-126987844	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs368497692	chr7:126987852-126987853	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs556997331	chr7:126987854-126987855	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs575340394	chr7:126987861-126987862	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs530680469	chr7:126987918-126987919	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs185590048	chr7:126988151-126988152	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs564753578	chr7:126988213-126988214	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs372225744	chr7:126988238-126988239	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs190194510	chr7:126988260-126988261	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs182410813	chr7:126988278-126988279	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs17862359	chr7:126988290-126988291	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs374126934	chr7:126988307-126988308	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs76541857	chr7:126988360-126988361	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs541470674	chr7:126988376-126988377	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs368430250	chr7:126988436-126988437	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs34268008	chr7:126988459-126988460	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs17868961	chr7:126988474-126988475	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs386360145	chr7:126988486-126988487	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs71179570	chr7:126988501-126988502	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs563325309	chr7:126988516-126988517	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs76856658	chr7:126988549-126988550	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs17869662	chr7:126988561-126988562	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs77884238	chr7:126988598-126988599	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs542999702	chr7:126988614-126988615	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs201597088	chr7:126988641-126988642	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs547264347	chr7:126988682-126988683	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs367660858	chr7:126988753-126988754	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs568670532	chr7:126988814-126988815	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs575818567	chr7:126988817-126988818	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs535798143	chr7:126988841-126988842	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs12056134	chr7:126988889-126988890	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs568976042	chr7:126988988-126988989	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs543430246	chr7:126989005-126989006	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs374892725	chr7:126989006-126989007	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs528495221	chr7:126989042-126989043	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD

Chromatin state (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126984400-126987600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:126984400-127000800	Weak transcription	HSMMtube	muscle
3	chr7:126984600-126987600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr7:126984800-126987600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:126984800-126987600	Weak transcription	K562	blood
6	chr7:126985600-126987600	Weak transcription	Thymus	Thymus
7	chr7:126985800-126987600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:126986000-126987600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:126986200-126987600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:126986400-126988000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:126986600-126987600	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr7:126986600-126987600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr7:126986800-126987600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:126986800-126987600	Enhancers	Adipose Nuclei	Adipose
15	chr7:126986800-126987600	Enhancers	Aorta	Aorta
16	chr7:126986800-126987600	Enhancers	Colonic Mucosa	Colon
17	chr7:126987000-126987600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:126987000-126987600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr7:126987000-126987600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr7:126987000-126987600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:126987000-126987600	Enhancers	Esophagus	oesophagus
22	chr7:126987000-126987600	Enhancers	Lung	lung
23	chr7:126987000-126987600	Enhancers	Pancreas	Pancrea
24	chr7:126987000-126987600	Strong transcription	HSMM	muscle
25	chr7:126987000-126988200	Enhancers	Gastric	stomach
26	chr7:126987000-126988400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr7:126987000-126988400	Enhancers	Placenta	Placenta
28	chr7:126987000-126988600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr7:126987200-126987600	Enhancers	Primary B cells from peripheral blood	blood
30	chr7:126987200-126988800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:126987200-126995400	Weak transcription	Dnd41	blood
32	chr7:126987400-126987600	Enhancers	Primary T cells from cord blood	blood
33	chr7:126987400-126987600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr7:126987400-126987600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr7:126987400-126987600	Enhancers	Ovary	ovary
36	chr7:126987400-126987600	Enhancers	Right Ventricle	heart
37	chr7:126987400-126987600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr7:126987400-126987600	Enhancers	HMEC	breast
39	chr7:126987600-126987800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
40	chr7:126987600-126987800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
41	chr7:126987600-126987800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:126987600-126987800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:126987600-126987800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:126987600-126987800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:126987600-126987800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:126987600-126987800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
47	chr7:126987600-126987800	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr7:126987600-126987800	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr7:126987600-126987800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
50	chr7:126987600-126987800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links