Variant report

Variant	nsv911290
Chromosome Location	chr19:18701499-18720981
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1204)
CpG islands
(count:1891)
Chromatin interactive
region (count:58)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1204 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr19:18701229-18701639	K562	blood:	n/a	n/a
2	ATF2	chr19:18704372-18704788	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr19:18701105-18701868	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr19:18701162-18701830	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr19:18705061-18705410	K562	blood:	n/a	chr19:18705318-18705327
6	BACH1	chr19:18704554-18704635	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr19:18705142-18705435	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr19:18707801-18708001	K562	blood:	n/a	n/a
9	BACH1	chr19:18716303-18716492	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr19:18701425-18701760	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr19:18718171-18718685	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL3	chr19:18704178-18704579	A549	lung:	n/a	n/a
13	BCL3	chr19:18705003-18705463	GM12878	blood:	n/a	chr19:18705319-18705328 chr19:18705382-18705395
14	BCL3	chr19:18701237-18701771	A549	lung:	n/a	n/a
15	BCLAF1	chr19:18705031-18705490	GM12878	blood:	n/a	chr19:18705319-18705328 chr19:18705382-18705395
16	BHLHE40	chr19:18719590-18719692	HepG2	liver:	n/a	n/a
17	BHLHE40	chr19:18705042-18705386	GM12878	blood:	n/a	n/a
18	BHLHE40	chr19:18701409-18701698	K562	blood:	n/a	n/a
19	BHLHE40	chr19:18719592-18719634	K562	blood:	n/a	n/a
20	BHLHE40	chr19:18705002-18705381	K562	blood:	n/a	n/a
21	BHLHE40	chr19:18707424-18708081	K562	blood:	n/a	n/a
22	BRCA1	chr19:18701899-18701900	H1-hESC	embryonic stem cell:	n/a	n/a
23	CBX3	chr19:18699130-18701896	K562	blood:	n/a	n/a
24	CBX3	chr19:18707440-18708069	K562	blood:	n/a	n/a
25	CBX3	chr19:18705011-18705363	K562	blood:	n/a	n/a
26	CCNT2	chr19:18707482-18707983	K562	blood:	n/a	n/a
27	CCNT2	chr19:18705040-18705486	K562	blood:	n/a	chr19:18705445-18705454
28	CEBPB	chr19:18712763-18712960	HepG2	liver:	n/a	n/a
29	CEBPB	chr19:18707611-18707849	K562	blood:	n/a	n/a
30	CEBPB	chr19:18707434-18707896	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr19:18705235-18705352	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr19:18720122-18720276	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPD	chr19:18716724-18717146	HepG2	liver:	n/a	n/a
34	CHD1	chr19:18700283-18701522	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr19:18701702-18701704	K562	blood:	n/a	n/a
36	CHD2	chr19:18705070-18705447	GM12878	blood:	n/a	n/a
37	CHD2	chr19:18707461-18707908	Hela-S3	cervix:	n/a	n/a
38	CHD2	chr19:18705109-18705538	Hela-S3	cervix:	n/a	chr19:18705444-18705454
39	CHD2	chr19:18704970-18705655	H1-hESC	embryonic stem cell:	n/a	chr19:18705444-18705454 chr19:18705529-18705539
40	CHD2	chr19:18705201-18705446	K562	blood:	n/a	n/a
41	CHD2	chr19:18700904-18701729	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr19:18704524-18704760	H1-hESC	embryonic stem cell:	n/a	n/a
43	CREB1	chr19:18701140-18701709	A549	lung:	n/a	n/a
44	CREB1	chr19:18701084-18701926	K562	blood:	n/a	n/a
45	CREB1	chr19:18704961-18705470	A549	lung:	n/a	n/a
46	CREB1	chr19:18701193-18701858	K562	blood:	n/a	n/a
47	CREB1	chr19:18699264-18701860	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr19:18701229-18701585	A549	lung:	n/a	n/a
49	CREB1	chr19:18701234-18701881	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTBP2	chr19:18705087-18705593	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1891 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18706136-18706186	PANC-1	pancreas:	n/a
2	chr19:18704214-18704264	GM12891	blood:	n/a
3	chr19:18706136-18706186	Jurkat	blood:	n/a
4	chr19:18703034-18703084	BE2_C	brain:	n/a
5	chr19:18709521-18709571	NT2-D1	testis:	n/a
6	chr19:18713816-18713866	T-47D	breast:	n/a
7	chr19:18716230-18716280	AG04449	skin:	fetal
8	chr19:18718675-18718725	AG09319	gingival:	n/a
9	chr19:18714552-18714602	HRCEpiC	kidney:	n/a
10	chr19:18714552-18714602	MCF10A-Er-Src	breast:	n/a
11	chr19:18705946-18705996	HL-60	blood:	n/a
12	chr19:18718202-18718252	HIPEpiC	eye:	n/a
13	chr19:18717742-18717792	HRE	kidney:	n/a
14	chr19:18716499-18716549	PrEC	prostate:	n/a
15	chr19:18705360-18705410	LNCaP	prostate:	n/a
16	chr19:18715471-18715521	NHBE	bronchial:	n/a
17	chr19:18707521-18707571	HPAEpiC	pulmonary alveolar:	n/a
18	chr19:18716439-18716489	AoSMC	blood vessel:	n/a
19	chr19:18703034-18703084	LNCaP	prostate:	n/a
20	chr19:18704214-18704264	LNCaP	prostate:	n/a
21	chr19:18705946-18705996	NT2-D1	testis:	n/a
22	chr19:18716230-18716280	SK-N-SH	brain:	n/a
23	chr19:18704214-18704264	HRCEpiC	kidney:	n/a
24	chr19:18717781-18717831	H1-hESC	embryonic stem cell:	embryo
25	chr19:18717036-18717086	HRPEpiC	eye:	n/a
26	chr19:18703034-18703084	HNPCEpiC	eye:	n/a
27	chr19:18716230-18716280	HCF	heart:	n/a
28	chr19:18718202-18718252	ProgFib	skin:	n/a
29	chr19:18715471-18715521	NB4	blood:	n/a
30	chr19:18704214-18704264	AG09309	skin:	n/a
31	chr19:18719623-18719673	GM06990	blood:	n/a
32	chr19:18709521-18709571	AG04449	skin:	fetal
33	chr19:18718675-18718725	Hepatocyte	liver:	n/a
34	chr19:18716230-18716280	HAEpiC	amniotic membrane:	n/a
35	chr19:18716527-18716577	HIPEpiC	eye:	n/a
36	chr19:18705946-18705996	MCF10A-Er-Src	breast:	n/a
37	chr19:18717036-18717086	HPAEpiC	pulmonary alveolar:	n/a
38	chr19:18717742-18717792	PrEC	prostate:	n/a
39	chr19:18705946-18705996	NHBE	bronchial:	n/a
40	chr19:18715471-18715521	RPTEC	kidney:	n/a
41	chr19:18717638-18717688	AG04450	lung:	fetal
42	chr19:18717080-18717130	GM06990	blood:	n/a
43	chr19:18709415-18709465	AG09309	skin:	n/a
44	chr19:18717781-18717831	HEK293	kidney:	embryo
45	chr19:18705946-18705996	CMK	blood:	n/a
46	chr19:18719623-18719673	Caco-2	colon:	n/a
47	chr19:18718742-18718792	HRCEpiC	kidney:	n/a
48	chr19:18717080-18717130	ECC-1	luminal epithelium:	n/a
49	chr19:18707521-18707571	HMEC	breast:	n/a
50	chr19:18717783-18717833	PANC-1	pancreas:	n/a

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:18630919..18637145-chr19:18698949..18704438,10	K562	blood:
2	chr19:18708977..18711146-chr19:18753386..18756149,2	K562	blood:
3	chr19:18631279..18634372-chr19:18705678..18709198,3	K562	blood:
4	chr19:18560048..18561814-chr19:18700604..18703327,3	K562	blood:
5	chr19:18716807..18719687-chr19:18745756..18748857,3	K562	blood:
6	chr19:18682701..18684628-chr19:18711947..18714208,2	K562	blood:
7	chr19:18707257..18708113-chr19:18717405..18718259,2	K562	blood:
8	chr19:18714258..18716711-chr19:18719461..18722423,3	K562	blood:
9	chr19:18653459..18656385-chr19:18699225..18703130,9	K562	blood:
10	chr19:18682401..18684687-chr19:18702171..18705609,4	MCF-7	breast:
11	chr19:18704422..18706630-chr19:18794126..18796450,2	K562	blood:
12	chr19:18700524..18703188-chr19:18747828..18749371,2	K562	blood:
13	chr19:18713204..18718867-chr19:18719015..18725496,7	MCF-7	breast:
14	chr19:18713933..18717054-chr19:18723624..18727026,3	K562	blood:
15	chr19:18631032..18633728-chr19:18697675..18701681,7	MCF-7	breast:
16	chr19:18700909..18703252-chr19:18712659..18714202,2	MCF-7	breast:
17	chr19:18717575..18719687-chr19:18746806..18748857,2	K562	blood:
18	chr19:18534817..18537045-chr19:18704121..18707068,2	MCF-7	breast:
19	chr19:18700084..18702080-chr19:18719094..18721979,3	K562	blood:
20	chr19:18704422..18706630-chr19:18794126..18797351,3	K562	blood:
21	chr19:18701373..18702091-chr19:18785954..18786766,2	K562	blood:
22	chr19:18709887..18711909-chr19:18716896..18719786,2	MCF-7	breast:
23	chr19:18705427..18706927-chr2:10498314..10500918,2	K562	blood:
24	chr19:18700263..18702427-chr19:18963644..18966228,2	K562	blood:
25	chr19:18495663..18499199-chr19:18698556..18701601,3	K562	blood:
26	chr19:18630810..18631679-chr19:18701058..18701904,2	K562	blood:
27	chr19:18593399..18595831-chr19:18710963..18713438,2	K562	blood:
28	chr19:18704569..18706809-chr19:18943109..18944717,2	K562	blood:
29	chr19:18631661..18633097-chr19:18704601..18705318,3	K562	blood:
30	chr19:18653476..18656385-chr19:18700159..18703130,5	K562	blood:
31	chr19:18703614..18706295-chr19:18717142..18718647,2	MCF-7	breast:
32	chr19:18653590..18656982-chr19:18704077..18706738,3	K562	blood:
33	chr19:18667076..18669031-chr19:18699935..18702117,2	K562	blood:
34	chr19:18629422..18634718-chr19:18699285..18702887,8	K562	blood:
35	chr19:18631688..18633803-chr19:18698894..18701519,3	MCF-7	breast:
36	chr19:18703614..18706295-chr19:18717142..18718647,2	MCF-7	breast:
37	chr19:18678376..18688390-chr19:18697032..18707656,34	K562	blood:
38	chr19:18715795..18719274-chr19:18719391..18724999,7	MCF-7	breast:
39	chr19:18546602..18548402-chr19:18715878..18718027,2	MCF-7	breast:
40	chr19:18703681..18707981-chr19:18746387..18750076,5	K562	blood:
41	chr19:18547378..18549702-chr19:18699788..18702900,3	K562	blood:
42	chr19:18715795..18719274-chr19:18719391..18724999,7	MCF-7	breast:
43	chr19:18714829..18718349-chr19:18723409..18727026,4	K562	blood:
44	chr19:18719600..18721808-chr19:18793150..18795640,2	MCF-7	breast:
45	chr19:18714258..18716711-chr19:18719461..18722423,3	K562	blood:
46	chr19:18720681..18723578-chr19:18792529..18794058,2	K562	blood:
47	chr1:9689986..9690486-chr19:18702286..18702787,2	NB4	blood:
48	chr19:18700909..18703252-chr19:18712659..18714202,2	MCF-7	breast:
49	chr19:18698708..18701515-chr19:18746316..18749182,4	MCF-7	breast:
50	chr19:18706092..18707788-chr19:18746587..18749190,2	K562	blood:

No data

Variant related genes	Relation type
TMEM59L	TF binding region
CRLF1	TF binding region
TMEM59L	CpG island
CRLF1	CpG island
ENSG00000105656	chromatin interactions
ENSG00000268983	chromatin interactions
ENSG00000105696	chromatin interactions
ENSG00000130513	chromatin interactions
ENSG00000105700	chromatin interactions
ENSG00000005007	chromatin interactions
ENSG00000105701	chromatin interactions
ENSG00000264175	chromatin interactions
ENSG00000006016	chromatin interactions
ENSG00000105662	chromatin interactions
ENSG00000167487	chromatin interactions
ENSG00000006015	chromatin interactions
ENSG00000221983	chromatin interactions
ENSG00000130511	chromatin interactions
ENSG00000105655	chromatin interactions

Extended variants
information (count: 770 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:770 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7258589	chr19:18701499-18701500	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115615971	chr19:18701511-18701512	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs113099145	chr19:18701526-18701527	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs546304604	chr19:18701538-18701539	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs141558344	chr19:18701578-18701579	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs550554936	chr19:18701581-18701582	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs150088014	chr19:18701611-18701612	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs371553843	chr19:18701621-18701622	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs373030760	chr19:18701675-18701676	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs377650212	chr19:18701679-18701680	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs34613961	chr19:18701700-18701701	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs35627056	chr19:18701712-18701713	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs569174444	chr19:18701800-18701801	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs537050174	chr19:18701884-18701885	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs557278755	chr19:18701895-18701896	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs138512709	chr19:18701899-18701900	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs112375973	chr19:18701917-18701918	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs371034573	chr19:18701942-18701943	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs573458336	chr19:18702004-18702005	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs116873325	chr19:18702026-18702027	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs375228714	chr19:18702038-18702039	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs555780597	chr19:18702072-18702073	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs114104031	chr19:18702129-18702130	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs544588322	chr19:18702140-18702141	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs563705318	chr19:18702159-18702160	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs577241775	chr19:18702217-18702218	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs539920285	chr19:18702234-18702235	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs559851543	chr19:18702240-18702241	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs529071224	chr19:18702252-18702253	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs549208979	chr19:18702271-18702272	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs184283032	chr19:18702343-18702344	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs577161869	chr19:18702356-18702357	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs189793908	chr19:18702369-18702370	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs192596365	chr19:18702383-18702384	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs374631479	chr19:18702425-18702426	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs10403184	chr19:18702457-18702458	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs537830104	chr19:18702476-18702477	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs184549433	chr19:18702486-18702487	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs886242	chr19:18702497-18702498	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs547105476	chr19:18702499-18702500	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs886243	chr19:18702501-18702502	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs535580877	chr19:18702513-18702514	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs2314662	chr19:18702515-18702516	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs117537939	chr19:18702527-18702528	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs538502639	chr19:18702537-18702538	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs111981602	chr19:18702552-18702553	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs149612702	chr19:18702558-18702559	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs113526289	chr19:18702559-18702560	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs148798810	chr19:18702628-18702629	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs542370241	chr19:18702630-18702631	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1397 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18698800-18701800	Active TSS	Fetal Brain Female	brain
2	chr19:18699000-18701600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:18699000-18701600	Active TSS	A549	lung
4	chr19:18699000-18701800	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr19:18699000-18701800	Active TSS	Fetal Kidney	kidney
6	chr19:18699200-18701600	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr19:18699200-18701600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr19:18699200-18701800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr19:18699200-18701800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr19:18699200-18702000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:18699400-18701600	Active TSS	H1 Cell Line	embryonic stem cell
12	chr19:18699400-18701600	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr19:18699400-18701800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:18699400-18701800	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr19:18699400-18701800	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr19:18700000-18701600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr19:18700400-18701800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr19:18700400-18705400	Weak transcription	Aorta	Aorta
19	chr19:18700400-18705400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr19:18700600-18701600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr19:18700600-18701600	Enhancers	Ovary	ovary
22	chr19:18700800-18701600	Enhancers	Primary B cells from peripheral blood	blood
23	chr19:18700800-18701600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr19:18700800-18701600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr19:18700800-18701600	Enhancers	Fetal Heart	heart
26	chr19:18700800-18701600	Weak transcription	Lung	lung
27	chr19:18700800-18701800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr19:18700800-18701800	Enhancers	Right Ventricle	heart
29	chr19:18700800-18704600	Weak transcription	Small Intestine	intestine
30	chr19:18700800-18705200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr19:18701000-18701600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:18701000-18701600	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr19:18701000-18701600	Enhancers	Primary hematopoietic stem cells	blood
34	chr19:18701000-18701600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:18701000-18701600	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr19:18701000-18701600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr19:18701000-18701600	Enhancers	Adipose Nuclei	Adipose
38	chr19:18701000-18701600	Active TSS	Brain Cingulate Gyrus	brain
39	chr19:18701000-18701600	Weak transcription	Colonic Mucosa	Colon
40	chr19:18701000-18701600	Weak transcription	Esophagus	oesophagus
41	chr19:18701000-18701600	Enhancers	GM12878-XiMat	blood
42	chr19:18701000-18701600	Enhancers	NHDF-Ad	bronchial
43	chr19:18701000-18701800	Enhancers	Primary B cells from cord blood	blood
44	chr19:18701000-18701800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr19:18701000-18702200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
46	chr19:18701000-18702400	Strong transcription	NHLF	lung
47	chr19:18701000-18702600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr19:18701000-18704400	Weak transcription	Stomach Mucosa	stomach
49	chr19:18701000-18704400	Weak transcription	Osteobl	bone
50	chr19:18701000-18705000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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