Variant report

Variant	rs7251912
Chromosome Location	chr19:36521820-36521821
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36520862..36521941-chr19:36541768..36542831,9	MCF-7	breast:
2	chr19:36511163..36512753-chr19:36521664..36523189,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1009381	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10406862	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10419924	0.82[EUR][1000 genomes]
rs10420345	0.86[ASN][1000 genomes]
rs10421377	0.92[ASN][1000 genomes]
rs10422055	1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs10425700	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10427033	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11538454	0.88[ASN][1000 genomes]
rs11666192	0.81[ASN][1000 genomes]
rs11669890	0.92[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs12462159	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs12608517	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12981698	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2023866	0.87[ASN][1000 genomes]
rs2074435	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2075472	0.93[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs2227260	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2231568	0.92[CHB][hapmap];0.94[JPT][hapmap]
rs2301734	1.00[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs2301737	1.00[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs2871649	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4555271	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4806249	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4806254	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4806262	0.86[ASN][1000 genomes]
rs4806271	0.82[EUR][1000 genomes]
rs4806273	0.82[ASN][1000 genomes]
rs4806276	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55849299	0.90[ASN][1000 genomes]
rs7250364	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7257026	0.90[ASN][1000 genomes]
rs7258807	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73036134	0.80[ASN][1000 genomes]
rs8112640	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv911641	chr19:36473677-36536938	Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv833815	chr19:36519803-36624936	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36505800-36522000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:36505800-36522200	Weak transcription	Fetal Kidney	kidney
3	chr19:36505800-36522800	Weak transcription	Small Intestine	intestine
4	chr19:36506000-36522400	Weak transcription	NH-A	brain
5	chr19:36506000-36522800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr19:36506000-36523000	Weak transcription	HSMM	muscle
7	chr19:36506000-36523200	Weak transcription	Left Ventricle	heart
8	chr19:36506000-36523600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr19:36506200-36522400	Strong transcription	Fetal Stomach	stomach
10	chr19:36506200-36522800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr19:36506200-36523000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:36506200-36523200	Weak transcription	HUVEC	blood vessel
13	chr19:36506200-36523400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr19:36506200-36523400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr19:36506400-36523000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr19:36506400-36544400	Weak transcription	GM12878-XiMat	blood
17	chr19:36506800-36532400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:36507000-36532200	Weak transcription	Hela-S3	cervix
19	chr19:36508800-36532400	Weak transcription	NHEK	skin
20	chr19:36513400-36523600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr19:36513600-36523000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr19:36513600-36525600	Weak transcription	K562	blood
23	chr19:36514400-36522400	Weak transcription	Liver	Liver
24	chr19:36514400-36523200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr19:36515000-36522800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr19:36515000-36523200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr19:36515200-36522800	Weak transcription	NHDF-Ad	bronchial
28	chr19:36515200-36523000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr19:36515200-36527600	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr19:36515400-36523000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:36515400-36523200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr19:36515400-36523200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr19:36515400-36523600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr19:36515400-36544600	Weak transcription	Pancreas	Pancrea
35	chr19:36515600-36523200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr19:36515600-36523400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr19:36515800-36523200	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr19:36515800-36523400	Weak transcription	Primary B cells from cord blood	blood
39	chr19:36516200-36523600	Weak transcription	Gastric	stomach
40	chr19:36516400-36522800	Weak transcription	Colon Smooth Muscle	Colon
41	chr19:36516400-36523200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr19:36516400-36532400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr19:36516800-36522800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr19:36517000-36522800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr19:36517000-36523000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr19:36517000-36526400	Weak transcription	HepG2	liver
47	chr19:36517200-36522800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr19:36518000-36522800	Weak transcription	Right Ventricle	heart
49	chr19:36518000-36523000	Weak transcription	Colonic Mucosa	Colon
50	chr19:36518200-36522800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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