Variant report

Variant	rs7252277
Chromosome Location	chr19:21216153-21216154
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21215243..21217384-chr19:21265595..21267237,2	K562	blood:

Variant related genes	Relation type
ENSG00000160352	Chromatin interaction

Extended variants
information (count: 164 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:155)

rs_ID	r²[population]
rs10164375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10401931	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10405180	0.82[ASN][1000 genomes]
rs10405218	0.82[ASN][1000 genomes]
rs10406661	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10408496	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs10409844	0.88[ASN][1000 genomes]
rs10409877	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10410901	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10411038	0.82[ASN][1000 genomes]
rs10412267	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10412509	0.81[CHD][hapmap];0.94[JPT][hapmap]
rs10412688	0.98[ASN][1000 genomes]
rs10413175	0.85[ASN][1000 genomes]
rs10413692	0.98[ASN][1000 genomes]
rs10413983	0.85[ASN][1000 genomes]
rs10414134	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10417165	1.00[ASN][1000 genomes]
rs10418706	0.92[ASN][1000 genomes]
rs10421392	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10421819	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10422193	0.95[ASN][1000 genomes]
rs10423541	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10424283	0.85[ASN][1000 genomes]
rs10425969	0.88[ASN][1000 genomes]
rs10854042	1.00[CEU][hapmap]
rs11085424	1.00[ASN][1000 genomes]
rs11085431	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11666640	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11668795	0.81[ASN][1000 genomes]
rs11670162	0.85[ASN][1000 genomes]
rs11671894	0.97[ASN][1000 genomes]
rs11672142	0.88[ASN][1000 genomes]
rs11672727	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11672747	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11878599	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12104220	0.85[ASN][1000 genomes]
rs12104387	0.94[ASN][1000 genomes]
rs12608706	0.82[ASN][1000 genomes]
rs12608931	0.87[ASN][1000 genomes]
rs12609005	0.88[ASN][1000 genomes]
rs12609167	0.86[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs12609510	0.97[ASN][1000 genomes]
rs12609831	1.00[ASN][1000 genomes]
rs12611115	0.98[ASN][1000 genomes]
rs12973640	0.85[ASN][1000 genomes]
rs12973921	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12974016	0.82[ASN][1000 genomes]
rs12975789	1.00[ASN][1000 genomes]
rs12976796	0.95[ASN][1000 genomes]
rs12981855	0.86[ASN][1000 genomes]
rs1470021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1470022	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1609441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1968523	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1971815	0.83[ASN][1000 genomes]
rs2013048	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2081050	0.98[ASN][1000 genomes]
rs2081052	0.90[ASN][1000 genomes]
rs2081054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2081055	0.87[ASN][1000 genomes]
rs2081056	0.87[ASN][1000 genomes]
rs2081057	0.94[ASN][1000 genomes]
rs2098681	0.98[ASN][1000 genomes]
rs2099648	0.92[ASN][1000 genomes]
rs2112803	0.87[ASN][1000 genomes]
rs2115493	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2115494	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2115495	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2115496	0.94[JPT][hapmap]
rs2164988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2164989	0.88[ASN][1000 genomes]
rs2195453	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2195454	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2358792	0.98[ASN][1000 genomes]
rs2358795	1.00[ASN][1000 genomes]
rs2358804	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs250003	1.00[CEU][hapmap]
rs2884548	0.94[ASN][1000 genomes]
rs2884554	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35137761	0.82[ASN][1000 genomes]
rs388229	1.00[CEU][hapmap]
rs4255903	0.94[ASN][1000 genomes]
rs4292035	0.97[ASN][1000 genomes]
rs4365405	0.98[ASN][1000 genomes]
rs4488591	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4808273	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4808275	0.82[ASN][1000 genomes]
rs4809119	0.85[ASN][1000 genomes]
rs4809122	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs62122564	0.87[ASN][1000 genomes]
rs62122565	0.87[ASN][1000 genomes]
rs6511175	0.84[ASN][1000 genomes]
rs6511179	0.86[ASN][1000 genomes]
rs6511181	0.98[ASN][1000 genomes]
rs6511183	0.88[ASN][1000 genomes]
rs6511184	0.88[ASN][1000 genomes]
rs6511186	0.85[ASN][1000 genomes]
rs6511188	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6511191	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6511192	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6511194	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs6511195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6511196	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6511198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6511200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6511206	1.00[CEU][hapmap]
rs7246723	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7247413	1.00[ASN][1000 genomes]
rs7247553	0.92[ASN][1000 genomes]
rs7248087	0.98[ASN][1000 genomes]
rs7248410	0.82[ASN][1000 genomes]
rs7249283	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7249736	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7250169	0.85[ASN][1000 genomes]
rs7250987	1.00[CEU][hapmap]
rs7251158	1.00[CEU][hapmap]
rs7251646	1.00[CEU][hapmap]
rs7253530	1.00[ASN][1000 genomes]
rs7254047	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7254053	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7254722	0.97[ASN][1000 genomes]
rs7254768	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7254982	0.83[ASN][1000 genomes]
rs7256576	1.00[CEU][hapmap]
rs7257481	0.85[ASN][1000 genomes]
rs7258195	0.85[ASN][1000 genomes]
rs7258409	0.85[ASN][1000 genomes]
rs7258477	0.94[ASN][1000 genomes]
rs7258831	0.91[ASN][1000 genomes]
rs7259653	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7260268	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7260600	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs8100599	0.85[ASN][1000 genomes]
rs8101222	0.82[ASN][1000 genomes]
rs8101412	0.85[ASN][1000 genomes]
rs8101461	0.82[ASN][1000 genomes]
rs8102966	0.94[ASN][1000 genomes]
rs8103696	1.00[ASN][1000 genomes]
rs8103825	0.82[ASN][1000 genomes]
rs8106801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8106923	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8107638	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs8107982	0.88[ASN][1000 genomes]
rs8111827	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs8112054	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs8112216	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs8112500	0.82[ASN][1000 genomes]
rs8113541	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8182465	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9304980	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9304981	0.93[JPT][hapmap]
rs9304982	0.85[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9941463	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9967619	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv911411	chr19:21184533-21263518	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv578949	chr19:21190572-21244049	ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21204200-21224400	Weak transcription	Liver	Liver
2	chr19:21204200-21230400	Weak transcription	Gastric	stomach
3	chr19:21204400-21224000	Weak transcription	Aorta	Aorta
4	chr19:21204400-21224400	Weak transcription	Pancreas	Pancrea
5	chr19:21204400-21227200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:21204400-21229200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr19:21204400-21231600	Weak transcription	Colonic Mucosa	Colon
8	chr19:21204400-21264800	Weak transcription	Right Ventricle	heart
9	chr19:21204600-21227800	Weak transcription	Brain Angular Gyrus	brain
10	chr19:21204600-21239800	Weak transcription	Colon Smooth Muscle	Colon
11	chr19:21205400-21222800	Weak transcription	Fetal Brain Male	brain
12	chr19:21205600-21219200	Weak transcription	Small Intestine	intestine
13	chr19:21205800-21216800	Weak transcription	HepG2	liver
14	chr19:21206200-21217000	Weak transcription	Fetal Lung	lung
15	chr19:21206200-21218000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr19:21206200-21218000	Weak transcription	NHLF	lung
17	chr19:21206200-21223000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:21206200-21223600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr19:21206200-21226600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:21206200-21241600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr19:21206400-21220200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:21207200-21216800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr19:21207200-21219200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr19:21207200-21222800	Weak transcription	Fetal Kidney	kidney
25	chr19:21207200-21239400	Weak transcription	Hela-S3	cervix
26	chr19:21207400-21224200	Weak transcription	Spleen	Spleen
27	chr19:21207400-21226600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr19:21208400-21216200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr19:21208400-21216800	Weak transcription	NHDF-Ad	bronchial
30	chr19:21208600-21221200	Weak transcription	Fetal Intestine Small	intestine
31	chr19:21208600-21223000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:21208600-21230000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr19:21209200-21235600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr19:21209400-21217000	Weak transcription	Fetal Stomach	stomach
35	chr19:21209400-21221400	Weak transcription	Fetal Brain Female	brain
36	chr19:21210200-21216200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr19:21210200-21216800	Weak transcription	Placenta	Placenta
38	chr19:21210200-21232200	Weak transcription	K562	blood
39	chr19:21211000-21217600	Weak transcription	Brain Germinal Matrix	brain
40	chr19:21211200-21216600	Weak transcription	HMEC	breast
41	chr19:21211200-21216800	Weak transcription	Brain Anterior Caudate	brain
42	chr19:21211200-21216800	Weak transcription	NH-A	brain
43	chr19:21211200-21220000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:21211400-21216800	Weak transcription	HSMMtube	muscle
45	chr19:21211400-21217200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr19:21211400-21218400	Weak transcription	Stomach Mucosa	stomach
47	chr19:21211400-21219400	Strong transcription	Primary B cells from peripheral blood	blood
48	chr19:21211400-21221800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr19:21211400-21222800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr19:21211400-21235400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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