Variant report

Variant	rs7801190
Chromosome Location	chr7:100458093-100458094
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100450060..100453457-chr7:100456779..100461941,7	MCF-7	breast:
2	chr7:100448612..100451373-chr7:100457396..100459154,2	K562	blood:
3	chr7:100303486..100305045-chr7:100457950..100459885,2	K562	blood:
4	chr7:100453341..100456314-chr7:100457072..100459348,4	K562	blood:

Variant related genes	Relation type
ENSG00000236305	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000172336	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10247855	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10261229	1.00[ASN][1000 genomes]
rs11171	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17228616	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1799805	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2904852	1.00[ASN][1000 genomes]
rs34840477	1.00[ASN][1000 genomes]
rs4236546	1.00[ASN][1000 genomes]
rs4236547	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4364565	1.00[ASN][1000 genomes]
rs4448204	1.00[ASN][1000 genomes]
rs4574778	1.00[ASN][1000 genomes]
rs55833792	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56696877	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56966144	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57322794	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57753967	0.91[AFR][1000 genomes]
rs58194245	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61357484	0.88[AFR][1000 genomes]
rs6465778	1.00[ASN][1000 genomes]
rs6959542	1.00[ASN][1000 genomes]
rs71557210	1.00[ASN][1000 genomes]
rs73714203	0.96[AFR][1000 genomes]
rs73714210	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7636	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7787389	1.00[ASN][1000 genomes]
rs7808329	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811415	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv888797	chr7:100386900-100482026	Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
10	nsv888798	chr7:100406144-100472826	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
11	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS 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 miRNA target site	89 gene(s)	inside rSNPs	diseases
12	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
13	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
14	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
15	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Hypertension	21347282	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100451000-100458200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:100451000-100461200	Weak transcription	Stomach Mucosa	stomach
3	chr7:100451000-100463200	Weak transcription	HSMMtube	muscle
4	chr7:100451000-100464200	Weak transcription	Left Ventricle	heart
5	chr7:100451000-100464200	Weak transcription	Small Intestine	intestine
6	chr7:100451000-100464400	Weak transcription	Fetal Kidney	kidney
7	chr7:100451200-100458200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:100451200-100458200	Weak transcription	HUVEC	blood vessel
9	chr7:100451200-100460200	Weak transcription	HepG2	liver
10	chr7:100451200-100460400	Weak transcription	Liver	Liver
11	chr7:100451200-100460800	Weak transcription	NH-A	brain
12	chr7:100451200-100461200	Weak transcription	HSMM	muscle
13	chr7:100451200-100463200	Weak transcription	A549	lung
14	chr7:100451200-100463200	Weak transcription	Hela-S3	cervix
15	chr7:100451200-100463200	Weak transcription	NHDF-Ad	bronchial
16	chr7:100451200-100463800	Weak transcription	Right Atrium	heart
17	chr7:100451200-100464200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:100451400-100464200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:100451600-100461200	Strong transcription	Fetal Intestine Small	intestine
20	chr7:100451800-100462800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:100451800-100464200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:100452000-100463400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:100452000-100463600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:100452200-100461600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:100452200-100463000	Strong transcription	Lung	lung
26	chr7:100452200-100463400	Strong transcription	Fetal Stomach	stomach
27	chr7:100452200-100463600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr7:100452400-100461800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:100452400-100462400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr7:100452400-100463200	Weak transcription	Fetal Brain Male	brain
31	chr7:100452400-100464000	Weak transcription	GM12878-XiMat	blood
32	chr7:100452800-100460000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr7:100452800-100463400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr7:100453000-100458600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:100453000-100461000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:100453000-100463200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr7:100453200-100460400	Strong transcription	Fetal Muscle Leg	muscle
38	chr7:100453200-100461600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr7:100453200-100461800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:100453200-100463600	Strong transcription	Thymus	Thymus
41	chr7:100453200-100464200	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr7:100453400-100463000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr7:100453400-100463000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr7:100454400-100460600	Strong transcription	Fetal Brain Female	brain
45	chr7:100454400-100463400	Strong transcription	Primary T cells from cord blood	blood
46	chr7:100454600-100459200	Strong transcription	Brain Substantia Nigra	brain
47	chr7:100454600-100459600	Strong transcription	Adipose Nuclei	Adipose
48	chr7:100454800-100458800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:100454800-100459400	Strong transcription	Pancreas	Pancrea
50	chr7:100454800-100464200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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