Variant report

Variant	rs58194245
Chromosome Location	chr7:100460859-100460860
allele	G/T
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	chr7:100302295..100304999-chr7:100460489..100463924,4	MCF-7	breast:
3	chr7:100452503..100455139-chr7:100460474..100462515,2	K562	blood:

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

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10247855	1.00[ASN][1000 genomes]
rs10261229	1.00[ASN][1000 genomes]
rs11171	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162518	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17228616	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1799805	0.89[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[ASN][1000 genomes]
rs4364565	1.00[ASN][1000 genomes]
rs4448204	1.00[ASN][1000 genomes]
rs4574778	1.00[ASN][1000 genomes]
rs55833792	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56696877	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56966144	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57322794	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57753967	0.92[AFR][1000 genomes]
rs61357484	0.87[AFR][1000 genomes]
rs6465778	1.00[ASN][1000 genomes]
rs6959542	1.00[ASN][1000 genomes]
rs71557210	1.00[ASN][1000 genomes]
rs73714203	0.95[AFR][1000 genomes]
rs73714210	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7636	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7787389	1.00[ASN][1000 genomes]
rs7801190	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808329	0.80[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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100451000-100461200	Weak transcription	Stomach Mucosa	stomach
2	chr7:100451000-100463200	Weak transcription	HSMMtube	muscle
3	chr7:100451000-100464200	Weak transcription	Left Ventricle	heart
4	chr7:100451000-100464200	Weak transcription	Small Intestine	intestine
5	chr7:100451000-100464400	Weak transcription	Fetal Kidney	kidney
6	chr7:100451200-100461200	Weak transcription	HSMM	muscle
7	chr7:100451200-100463200	Weak transcription	A549	lung
8	chr7:100451200-100463200	Weak transcription	Hela-S3	cervix
9	chr7:100451200-100463200	Weak transcription	NHDF-Ad	bronchial
10	chr7:100451200-100463800	Weak transcription	Right Atrium	heart
11	chr7:100451200-100464200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:100451400-100464200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:100451600-100461200	Strong transcription	Fetal Intestine Small	intestine
14	chr7:100451800-100462800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:100451800-100464200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:100452000-100463400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:100452000-100463600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr7:100452200-100461600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:100452200-100463000	Strong transcription	Lung	lung
20	chr7:100452200-100463400	Strong transcription	Fetal Stomach	stomach
21	chr7:100452200-100463600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:100452400-100461800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:100452400-100462400	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr7:100452400-100463200	Weak transcription	Fetal Brain Male	brain
25	chr7:100452400-100464000	Weak transcription	GM12878-XiMat	blood
26	chr7:100452800-100463400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr7:100453000-100461000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:100453000-100463200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr7:100453200-100461600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:100453200-100461800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:100453200-100463600	Strong transcription	Thymus	Thymus
32	chr7:100453200-100464200	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr7:100453400-100463000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr7:100453400-100463000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr7:100454400-100463400	Strong transcription	Primary T cells from cord blood	blood
36	chr7:100454800-100464200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:100455000-100463400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr7:100456200-100461600	Strong transcription	Esophagus	oesophagus
39	chr7:100456200-100463200	Strong transcription	Stomach Smooth Muscle	stomach
40	chr7:100456200-100463400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
41	chr7:100456400-100461800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:100456400-100462000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:100456400-100462600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:100456400-100463400	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr7:100456400-100464200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:100456600-100463000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr7:100456600-100463200	Strong transcription	Primary B cells from cord blood	blood
48	chr7:100456800-100461400	Strong transcription	Placenta	Placenta
49	chr7:100457400-100461600	Strong transcription	Fetal Thymus	thymus
50	chr7:100457600-100461400	Strong transcription	H1 Cell Line	embryonic stem cell

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