Variant report

Variant	rs316628
Chromosome Location	chr1:84713610-84713611
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84708889..84710683-chr1:84712706..84714926,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226970	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11163930	0.85[EUR][1000 genomes]
rs1402695	0.85[EUR][1000 genomes]
rs1402696	0.94[EUR][1000 genomes]
rs1402697	0.86[EUR][1000 genomes]
rs1494312	0.93[EUR][1000 genomes]
rs1521520	0.88[EUR][1000 genomes]
rs316630	0.86[EUR][1000 genomes]
rs4906988	0.89[EUR][1000 genomes]
rs4907047	0.94[EUR][1000 genomes]
rs4907049	0.89[EUR][1000 genomes]
rs4907051	0.87[EUR][1000 genomes]
rs588518	0.82[EUR][1000 genomes]
rs589918	0.82[EUR][1000 genomes]
rs600902	0.89[EUR][1000 genomes]
rs611467	0.98[ASN][1000 genomes]
rs612848	0.89[EUR][1000 genomes]
rs615726	0.87[EUR][1000 genomes]
rs655977	0.95[EUR][1000 genomes]
rs657321	0.86[EUR][1000 genomes]
rs6703471	0.92[EUR][1000 genomes]
rs674494	0.95[EUR][1000 genomes]
rs787858	0.90[CEU][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871538	chr1:84633116-84717983	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv830414	chr1:84636738-84824651	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1816427	chr1:84670816-84715634	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv1823244	chr1:84670816-84715634	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	esv1824568	chr1:84670816-84715634	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	esv1822734	chr1:84678418-84715634	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	esv1845114	chr1:84678418-84715634	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	esv1851921	chr1:84678418-84715634	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	esv1824421	chr1:84704329-84719245	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv830426	chr1:84704924-84856229	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	esv2527540	chr1:84710029-84716624	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv3319327	chr1:84710064-84717462	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv3500348	chr1:84710764-84717162	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv1810416	chr1:84710840-84715634	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv1812140	chr1:84710840-84715634	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv1844994	chr1:84710840-84715634	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv1847249	chr1:84710840-84715634	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv1813109	chr1:84710840-84717983	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv1843502	chr1:84710840-84717983	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv436488	chr1:84711229-84715993	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv3500353	chr1:84711314-84717012	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv3319331	chr1:84711389-84716737	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	esv2607567	chr1:84711412-84716583	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	esv20356	chr1:84711621-84715809	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	esv5501	chr1:84711762-84716093	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	nsv546691	chr1:84711771-84715634	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	esv2121386	chr1:84711822-84716042	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	esv3319329	chr1:84711884-84715955	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	esv3500351	chr1:84711916-84715949	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	esv3500349	chr1:84711919-84715912	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	esv3319328	chr1:84711925-84715952	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
32	esv3319332	chr1:84711926-84715941	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
33	esv3319326	chr1:84711941-84715895	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
34	esv3500354	chr1:84711947-84715912	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
35	esv3500350	chr1:84711947-84715913	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
36	esv3878	chr1:84711970-84715944	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
37	esv3319333	chr1:84712006-84715875	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
38	nsv823365	chr1:84712131-84715746	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
39	nsv823376	chr1:84712131-84715890	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
40	nsv819402	chr1:84712154-84715920	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
41	esv1805345	chr1:84712417-84715932	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
42	esv1809999	chr1:84712417-84715932	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
43	esv1820392	chr1:84712417-84715932	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
44	esv1820661	chr1:84712417-84715932	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
45	esv1847055	chr1:84712417-84715932	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
46	esv1851435	chr1:84712417-84715932	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
47	nsv546692	chr1:84713610-84714775	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
48	nsv546693	chr1:84713610-84715442	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
49	esv1804246	chr1:84713610-84715634	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
50	esv1804532	chr1:84713610-84715634	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84690000-84719400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:84701200-84717400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:84701200-84718400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:84701200-84719600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:84701400-84719800	Weak transcription	Fetal Heart	heart
6	chr1:84701400-84719800	Weak transcription	HSMM	muscle
7	chr1:84705800-84723000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:84711000-84713800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:84711800-84713800	Flanking Active TSS	HUVEC	blood vessel
10	chr1:84712400-84713800	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:84713000-84713800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:84713000-84714000	Flanking Active TSS	A549	lung
13	chr1:84713200-84713800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr1:84713200-84713800	Enhancers	HMEC	breast
15	chr1:84713200-84713800	Flanking Active TSS	NH-A	brain
16	chr1:84713400-84713800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:84713400-84713800	Active TSS	Hela-S3	cervix
18	chr1:84713400-84713800	Flanking Active TSS	Osteobl	bone
19	chr1:84713400-84718800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:84713600-84714000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr1:84713600-84718400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:84713600-84718400	Weak transcription	Colonic Mucosa	Colon
23	chr1:84713600-84718800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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