Variant report

Variant	rs6994271
Chromosome Location	chr8:120156813-120156814
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 158 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs13248274	0.97[ASN][1000 genomes]
rs13248569	0.97[ASN][1000 genomes]
rs13257113	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13262749	0.98[ASN][1000 genomes]
rs1351954	0.85[ASN][1000 genomes]
rs1385492	0.86[ASN][1000 genomes]
rs1961996	0.92[ASN][1000 genomes]
rs2113885	0.91[ASN][1000 genomes]
rs2242313	0.88[ASN][1000 genomes]
rs2432965	0.92[ASN][1000 genomes]
rs2450061	0.86[ASN][1000 genomes]
rs2450072	0.85[ASN][1000 genomes]
rs2450076	0.92[ASN][1000 genomes]
rs2450080	0.84[ASN][1000 genomes]
rs2465385	0.92[ASN][1000 genomes]
rs2465387	0.92[ASN][1000 genomes]
rs2465390	0.90[ASN][1000 genomes]
rs2465393	0.88[ASN][1000 genomes]
rs2465394	0.89[ASN][1000 genomes]
rs6469811	0.92[ASN][1000 genomes]
rs7388447	0.92[ASN][1000 genomes]
rs7813952	0.92[ASN][1000 genomes]
rs7827224	0.92[ASN][1000 genomes]
rs996789	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv1804892	chr8:120120429-120161140	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1810588	chr8:120120429-120168446	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1808446	chr8:120120901-120168446	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv1812136	chr8:120127586-120161140	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv1810758	chr8:120135125-120161140	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1814238	chr8:120135125-120161140	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv612062	chr8:120135125-120161140	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1812961	chr8:120144574-120161140	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3343714	chr8:120147320-120161897	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv1807926	chr8:120147980-120161140	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv1834346	chr8:120147980-120161140	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv1836912	chr8:120147980-120161140	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv1837966	chr8:120147980-120161140	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv8385	chr8:120149070-120161289	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv1822130	chr8:120149346-120160486	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv1822696	chr8:120149346-120160486	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv1845207	chr8:120149346-120160486	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv6363	chr8:120150231-120188957	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv3481079	chr8:120152571-120157869	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	esv3481080	chr8:120152571-120157869	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv820194	chr8:120152630-120161086	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	esv20061	chr8:120153083-120161219	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	nsv820447	chr8:120153083-120161219	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	nsv824725	chr8:120153083-120161219	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	esv3513660	chr8:120153421-120162319	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	esv3513662	chr8:120153821-120162244	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	esv2589587	chr8:120154028-120161884	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	nsv612063	chr8:120154125-120161140	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
32	nsv436588	chr8:120154347-120161381	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
33	esv3513667	chr8:120154349-120161506	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
34	esv2297984	chr8:120154357-120161410	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
35	esv989618	chr8:120154403-120162265	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
36	esv3479933	chr8:120154410-120161322	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
37	esv3513669	chr8:120154436-120161325	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
38	esv3513665	chr8:120154442-120161320	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
39	esv3513668	chr8:120154443-120161325	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
40	esv3479929	chr8:120154466-120161288	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
41	esv3479931	chr8:120154471-120162969	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
42	esv3479932	chr8:120154474-120161271	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
43	esv3479934	chr8:120154479-120161264	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
44	esv3513661	chr8:120154481-120161271	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
45	esv3513666	chr8:120154484-120161265	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
46	esv3479935	chr8:120154529-120161220	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
47	esv3513664	chr8:120154539-120161220	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
48	nsv499409	chr8:120154542-120161218	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
49	nsv395817	chr8:120154543-120161215	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
50	esv3479936	chr8:120154543-120161218	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120150200-120161200	Weak transcription	Stomach Mucosa	stomach
2	chr8:120155600-120157200	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr8:120155600-120158200	Enhancers	Fetal Intestine Large	intestine
4	chr8:120155800-120158000	Enhancers	NHEK	skin
5	chr8:120156000-120157000	Enhancers	Duodenum Mucosa	Duodenum
6	chr8:120156000-120157600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:120156400-120165000	Weak transcription	Fetal Lung	lung
8	chr8:120156600-120157000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:120156600-120157200	Weak transcription	Fetal Intestine Small	intestine
10	chr8:120156800-120157800	Enhancers	Rectal Mucosa Donor 31	rectum

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