Variant report

Variant	rs16926379
Chromosome Location	chr8:61595606-61595607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61594018..61597231-chr8:61607679..61611092,4	K562	blood:
2	chr8:61594133..61596295-chr8:61945003..61948640,3	K562	blood:
3	chr8:61595542..61601111-chr8:61606456..61610511,8	K562	blood:
4	chr8:61559343..61568621-chr8:61588061..61597189,35	MCF-7	breast:
5	chr8:61594274..61596445-chr8:61605915..61607443,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254869	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10098584	1.00[ASN][1000 genomes]
rs10101023	1.00[ASN][1000 genomes]
rs13256570	1.00[TSI][hapmap]
rs13261519	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13269361	1.00[MEX][hapmap];0.86[MKK][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13275837	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs13438807	1.00[ASN][1000 genomes]
rs16926398	1.00[CEU][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926440	1.00[ASN][1000 genomes]
rs16926444	1.00[ASN][1000 genomes]
rs16926456	1.00[ASN][1000 genomes]
rs16926528	1.00[ASN][1000 genomes]
rs28539174	1.00[ASN][1000 genomes]
rs28539276	1.00[ASN][1000 genomes]
rs28667506	1.00[ASN][1000 genomes]
rs34301717	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34833917	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35777815	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272442	1.00[ASN][1000 genomes]
rs62524942	1.00[ASN][1000 genomes]
rs62524943	1.00[ASN][1000 genomes]
rs62524944	1.00[ASN][1000 genomes]
rs62524946	1.00[ASN][1000 genomes]
rs62524950	1.00[ASN][1000 genomes]
rs62524951	1.00[ASN][1000 genomes]
rs62524954	1.00[ASN][1000 genomes]
rs62524956	1.00[ASN][1000 genomes]
rs62524957	1.00[ASN][1000 genomes]
rs62526484	1.00[ASN][1000 genomes]
rs62526485	1.00[ASN][1000 genomes]
rs62526486	1.00[ASN][1000 genomes]
rs62526528	1.00[ASN][1000 genomes]
rs6471895	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986750	1.00[CEU][hapmap]
rs6988200	1.00[CEU][hapmap]
rs7013969	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs730084	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv824657	chr8:61555227-61626758	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv824658	chr8:61561488-61612108	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv1027929	chr8:61569620-61617812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1017564	chr8:61577791-61617812	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
9	nsv824659	chr8:61586207-61596149	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
10	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
11	esv2462449	chr8:61595271-61596722	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61593200-61596200	Weak transcription	Gastric	stomach
2	chr8:61593200-61596800	Weak transcription	Spleen	Spleen
3	chr8:61593400-61596200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:61593400-61596200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:61593400-61596200	Weak transcription	Esophagus	oesophagus
6	chr8:61593400-61596200	Weak transcription	Left Ventricle	heart
7	chr8:61593400-61596200	Weak transcription	Pancreas	Pancrea
8	chr8:61593400-61596200	Weak transcription	Small Intestine	intestine
9	chr8:61593400-61597000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:61593400-61597000	Weak transcription	Lung	lung
11	chr8:61593400-61607200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:61593800-61596400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr8:61594000-61596200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr8:61594000-61596200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:61594000-61596200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr8:61594000-61596200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:61594000-61596200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:61594000-61596200	Weak transcription	Psoas Muscle	Psoas
19	chr8:61594000-61596200	Weak transcription	Right Atrium	heart
20	chr8:61594000-61596200	Weak transcription	Right Ventricle	heart
21	chr8:61594000-61596200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:61594000-61596200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:61594000-61596600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr8:61594000-61596800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr8:61594000-61596800	Enhancers	Primary B cells from peripheral blood	blood
26	chr8:61594000-61596800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:61594000-61596800	Weak transcription	Brain Substantia Nigra	brain
28	chr8:61594000-61596800	Weak transcription	Fetal Brain Male	brain
29	chr8:61594000-61597000	Weak transcription	Adipose Nuclei	Adipose
30	chr8:61594000-61597000	Weak transcription	Fetal Muscle Leg	muscle
31	chr8:61594000-61597600	Weak transcription	K562	blood
32	chr8:61594000-61598000	Enhancers	Fetal Heart	heart
33	chr8:61594000-61599200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr8:61594000-61610400	Weak transcription	A549	lung
35	chr8:61594200-61596000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:61594200-61596200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr8:61594200-61596200	Enhancers	Primary B cells from cord blood	blood
38	chr8:61594200-61596200	Weak transcription	Fetal Intestine Large	intestine
39	chr8:61594200-61596200	Weak transcription	HMEC	breast
40	chr8:61594200-61596800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr8:61594200-61598400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr8:61594200-61598800	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr8:61594200-61599000	Weak transcription	Colonic Mucosa	Colon
44	chr8:61594200-61602200	Weak transcription	Fetal Brain Female	brain
45	chr8:61594200-61604800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:61594200-61617600	Weak transcription	Hela-S3	cervix
47	chr8:61594400-61595800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr8:61594400-61595800	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr8:61594400-61596200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr8:61594400-61596200	Weak transcription	Brain Cingulate Gyrus	brain

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