Variant report

Variant	rs6993615
Chromosome Location	chr8:43005246-43005247
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:42995805..42997640-chr8:43004666..43006310,2	K562	blood:
2	chr8:42994352..42997640-chr8:43004666..43006525,3	K562	blood:

Variant related genes	Relation type
ENSG00000165102	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10086958	0.82[ASN][1000 genomes]
rs10095511	0.80[ASN][1000 genomes]
rs10109426	0.82[ASN][1000 genomes]
rs10435641	0.85[ASN][1000 genomes]
rs10448065	0.82[ASN][1000 genomes]
rs10808963	0.85[ASN][1000 genomes]
rs10958737	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10958738	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10958739	0.85[ASN][1000 genomes]
rs10958740	0.82[ASN][1000 genomes]
rs1129987	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11774010	0.82[ASN][1000 genomes]
rs11781737	0.81[ASN][1000 genomes]
rs11987795	0.83[ASN][1000 genomes]
rs12056606	0.82[ASN][1000 genomes]
rs12549718	0.81[ASN][1000 genomes]
rs13256745	0.82[ASN][1000 genomes]
rs1648121	0.82[AFR][1000 genomes]
rs28626408	0.81[AFR][1000 genomes]
rs34826093	0.80[ASN][1000 genomes]
rs3739431	0.83[ASN][1000 genomes]
rs4272427	0.83[ASN][1000 genomes]
rs4294230	0.84[AFR][1000 genomes]
rs4523300	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4559283	0.82[ASN][1000 genomes]
rs4623474	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4736844	0.87[ASN][1000 genomes]
rs4736846	0.82[ASN][1000 genomes]
rs4737084	0.83[AFR][1000 genomes]
rs4737087	0.82[ASN][1000 genomes]
rs4737088	0.81[ASN][1000 genomes]
rs6474429	0.87[AFR][1000 genomes]
rs7463608	0.81[AFR][1000 genomes]
rs7825403	0.82[ASN][1000 genomes]
rs7829140	0.81[ASN][1000 genomes]
rs7835112	0.82[ASN][1000 genomes]
rs7838753	0.80[ASN][1000 genomes]
rs7839805	0.82[ASN][1000 genomes]
rs7845889	0.82[ASN][1000 genomes]
rs9298632	0.81[ASN][1000 genomes]
rs9657192	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	nsv429912	chr8:42852444-43701143	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv869499	chr8:42858608-43541986	Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv916847	chr8:42858611-43541984	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
11	nsv1027779	chr8:42863024-43729296	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
12	nsv1025336	chr8:42905623-43333638	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
13	nsv539564	chr8:42905623-43333638	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
14	nsv831302	chr8:42909483-43105520	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
15	nsv1029380	chr8:42924737-43729296	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
16	nsv539565	chr8:42924737-43729296	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
17	nsv1021734	chr8:42936943-43824036	Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
18	nsv470208	chr8:42937608-43791691	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
19	nsv1021100	chr8:42938287-43333639	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
20	nsv539566	chr8:42938287-43333639	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
21	nsv1035031	chr8:42940043-43575771	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
22	nsv1031842	chr8:42940043-43729296	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
23	nsv532469	chr8:42970273-43528350	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
24	nsv1027553	chr8:42985051-43729296	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
25	nsv1025569	chr8:42985051-43824036	Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers 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	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42996800-43025600	Weak transcription	Spleen	Spleen
2	chr8:42996800-43025800	Weak transcription	Small Intestine	intestine
3	chr8:42997000-43016600	Weak transcription	Gastric	stomach
4	chr8:42997200-43007000	Weak transcription	Ovary	ovary
5	chr8:42997200-43015400	Weak transcription	Aorta	Aorta
6	chr8:42997200-43015400	Weak transcription	Pancreas	Pancrea
7	chr8:42997200-43016400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:42997200-43025000	Weak transcription	Colonic Mucosa	Colon
9	chr8:42997200-43025800	Weak transcription	Psoas Muscle	Psoas
10	chr8:42997400-43008600	Weak transcription	Primary T cells from cord blood	blood
11	chr8:42997400-43014000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr8:42997400-43014000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr8:42997400-43015400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:42997400-43016200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:42997400-43016600	Weak transcription	Right Ventricle	heart
16	chr8:42997600-43008600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr8:42997600-43008600	Weak transcription	Fetal Brain Male	brain
18	chr8:42997600-43013800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr8:42997600-43015800	Weak transcription	A549	lung
20	chr8:42997600-43021800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr8:42997600-43025400	Weak transcription	Fetal Thymus	thymus
22	chr8:42997600-43031000	Weak transcription	Stomach Mucosa	stomach
23	chr8:42997800-43013600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr8:42997800-43013600	Weak transcription	HSMM	muscle
25	chr8:42997800-43013800	Weak transcription	Liver	Liver
26	chr8:42997800-43014600	Weak transcription	Brain Hippocampus Middle	brain
27	chr8:42997800-43015000	Weak transcription	Hela-S3	cervix
28	chr8:42997800-43016600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:42998000-43013800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr8:42998000-43014000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr8:42998000-43014600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:42998000-43014800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:42998000-43015200	Weak transcription	NHLF	lung
34	chr8:42998000-43016600	Weak transcription	Brain Angular Gyrus	brain
35	chr8:42998200-43006000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:42998200-43008600	Weak transcription	Fetal Heart	heart
37	chr8:42998200-43013600	Weak transcription	NH-A	brain
38	chr8:42998200-43014200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr8:42998200-43024400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr8:42998600-43006200	Weak transcription	Brain Anterior Caudate	brain
41	chr8:42998600-43008200	Weak transcription	NHDF-Ad	bronchial
42	chr8:42998600-43008600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr8:42998600-43008600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr8:42998600-43016200	Weak transcription	HSMMtube	muscle
45	chr8:42998600-43016400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:42998800-43018000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:42999800-43016600	Weak transcription	Thymus	Thymus
48	chr8:43000400-43016600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr8:43001400-43007600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr8:43001400-43008600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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