Variant report

Variant	rs1807139
Chromosome Location	chr6:5301353-5301354
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5295225..5299115-chr6:5300154..5305822,5	K562	blood:
2	chr6:5259995..5261574-chr6:5300847..5302570,2	K562	blood:

Variant related genes	Relation type
ENSG00000214113	Chromatin interaction
ENSG00000145982	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11752747	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2224393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6597125	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs6926122	1.00[JPT][hapmap]
rs7751332	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7761816	1.00[CHB][hapmap]
rs7765867	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes]
rs7769327	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7771926	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs797130	1.00[JPT][hapmap]
rs797135	1.00[JPT][hapmap]
rs797136	1.00[JPT][hapmap]
rs797145	1.00[JPT][hapmap]
rs808813	1.00[JPT][hapmap]
rs9328291	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9502286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs9502289	1.00[JPT][hapmap]
rs9504375	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs9504376	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv600872	chr6:4975313-5342190	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1034681	chr6:5070351-5387176	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv538113	chr6:5070351-5387176	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1018152	chr6:5077025-5387176	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv600873	chr6:5089278-5400658	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1030254	chr6:5132261-5431585	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1034463	chr6:5137959-5345678	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1021646	chr6:5157795-5367254	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv538115	chr6:5157795-5367254	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1029609	chr6:5187633-5397254	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv1035080	chr6:5206533-5396019	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv538116	chr6:5206533-5396019	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv1016456	chr6:5216835-5315913	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv538117	chr6:5216835-5315913	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv1019428	chr6:5216835-5627839	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv538118	chr6:5216835-5627839	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv1028185	chr6:5247624-5340163	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv830578	chr6:5264086-5455570	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv1022911	chr6:5286297-5322133	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv538119	chr6:5286297-5322133	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv1022738	chr6:5298362-5411645	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5262400-5302400	Weak transcription	Aorta	Aorta
2	chr6:5280800-5308200	Weak transcription	Primary T cells from cord blood	blood
3	chr6:5287800-5313600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:5288000-5303000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr6:5288000-5316200	Weak transcription	Fetal Stomach	stomach
6	chr6:5288400-5302800	Weak transcription	Esophagus	oesophagus
7	chr6:5288400-5324000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:5288400-5331000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:5288600-5302800	Weak transcription	HMEC	breast
10	chr6:5288600-5303000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr6:5288600-5303200	Weak transcription	NHEK	skin
12	chr6:5292200-5303200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:5292800-5334400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr6:5293600-5301400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr6:5293600-5302200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr6:5293600-5302400	Weak transcription	Colon Smooth Muscle	Colon
17	chr6:5293800-5306200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:5295000-5302400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr6:5295000-5302400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:5295200-5302400	Weak transcription	Fetal Muscle Leg	muscle
21	chr6:5295200-5302800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:5295200-5306000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:5295200-5311600	Weak transcription	Small Intestine	intestine
24	chr6:5295400-5302200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr6:5295400-5302200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr6:5295400-5302200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr6:5295400-5302200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr6:5295400-5302400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:5295400-5302400	Weak transcription	Pancreas	Pancrea
30	chr6:5295400-5302600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:5295400-5302600	Weak transcription	Left Ventricle	heart
32	chr6:5295400-5303000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr6:5295400-5305800	Weak transcription	Fetal Intestine Large	intestine
34	chr6:5295400-5325000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:5295600-5301600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr6:5296200-5302800	Weak transcription	Brain Anterior Caudate	brain
37	chr6:5296200-5302800	Weak transcription	Right Ventricle	heart
38	chr6:5296200-5316000	Weak transcription	Lung	lung
39	chr6:5296400-5306000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:5298200-5303400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr6:5298400-5303200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:5298600-5303200	Weak transcription	HepG2	liver
43	chr6:5298600-5305000	Weak transcription	Fetal Intestine Small	intestine
44	chr6:5299800-5301800	Weak transcription	GM12878-XiMat	blood
45	chr6:5299800-5302400	Enhancers	K562	blood
46	chr6:5300400-5302800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr6:5300600-5303800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr6:5300800-5302200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr6:5300800-5302800	Weak transcription	HSMMtube	muscle
50	chr6:5301000-5315400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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