Variant report

Variant	rs17139796
Chromosome Location	chr6:5213998-5213999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5209168..5211266-chr6:5213691..5215244,2	K562	blood:
2	chr6:5212097..5214794-chr6:5261245..5262873,2	K562	blood:

Variant related genes	Relation type
ENSG00000145982	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2746223	0.89[ASN][1000 genomes]
rs2753219	0.94[ASN][1000 genomes]
rs2773293	0.94[ASN][1000 genomes]
rs2773332	1.00[EUR][1000 genomes]
rs466906	1.00[EUR][1000 genomes]
rs4959334	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7769219	0.89[ASN][1000 genomes]
rs9502267	1.00[EUR][1000 genomes]
rs9502269	1.00[EUR][1000 genomes]
rs9504325	1.00[EUR][1000 genomes]
rs9504326	1.00[EUR][1000 genomes]
rs9504328	1.00[EUR][1000 genomes]
rs9504329	1.00[EUR][1000 genomes]
rs9504355	1.00[EUR][1000 genomes]
rs998391	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5176200-5239600	Weak transcription	Thymus	Thymus
2	chr6:5194000-5220800	Weak transcription	GM12878-XiMat	blood
3	chr6:5205600-5218800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:5205600-5220000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:5205600-5223000	Weak transcription	Right Atrium	heart
6	chr6:5206200-5214800	Weak transcription	Esophagus	oesophagus
7	chr6:5206200-5215600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr6:5206200-5215600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:5206200-5246800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:5206400-5214000	Weak transcription	Spleen	Spleen
11	chr6:5206400-5219400	Weak transcription	HMEC	breast
12	chr6:5206600-5214000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:5206600-5214000	Weak transcription	Lung	lung
14	chr6:5206600-5214200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:5206600-5214800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:5206600-5215800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr6:5206600-5216200	Weak transcription	Pancreas	Pancrea
18	chr6:5206600-5240800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:5206800-5214000	Weak transcription	HSMM	muscle
20	chr6:5206800-5214400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:5206800-5215000	Weak transcription	HUVEC	blood vessel
22	chr6:5206800-5217400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:5206800-5221000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:5206800-5232400	Weak transcription	Psoas Muscle	Psoas
25	chr6:5207000-5231000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr6:5207600-5216400	Strong transcription	HepG2	liver
27	chr6:5208200-5259800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr6:5208400-5214800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr6:5208400-5231400	Weak transcription	Brain Anterior Caudate	brain
30	chr6:5208400-5239800	Weak transcription	Liver	Liver
31	chr6:5208600-5214000	Weak transcription	Fetal Kidney	kidney
32	chr6:5208600-5214200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:5208600-5214800	Weak transcription	Brain Substantia Nigra	brain
34	chr6:5208600-5216000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr6:5208800-5214000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:5208800-5231000	Weak transcription	Brain Angular Gyrus	brain
37	chr6:5209000-5214000	Weak transcription	Brain Hippocampus Middle	brain
38	chr6:5209000-5214200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:5209000-5214400	Weak transcription	Placenta	Placenta
40	chr6:5210000-5230400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:5210400-5214000	Weak transcription	Colon Smooth Muscle	Colon
42	chr6:5211400-5214000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr6:5211600-5215400	Strong transcription	K562	blood
44	chr6:5211800-5214800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr6:5211800-5215600	Enhancers	Fetal Heart	heart
46	chr6:5212200-5214000	Weak transcription	HSMMtube	muscle
47	chr6:5212200-5215200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:5212400-5214200	Strong transcription	Fetal Muscle Trunk	muscle
49	chr6:5212400-5214600	Strong transcription	Fetal Intestine Large	intestine
50	chr6:5212400-5215000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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