Variant report

Variant	rs11982134
Chromosome Location	chr7:6298701-6298702
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6297633..6303584-chr7:6308773..6313501,5	K562	blood:
2	chr7:6297786..6300256-chr7:6301628..6303560,2	K562	blood:
3	chr7:6294368..6296764-chr7:6296923..6299779,2	K562	blood:
4	chr7:6295150..6302020-chr7:6308719..6313384,10	MCF-7	breast:
5	chr7:6286204..6288303-chr7:6297783..6299306,2	K562	blood:
6	chr7:6297458..6299890-chr7:6310295..6313598,3	K562	blood:
7	chr7:6289334..6292556-chr7:6296327..6298930,3	K562	blood:

Variant related genes	Relation type
ENSG00000008256	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10215951	1.00[EUR][1000 genomes]
rs11972302	0.87[AFR][1000 genomes]
rs56009110	1.00[EUR][1000 genomes]
rs58221310	1.00[EUR][1000 genomes]
rs59898429	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6463539	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6942707	1.00[EUR][1000 genomes]
rs6959408	1.00[EUR][1000 genomes]
rs7784130	1.00[EUR][1000 genomes]
rs7786473	1.00[AMR][1000 genomes]
rs7791072	1.00[AMR][1000 genomes]
rs7800466	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7805483	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs958329	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
3	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription 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 target site	138 gene(s)	inside rSNPs	diseases
5	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
7	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
8	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv482829	chr7:6231809-6407606	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1032987	chr7:6246313-6373054	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv538714	chr7:6246313-6373054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
15	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6288200-6310400	Weak transcription	Brain Angular Gyrus	brain
2	chr7:6288400-6300000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:6288400-6306600	Weak transcription	Esophagus	oesophagus
4	chr7:6289200-6300000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:6292400-6300000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:6293000-6306400	Weak transcription	NHEK	skin
7	chr7:6293400-6306600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:6293600-6299000	Enhancers	HSMMtube	muscle
9	chr7:6293800-6299000	Enhancers	HSMM	muscle
10	chr7:6293800-6299200	Enhancers	Stomach Mucosa	stomach
11	chr7:6294200-6303200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:6294400-6300600	Enhancers	A549	lung
13	chr7:6294400-6301200	Enhancers	Adipose Nuclei	Adipose
14	chr7:6295200-6299200	Enhancers	Primary hematopoietic stem cells	blood
15	chr7:6295200-6300200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:6295600-6298800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:6295600-6299000	Flanking Active TSS	GM12878-XiMat	blood
18	chr7:6295800-6299200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr7:6295800-6299400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:6296000-6299000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr7:6296000-6299000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr7:6296000-6299000	Enhancers	Dnd41	blood
23	chr7:6296000-6300800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:6296200-6299200	Enhancers	Primary B cells from peripheral blood	blood
25	chr7:6296200-6299200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:6296400-6298800	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr7:6296400-6298800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr7:6296400-6299200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr7:6296400-6299400	Enhancers	Fetal Kidney	kidney
30	chr7:6296400-6299400	Enhancers	NH-A	brain
31	chr7:6296400-6300000	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:6296600-6299000	Enhancers	Fetal Intestine Small	intestine
33	chr7:6296600-6300000	Weak transcription	Pancreas	Pancrea
34	chr7:6296600-6300200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr7:6296600-6300200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr7:6296600-6300400	Weak transcription	Brain Anterior Caudate	brain
37	chr7:6296600-6303600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:6296800-6299000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr7:6296800-6299000	Enhancers	Duodenum Mucosa	Duodenum
40	chr7:6296800-6299200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:6296800-6302600	Enhancers	NHLF	lung
42	chr7:6296800-6308400	Weak transcription	HMEC	breast
43	chr7:6297000-6299000	Enhancers	Colon Smooth Muscle	Colon
44	chr7:6297000-6300000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr7:6297200-6299200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr7:6297200-6299400	Enhancers	Fetal Stomach	stomach
47	chr7:6297200-6300000	Enhancers	Osteobl	bone
48	chr7:6297400-6299000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr7:6297400-6299200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:6297400-6301800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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