Variant report

Variant	rs7747948
Chromosome Location	chr6:149795522-149795523
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:149637666..149639444-chr6:149793847..149796038,2	K562	blood:
2	chr6:149795286..149796796-chr6:149799603..149801991,2	MCF-7	breast:
3	chr6:149795137..149796969-chr6:149800706..149802832,2	K562	blood:
4	chr6:149792520..149794344-chr6:149794518..149797030,2	K562	blood:

Variant related genes	Relation type
ENSG00000055208	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1001305	1.00[ASN][1000 genomes]
rs11155646	0.91[ASN][1000 genomes]
rs11155654	1.00[ASN][1000 genomes]
rs12192159	1.00[ASN][1000 genomes]
rs12192814	0.91[ASN][1000 genomes]
rs12195922	0.82[ASN][1000 genomes]
rs58747890	1.00[ASN][1000 genomes]
rs62441727	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911411	0.91[ASN][1000 genomes]
rs6932778	1.00[ASN][1000 genomes]
rs7741099	1.00[ASN][1000 genomes]
rs7747354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7762222	1.00[ASN][1000 genomes]
rs9485385	0.91[ASN][1000 genomes]
rs9485392	1.00[ASN][1000 genomes]
rs9485394	0.91[ASN][1000 genomes]
rs9485397	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9498349	0.91[ASN][1000 genomes]
rs9498351	0.91[ASN][1000 genomes]
rs9498352	1.00[ASN][1000 genomes]
rs9498353	1.00[ASN][1000 genomes]
rs9498354	1.00[ASN][1000 genomes]
rs9498355	1.00[ASN][1000 genomes]
rs9498356	1.00[ASN][1000 genomes]
rs9498358	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530444	chr6:149654540-149848997	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv470866	chr6:149744632-149806552	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv464076	chr6:149755695-149798835	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv604846	chr6:149755695-149798835	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1832313	chr6:149789511-149840750	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149776800-149802000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:149782200-149802000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:149783200-149802400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:149789400-149806000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:149789600-149798400	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr6:149790000-149796000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
7	chr6:149790200-149802000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:149790400-149802200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr6:149790600-149795600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr6:149790800-149795600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr6:149791000-149799000	Genic enhancers	Primary B cells from cord blood	blood
12	chr6:149792000-149796400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr6:149792000-149800200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:149792600-149803000	Weak transcription	Fetal Brain Female	brain
15	chr6:149792800-149796200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
16	chr6:149792800-149797000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:149793200-149801800	Weak transcription	Thymus	Thymus
18	chr6:149793400-149796600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
19	chr6:149794000-149796000	Enhancers	Fetal Thymus	thymus
20	chr6:149794200-149795800	Enhancers	Adipose Nuclei	Adipose
21	chr6:149794200-149795800	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr6:149794200-149796000	Active TSS	Rectal Smooth Muscle	rectum
23	chr6:149794200-149796000	Enhancers	Right Ventricle	heart
24	chr6:149794200-149796200	Weak transcription	Small Intestine	intestine
25	chr6:149794200-149796400	Enhancers	Spleen	Spleen
26	chr6:149794400-149798000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr6:149794400-149800000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:149794600-149795600	Flanking Active TSS	Colonic Mucosa	Colon
29	chr6:149794600-149795600	Enhancers	Fetal Intestine Small	intestine
30	chr6:149794600-149795600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr6:149794600-149796000	Enhancers	Stomach Mucosa	stomach
32	chr6:149794800-149796400	Enhancers	Fetal Intestine Large	intestine
33	chr6:149795000-149795600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr6:149795000-149796000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr6:149795000-149796600	Enhancers	HepG2	liver
36	chr6:149795000-149799800	Weak transcription	Esophagus	oesophagus
37	chr6:149795000-149801800	Genic enhancers	Primary B cells from peripheral blood	blood
38	chr6:149795000-149802000	Weak transcription	Placenta	Placenta
39	chr6:149795200-149795600	Weak transcription	Lung	lung
40	chr6:149795200-149795800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
41	chr6:149795200-149796400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr6:149795200-149796600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr6:149795200-149802800	Weak transcription	Right Atrium	heart
44	chr6:149795400-149795800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr6:149795400-149795800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr6:149795400-149796000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:149795400-149796000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:149795400-149796000	Enhancers	Hela-S3	cervix
49	chr6:149795400-149796600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:149795400-149796600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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