Variant report

Variant	rs2051008
Chromosome Location	chr6:144022712-144022713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144015602..144018341-chr6:144021601..144023244,2	K562	blood:
2	chr6:144018054..144020954-chr6:144022528..144024554,3	MCF-7	breast:
3	chr6:143993920..143996702-chr6:144021547..144023983,2	MCF-7	breast:
4	chr6:144022138..144024563-chr6:144033976..144035577,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11155318	0.88[ASN][1000 genomes]
rs11155320	0.87[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs11962519	0.84[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs12530310	0.88[ASN][1000 genomes]
rs13190772	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs13191259	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13204954	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs13220613	1.00[JPT][hapmap]
rs2092762	0.90[ASN][1000 genomes]
rs2474150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3924968	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4523103	0.91[JPT][hapmap]
rs6570571	0.88[ASN][1000 genomes]
rs6570572	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6570573	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6913687	0.86[ASN][1000 genomes]
rs6916245	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs6931556	0.87[ASN][1000 genomes]
rs7450663	0.82[ASN][1000 genomes]
rs7738179	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7739094	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7740883	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs7741901	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7747182	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7758298	0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs7760178	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs7762598	0.88[ASN][1000 genomes]
rs7764549	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7766091	1.00[JPT][hapmap]
rs7770812	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7771214	1.00[JPT][hapmap]
rs7772898	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7773502	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs910419	0.87[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs9321933	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9321934	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9321935	0.83[CHB][hapmap]
rs9376773	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9376777	0.87[ASN][1000 genomes]
rs9390127	0.83[ASN][1000 genomes]
rs9399454	0.87[ASN][1000 genomes]
rs9399456	0.85[ASN][1000 genomes]
rs9403520	0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs9403522	0.88[ASN][1000 genomes]
rs9484785	0.91[JPT][hapmap]
rs9484794	0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs9496712	0.86[JPT][hapmap]
rs9496718	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9496721	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9496729	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9496733	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9496734	0.85[ASN][1000 genomes]
rs9496735	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758084	chr6:143916621-144079976	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759476	chr6:143916621-144079976	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv886737	chr6:144010570-144033992	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144011600-144053200	Weak transcription	Hela-S3	cervix
2	chr6:144012200-144026800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:144014200-144027800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:144014200-144039800	Weak transcription	Pancreas	Pancrea
5	chr6:144015400-144034600	Weak transcription	Esophagus	oesophagus
6	chr6:144016200-144023000	Enhancers	Adipose Nuclei	Adipose
7	chr6:144016200-144037200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:144016200-144038000	Weak transcription	NHEK	skin
9	chr6:144016600-144034000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:144016600-144034000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:144017000-144023000	Weak transcription	Fetal Intestine Small	intestine
12	chr6:144017000-144023200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:144017000-144026800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr6:144017000-144038200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:144017200-144044200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:144017400-144034400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr6:144017600-144026800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:144017800-144047200	Weak transcription	K562	blood
19	chr6:144018000-144030800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr6:144018200-144023000	Weak transcription	Aorta	Aorta
21	chr6:144018200-144026800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:144018200-144044400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:144018600-144030600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr6:144019000-144028800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:144019200-144023200	Enhancers	HUVEC	blood vessel
26	chr6:144019200-144023800	Enhancers	Fetal Muscle Leg	muscle
27	chr6:144019400-144023800	Enhancers	Fetal Stomach	stomach
28	chr6:144019600-144023600	Enhancers	Ovary	ovary
29	chr6:144020200-144026800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:144020200-144034600	Weak transcription	Spleen	Spleen
31	chr6:144020400-144023800	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr6:144020400-144030800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:144020800-144026600	Weak transcription	HepG2	liver
34	chr6:144021000-144026800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:144021200-144027200	Weak transcription	Gastric	stomach
36	chr6:144021600-144022800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:144021600-144022800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:144021600-144023200	Enhancers	Fetal Kidney	kidney
39	chr6:144021600-144030800	Weak transcription	Right Ventricle	heart
40	chr6:144021800-144022800	Enhancers	HSMM	muscle
41	chr6:144021800-144022800	Enhancers	NH-A	brain
42	chr6:144021800-144023000	Enhancers	Colon Smooth Muscle	Colon
43	chr6:144021800-144023200	Enhancers	Brain Substantia Nigra	brain
44	chr6:144021800-144023200	Enhancers	Rectal Smooth Muscle	rectum
45	chr6:144021800-144023200	Enhancers	Stomach Mucosa	stomach
46	chr6:144021800-144023200	Enhancers	Osteobl	bone
47	chr6:144021800-144023400	Enhancers	Small Intestine	intestine
48	chr6:144021800-144026800	Weak transcription	Placenta	Placenta
49	chr6:144021800-144026800	Weak transcription	Lung	lung
50	chr6:144021800-144030800	Weak transcription	Left Ventricle	heart

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