Variant report

Variant	rs9502251
Chromosome Location	chr6:4914131-4914132
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4912937..4915040-chr6:4916951..4919772,2	MCF-7	breast:
2	chr6:4910812..4914843-chr6:4941704..4944145,3	K562	blood:
3	chr6:4909132..4912021-chr6:4912164..4915211,3	K562	blood:
4	chr6:4905151..4907652-chr6:4913182..4915010,2	MCF-7	breast:
5	chr6:4912482..4914985-chr6:4916799..4919032,2	K562	blood:
6	chr6:4907717..4910185-chr6:4913859..4916843,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10080391	0.92[ASN][1000 genomes]
rs13199417	0.98[ASN][1000 genomes]
rs13212871	0.98[ASN][1000 genomes]
rs1557032	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17138859	0.87[EUR][1000 genomes]
rs17138931	0.87[EUR][1000 genomes]
rs17138959	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17138966	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2235429	0.87[EUR][1000 genomes]
rs2326553	0.98[ASN][1000 genomes]
rs4376391	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56278978	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58368827	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60609172	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60949901	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61278797	0.87[EUR][1000 genomes]
rs6916304	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6916467	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6919412	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73348319	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73348345	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73348361	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73362530	0.87[EUR][1000 genomes]
rs73362564	0.87[EUR][1000 genomes]
rs73364523	0.87[EUR][1000 genomes]
rs73364567	0.87[EUR][1000 genomes]
rs73364571	0.87[EUR][1000 genomes]
rs7743735	0.87[EUR][1000 genomes]
rs7768749	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs811251	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs947151	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9502239	0.87[EUR][1000 genomes]
rs9502247	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9502248	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9502249	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9502250	0.98[ASN][1000 genomes]
rs9504262	0.87[EUR][1000 genomes]
rs9504269	0.87[EUR][1000 genomes]
rs9504270	0.87[EUR][1000 genomes]
rs9504271	0.87[EUR][1000 genomes]
rs9504275	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9504276	0.87[EUR][1000 genomes]
rs9504281	0.87[EUR][1000 genomes]
rs9504284	0.87[EUR][1000 genomes]
rs9504286	0.87[EUR][1000 genomes];0.92[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	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	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4895000-4917000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:4900200-4915200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:4900200-4918800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:4902000-4918400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr6:4904200-4914400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:4905800-4931200	Weak transcription	HepG2	liver
7	chr6:4907400-4914200	Weak transcription	Spleen	Spleen
8	chr6:4907400-4914600	Weak transcription	Fetal Intestine Large	intestine
9	chr6:4907600-4915600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:4907600-4925200	Weak transcription	Fetal Heart	heart
11	chr6:4908000-4935600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr6:4908200-4917000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:4908200-4934800	Weak transcription	Primary B cells from cord blood	blood
14	chr6:4908400-4914200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr6:4908400-4914200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr6:4908400-4914200	Weak transcription	HSMM	muscle
17	chr6:4908400-4914200	Weak transcription	NHLF	lung
18	chr6:4908600-4914200	Weak transcription	Right Atrium	heart
19	chr6:4908600-4914800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr6:4908800-4915800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:4908800-4920800	Weak transcription	Thymus	Thymus
22	chr6:4908800-4924400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr6:4909000-4915200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:4909000-4916600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr6:4909200-4914400	Weak transcription	Right Ventricle	heart
26	chr6:4909200-4914600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:4909600-4914400	Weak transcription	Aorta	Aorta
28	chr6:4910000-4914200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:4910600-4914400	Weak transcription	HSMMtube	muscle
30	chr6:4910800-4914200	Weak transcription	Esophagus	oesophagus
31	chr6:4910800-4916600	Weak transcription	GM12878-XiMat	blood
32	chr6:4911000-4914200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:4911000-4914600	Weak transcription	Colonic Mucosa	Colon
34	chr6:4911000-4915000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:4911000-4930400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr6:4911000-4935200	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr6:4911800-4914200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:4911800-4915400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:4912000-4914200	Genic enhancers	K562	blood
40	chr6:4912200-4915000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr6:4912400-4914200	Strong transcription	Fetal Intestine Small	intestine
42	chr6:4912400-4915000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr6:4912400-4915400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr6:4912400-4915800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr6:4912600-4914800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr6:4912600-4915200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr6:4912600-4915400	Enhancers	Left Ventricle	heart
48	chr6:4912800-4914600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr6:4912800-4915000	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr6:4912800-4916000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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