Variant report

Variant	rs4481464
Chromosome Location	chr6:5215235-5215236
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:5214686..5215658-chr6:5401229..5403280,10	K562	blood:
2	chr6:5214761..5215392-chr6:5379547..5380560,3	MCF-7	breast:
3	chr6:5209168..5211266-chr6:5213691..5215244,2	K562	blood:
4	chr6:5214746..5216032-chr6:5379652..5380557,3	K562	blood:
5	chr6:5214762..5218085-chr6:5221984..5224598,3	K562	blood:
6	chr6:5214744..5215638-chr6:5398420..5399368,7	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10498666	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17139873	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17140085	0.83[YRI][hapmap];0.84[AFR][1000 genomes]
rs17140092	0.87[ASW][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.95[MKK][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes]
rs17312134	0.91[LWK][hapmap]
rs2773292	0.94[YRI][hapmap];0.83[AFR][1000 genomes]
rs2773297	0.85[AFR][1000 genomes]
rs4502984	0.87[AFR][1000 genomes]
rs55960383	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6903805	0.84[AFR][1000 genomes]
rs6921061	1.00[CEU][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6921237	1.00[CEU][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6939454	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73363048	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73363050	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73363073	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73363074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73363091	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73363098	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73365003	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7754129	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7766566	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7768590	0.88[CEU][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7771066	0.89[ASW][hapmap];1.00[CEU][hapmap];0.85[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7772716	0.85[GIH][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.81[EUR][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:115 , 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	chr6:5206200-5215600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:5206200-5215600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr6:5206200-5246800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:5206400-5219400	Weak transcription	HMEC	breast
10	chr6:5206600-5215800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr6:5206600-5216200	Weak transcription	Pancreas	Pancrea
12	chr6:5206600-5240800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:5206800-5217400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:5206800-5221000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:5206800-5232400	Weak transcription	Psoas Muscle	Psoas
16	chr6:5207000-5231000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:5207600-5216400	Strong transcription	HepG2	liver
18	chr6:5208200-5259800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr6:5208400-5231400	Weak transcription	Brain Anterior Caudate	brain
20	chr6:5208400-5239800	Weak transcription	Liver	Liver
21	chr6:5208600-5216000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:5208800-5231000	Weak transcription	Brain Angular Gyrus	brain
23	chr6:5210000-5230400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:5211600-5215400	Strong transcription	K562	blood
25	chr6:5211800-5215600	Enhancers	Fetal Heart	heart
26	chr6:5212400-5215600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr6:5212400-5217000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:5212600-5218200	Strong transcription	Primary T cells from cord blood	blood
29	chr6:5212600-5230800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr6:5212800-5216200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr6:5213000-5215400	Strong transcription	Hela-S3	cervix
32	chr6:5213000-5215600	Strong transcription	Primary B cells from cord blood	blood
33	chr6:5213000-5216800	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr6:5213400-5215400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:5213400-5216200	Strong transcription	Fetal Brain Female	brain
36	chr6:5213400-5216400	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr6:5213600-5215400	Strong transcription	Dnd41	blood
38	chr6:5213600-5216400	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr6:5213800-5215800	Enhancers	NHLF	lung
40	chr6:5213800-5216000	Enhancers	Osteobl	bone
41	chr6:5213800-5219600	Weak transcription	Ovary	ovary
42	chr6:5214000-5215400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr6:5214000-5215600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr6:5214000-5215600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:5214000-5215600	Genic enhancers	Fetal Stomach	stomach
46	chr6:5214000-5215600	Enhancers	HSMM	muscle
47	chr6:5214000-5215600	Enhancers	NHDF-Ad	bronchial
48	chr6:5214000-5216200	Enhancers	Colon Smooth Muscle	Colon
49	chr6:5214000-5216200	Enhancers	Fetal Kidney	kidney
50	chr6:5214000-5216200	Enhancers	HSMMtube	muscle

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