Variant report

Variant	rs9504272
Chromosome Location	chr6:4854284-4854285
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4847558..4849642-chr6:4852103..4854411,2	K562	blood:
2	chr6:4806891..4809234-chr6:4853712..4855967,2	K562	blood:
3	chr6:4853455..4855875-chr6:4862739..4864405,2	K562	blood:
4	chr6:4775945..4778797-chr6:4852829..4854855,2	MCF-7	breast:
5	chr6:4853835..4856430-chr6:4856609..4858869,2	MCF-7	breast:
6	chr6:4848197..4852151-chr6:4852565..4855208,4	MCF-7	breast:
7	chr6:4847745..4850576-chr6:4852287..4854812,4	K562	blood:

Variant related genes	Relation type
ENSG00000153046	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs61739238	1.00[AMR][1000 genomes]
rs73362503	1.00[AMR][1000 genomes]
rs9502246	1.00[AMR][1000 genomes]
rs9504274	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9504280	1.00[AMR][1000 genomes]
rs9504288	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1015888	chr6:4787784-4883663	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv966675	chr6:4819733-4855009	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4844600-4859600	Weak transcription	Spleen	Spleen
2	chr6:4844800-4856600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:4844800-4863000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr6:4846400-4859000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:4847400-4871000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:4849000-4856000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:4849000-4856000	Weak transcription	Brain Angular Gyrus	brain
8	chr6:4849000-4856600	Weak transcription	Right Ventricle	heart
9	chr6:4849000-4857800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:4849000-4859000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr6:4849000-4863000	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:4849200-4857800	Weak transcription	Pancreas	Pancrea
13	chr6:4849200-4858200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr6:4849200-4858600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:4849200-4858600	Weak transcription	Brain Substantia Nigra	brain
16	chr6:4849200-4859000	Weak transcription	Brain Anterior Caudate	brain
17	chr6:4849200-4859400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:4849200-4861400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:4849200-4863200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:4849200-4865400	Weak transcription	Aorta	Aorta
21	chr6:4849400-4862400	Weak transcription	Fetal Kidney	kidney
22	chr6:4849600-4854400	Weak transcription	Osteobl	bone
23	chr6:4849600-4861400	Weak transcription	Placenta	Placenta
24	chr6:4849800-4856000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:4849800-4858200	Weak transcription	Colon Smooth Muscle	Colon
26	chr6:4849800-4858400	Weak transcription	Small Intestine	intestine
27	chr6:4849800-4863800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr6:4849800-4868000	Weak transcription	Hela-S3	cervix
29	chr6:4850000-4854400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:4850600-4857400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr6:4850800-4858600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr6:4852200-4854600	Weak transcription	Primary B cells from cord blood	blood
33	chr6:4852400-4856400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr6:4853000-4854600	Enhancers	Esophagus	oesophagus
35	chr6:4853200-4855000	Enhancers	Stomach Mucosa	stomach
36	chr6:4853200-4858000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr6:4853400-4854800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:4853400-4855200	Enhancers	A549	lung
39	chr6:4853400-4856400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr6:4853400-4858200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr6:4853400-4858600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:4853600-4854400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:4853600-4854400	Enhancers	K562	blood
44	chr6:4853800-4854400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr6:4853800-4854400	Enhancers	Fetal Heart	heart
46	chr6:4853800-4854600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr6:4853800-4854800	Strong transcription	Primary T cells from cord blood	blood
48	chr6:4854000-4854400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:4854000-4854400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:4854000-4854400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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