Variant report

Variant	rs10508930
Chromosome Location	chr10:52338100-52338101
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:52330729..52340229-chr10:52381715..52386294,12	K562	blood:
2	chr10:52334364..52340801-chr10:52380166..52385556,10	K562	blood:
3	chr10:52337504..52339571-chr10:52355930..52358209,2	K562	blood:
4	chr10:52322894..52324648-chr10:52337430..52339164,2	K562	blood:
5	chr10:52331050..52332991-chr10:52337513..52339073,2	K562	blood:
6	chr10:52324915..52329170-chr10:52337236..52340296,3	K562	blood:
7	chr10:52313555..52316104-chr10:52337795..52339466,2	K562	blood:
8	chr10:52310656..52316983-chr10:52334408..52339466,9	K562	blood:
9	chr10:52337499..52341708-chr10:52345297..52349387,5	K562	blood:
10	chr10:52318973..52324648-chr10:52334040..52339164,5	K562	blood:
11	chr10:52335913..52338170-chr10:52340995..52342949,2	MCF-7	breast:
12	chr10:52324915..52329170-chr10:52335171..52340296,4	K562	blood:
13	chr10:52331558..52333625-chr10:52337015..52339577,2	MCF-7	breast:
14	chr10:52337504..52344093-chr10:52356709..52361052,9	K562	blood:
15	chr10:52338053..52345279-chr10:52380666..52386211,11	MCF-7	breast:
16	chr10:52337416..52340160-chr10:52383643..52385478,2	MCF-7	breast:
17	chr10:52336186..52338969-chr10:52390237..52392466,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000231588	Chromatin interaction
ENSG00000251950	Chromatin interaction
ENSG00000226200	Chromatin interaction
ENSG00000198964	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10763560	0.91[YRI][hapmap]
rs11005956	0.91[YRI][hapmap]
rs12570382	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16906575	0.82[GIH][hapmap]
rs17581623	0.80[TSI][hapmap]
rs4615973	0.82[GIH][hapmap]
rs7071001	0.91[YRI][hapmap]
rs7078940	0.91[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv469522	chr10:52276564-52447589	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv482564	chr10:52276564-52447589	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv8660	chr10:52328259-52346278	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52322000-52348600	Weak transcription	Fetal Stomach	stomach
2	chr10:52329800-52341600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr10:52332400-52340200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:52332600-52343800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr10:52333200-52340600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr10:52333400-52341000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr10:52334600-52340400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr10:52334600-52341200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr10:52335000-52338200	Enhancers	Left Ventricle	heart
10	chr10:52335000-52338200	Enhancers	Pancreas	Pancrea
11	chr10:52335000-52341800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr10:52335000-52343800	Enhancers	Liver	Liver
13	chr10:52335200-52338200	Enhancers	Brain Angular Gyrus	brain
14	chr10:52335400-52338600	Enhancers	Brain Cingulate Gyrus	brain
15	chr10:52335600-52338200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr10:52335600-52338200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr10:52335600-52338200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr10:52335600-52338200	Enhancers	Adipose Nuclei	Adipose
19	chr10:52335600-52338200	Enhancers	Fetal Muscle Leg	muscle
20	chr10:52335600-52338200	Enhancers	Psoas Muscle	Psoas
21	chr10:52335600-52338200	Enhancers	Right Atrium	heart
22	chr10:52335600-52338200	Enhancers	Small Intestine	intestine
23	chr10:52335600-52338200	Enhancers	NHDF-Ad	bronchial
24	chr10:52335600-52338200	Enhancers	NHLF	lung
25	chr10:52335600-52338600	Enhancers	Brain Substantia Nigra	brain
26	chr10:52335600-52338600	Enhancers	HSMM	muscle
27	chr10:52335800-52338200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr10:52335800-52338200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr10:52335800-52338200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr10:52335800-52338600	Enhancers	Brain Germinal Matrix	brain
31	chr10:52335800-52340200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr10:52335800-52341000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr10:52336000-52338200	Enhancers	Primary B cells from peripheral blood	blood
34	chr10:52336000-52338400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr10:52336000-52338400	Enhancers	Placenta	Placenta
36	chr10:52336000-52338600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr10:52336000-52338600	Enhancers	Stomach Mucosa	stomach
38	chr10:52336000-52340800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr10:52336000-52341200	Enhancers	Fetal Intestine Large	intestine
40	chr10:52336200-52338200	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr10:52336200-52338600	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr10:52336200-52338600	Enhancers	HSMMtube	muscle
43	chr10:52336200-52338800	Flanking Active TSS	K562	blood
44	chr10:52336200-52341000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr10:52336200-52341000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr10:52336200-52341000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr10:52336200-52346000	Weak transcription	Esophagus	oesophagus
48	chr10:52336200-52349000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr10:52336400-52338200	Enhancers	Stomach Smooth Muscle	stomach
50	chr10:52336400-52346200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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