Variant report

Variant	rs10163093
Chromosome Location	chr15:40606918-40606919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr15:40606852-40607610	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr15:40606804-40607505	HUVEC	blood vessel:	n/a	n/a
3	GATA3	chr15:40606904-40607582	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr15:40606906-40606919	HUVEC	blood vessel:	n/a	n/a
5	GATA2	chr15:40605734-40607720	HUVEC	blood vessel:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40606578..40610704-chr15:40612489..40616999,9	K562	blood:
2	chr15:40597155..40599934-chr15:40605080..40607975,2	K562	blood:
3	chr15:40606578..40609257-chr15:40612890..40617072,4	K562	blood:
4	chr15:40596629..40600129-chr15:40604012..40607975,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000244705	TF binding region
ENSG00000137841	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10163076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11856877	0.86[AFR][1000 genomes]
rs2118958	0.84[ASN][1000 genomes]
rs34513772	0.81[ASN][1000 genomes]
rs3743140	0.82[AFR][1000 genomes]
rs68063243	0.81[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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv1850798	chr15:40560607-40622191	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv827305	chr15:40596162-40625922	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv984054	chr15:40603452-40612578	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40584200-40614800	Weak transcription	Gastric	stomach
2	chr15:40600000-40614600	Weak transcription	Brain Substantia Nigra	brain
3	chr15:40601200-40612800	Weak transcription	Right Ventricle	heart
4	chr15:40602000-40612600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:40602000-40613000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:40602000-40614600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr15:40602200-40612600	Weak transcription	Spleen	Spleen
8	chr15:40602600-40614600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:40604600-40607400	Enhancers	Pancreas	Pancrea
10	chr15:40604600-40607800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:40604600-40608000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr15:40605000-40607800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr15:40605200-40607400	Enhancers	Fetal Heart	heart
14	chr15:40605200-40607800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr15:40605400-40608000	Enhancers	Primary hematopoietic stem cells	blood
16	chr15:40605600-40607200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr15:40605600-40607200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr15:40605600-40607400	Enhancers	Thymus	Thymus
19	chr15:40605600-40607600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr15:40605600-40607600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:40605600-40607800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr15:40605600-40607800	Enhancers	HMEC	breast
23	chr15:40605600-40608000	Enhancers	HSMM	muscle
24	chr15:40605600-40608200	Enhancers	Osteobl	bone
25	chr15:40605800-40607000	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr15:40605800-40607400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr15:40605800-40607400	Enhancers	Hela-S3	cervix
28	chr15:40605800-40607600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:40605800-40607600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr15:40605800-40607800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr15:40605800-40607800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr15:40605800-40607800	Enhancers	NHDF-Ad	bronchial
33	chr15:40605800-40608000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr15:40605800-40608200	Enhancers	HUVEC	blood vessel
35	chr15:40606000-40607400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr15:40606000-40607400	Enhancers	Fetal Thymus	thymus
37	chr15:40606000-40607400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr15:40606000-40615200	Weak transcription	Psoas Muscle	Psoas
39	chr15:40606200-40607200	Weak transcription	Fetal Brain Female	brain
40	chr15:40606200-40607200	Weak transcription	NH-A	brain
41	chr15:40606200-40607600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:40606200-40607800	Enhancers	NHEK	skin
43	chr15:40606400-40607800	Enhancers	HSMMtube	muscle
44	chr15:40606400-40608000	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr15:40606600-40607200	Weak transcription	Lung	lung
46	chr15:40606600-40607800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr15:40606600-40615000	Weak transcription	Colonic Mucosa	Colon
48	chr15:40606800-40607600	Weak transcription	Placenta	Placenta
49	chr15:40606800-40608000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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