Variant report

Variant	rs10913130
Chromosome Location	chr1:176019122-176019123
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:176015298..176018054-chr1:176018508..176020268,2	K562	blood:
2	chr1:176012549..176014630-chr1:176018952..176021858,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10753116	1.00[EUR][1000 genomes]
rs10798426	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1858182	1.00[AMR][1000 genomes]
rs2049256	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2177205	1.00[EUR][1000 genomes]
rs2481638	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2481645	1.00[EUR][1000 genomes]
rs2481654	1.00[EUR][1000 genomes]
rs2502846	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3979615	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4361950	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4622022	1.00[EUR][1000 genomes]
rs4631649	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650931	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6657175	1.00[EUR][1000 genomes]
rs6662293	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6693536	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7551432	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs812066	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872561	chr1:175949646-176092167	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175957800-176022000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:175976800-176046000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:175978200-176050600	Weak transcription	Aorta	Aorta
4	chr1:175978400-176069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:175979600-176045400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:175980200-176028000	Weak transcription	K562	blood
7	chr1:175989800-176036400	Weak transcription	Pancreas	Pancrea
8	chr1:175994200-176065200	Weak transcription	Psoas Muscle	Psoas
9	chr1:176003800-176021400	Weak transcription	Osteobl	bone
10	chr1:176004000-176021200	Weak transcription	A549	lung
11	chr1:176004000-176026400	Weak transcription	Small Intestine	intestine
12	chr1:176004000-176036400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:176004200-176039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:176006000-176045200	Weak transcription	GM12878-XiMat	blood
15	chr1:176006200-176049000	Weak transcription	HSMM	muscle
16	chr1:176007600-176020200	Weak transcription	Fetal Heart	heart
17	chr1:176007800-176020400	Weak transcription	Fetal Brain Female	brain
18	chr1:176007800-176066400	Weak transcription	Fetal Brain Male	brain
19	chr1:176010200-176048000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:176010400-176019200	Weak transcription	NHDF-Ad	bronchial
21	chr1:176010400-176066000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:176012200-176024200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:176012200-176028200	Weak transcription	Fetal Intestine Small	intestine
24	chr1:176012200-176044800	Weak transcription	Fetal Stomach	stomach
25	chr1:176012200-176045200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:176012200-176045200	Weak transcription	Esophagus	oesophagus
27	chr1:176012200-176045200	Weak transcription	Fetal Lung	lung
28	chr1:176012400-176019400	Weak transcription	Brain Anterior Caudate	brain
29	chr1:176012400-176019400	Weak transcription	Fetal Thymus	thymus
30	chr1:176012400-176024000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:176012400-176029200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:176012400-176036400	Weak transcription	Fetal Muscle Leg	muscle
33	chr1:176012400-176036400	Weak transcription	Gastric	stomach
34	chr1:176012400-176036400	Weak transcription	Left Ventricle	heart
35	chr1:176012400-176036400	Weak transcription	Spleen	Spleen
36	chr1:176012400-176045400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr1:176012400-176045800	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:176012400-176048200	Weak transcription	Ovary	ovary
39	chr1:176012400-176048200	Weak transcription	Thymus	Thymus
40	chr1:176012400-176062800	Weak transcription	Lung	lung
41	chr1:176012400-176065800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:176012800-176020400	Weak transcription	Adipose Nuclei	Adipose
43	chr1:176012800-176021200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:176012800-176027800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:176012800-176030400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:176012800-176036800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:176012800-176038000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:176012800-176040000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:176012800-176042600	Weak transcription	Liver	Liver
50	chr1:176012800-176047000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links