Variant report

Variant	rs2715118
Chromosome Location	chr7:50777652-50777653
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:50777602-50778250	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50775453..50778536-chr7:50778993..50781858,3	MCF-7	breast:
2	chr7:50771946..50774257-chr7:50776696..50780294,3	K562	blood:

Variant related genes	Relation type
GRB10	TF binding region
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1004402	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1019002	1.00[CEU][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10216232	1.00[CEU][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1024532	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1548609	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs2011899	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2108350	1.00[CEU][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2190497	0.81[JPT][hapmap]
rs2190501	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2190503	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2237469	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2237481	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2237488	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2301926	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2301927	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2329492	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2529400	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2529404	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2529407	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2529409	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2715102	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2715105	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2715110	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2715117	0.81[JPT][hapmap]
rs2715125	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2715128	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2715134	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3800999	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4947432	1.00[CEU][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4947444	1.00[CEU][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4947446	1.00[CEU][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4947804	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4947835	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4947836	1.00[CEU][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4947837	1.00[CEU][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4947842	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4947866	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4947886	0.83[AMR][1000 genomes]
rs4947890	0.83[AMR][1000 genomes]
rs4947891	0.83[AMR][1000 genomes]
rs6593140	1.00[CEU][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6593142	1.00[CEU][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6593171	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6945302	1.00[CEU][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6973119	1.00[CEU][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6978627	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs757775	1.00[CEU][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7791286	0.85[CEU][hapmap]
rs886821	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs962508	1.00[CEU][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs977791	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs990358	1.00[CEU][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50742600-50792000	Weak transcription	Primary T cells from cord blood	blood
2	chr7:50750000-50778600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:50756200-50779200	Weak transcription	Osteobl	bone
4	chr7:50758800-50779400	Weak transcription	Fetal Kidney	kidney
5	chr7:50763400-50806800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:50764000-50778800	Weak transcription	HSMM	muscle
7	chr7:50766400-50779800	Weak transcription	Brain Germinal Matrix	brain
8	chr7:50766400-50783200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:50766400-50785800	Weak transcription	Small Intestine	intestine
10	chr7:50766600-50779000	Weak transcription	Fetal Lung	lung
11	chr7:50770400-50778000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:50770400-50778000	Weak transcription	Spleen	Spleen
13	chr7:50770400-50778800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:50770400-50779000	Weak transcription	Ovary	ovary
15	chr7:50770600-50779200	Weak transcription	NH-A	brain
16	chr7:50770600-50779200	Weak transcription	NHDF-Ad	bronchial
17	chr7:50770600-50779600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:50770600-50779600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:50771400-50779600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:50771600-50780200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:50771800-50777800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:50772000-50791600	Weak transcription	K562	blood
23	chr7:50773000-50780400	Weak transcription	Fetal Brain Female	brain
24	chr7:50773000-50780800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:50773000-50781200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:50773000-50789200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:50773000-50807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:50773400-50778000	Enhancers	Liver	Liver
29	chr7:50773600-50788600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:50773800-50786600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:50774200-50778000	Enhancers	Stomach Smooth Muscle	stomach
32	chr7:50774200-50779800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:50774400-50778000	Enhancers	Left Ventricle	heart
34	chr7:50774400-50778000	Enhancers	Right Ventricle	heart
35	chr7:50774400-50779800	Enhancers	Lung	lung
36	chr7:50774400-50780200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:50774600-50779000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:50774600-50781000	Weak transcription	Aorta	Aorta
39	chr7:50774600-50782400	Weak transcription	HMEC	breast
40	chr7:50774800-50778800	Weak transcription	Placenta	Placenta
41	chr7:50774800-50779000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:50774800-50789200	Weak transcription	NHLF	lung
43	chr7:50775000-50778800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:50775200-50779000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:50775200-50779000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:50775600-50778800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:50775600-50779000	Weak transcription	Adipose Nuclei	Adipose
48	chr7:50776000-50777800	Enhancers	Brain Substantia Nigra	brain
49	chr7:50776200-50778400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr7:50776400-50778000	Weak transcription	Colon Smooth Muscle	Colon

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