Variant report

Variant	rs10191591
Chromosome Location	chr2:149060340-149060341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10084377	1.00[AMR][1000 genomes]
rs10172107	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10172459	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10174899	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10175126	0.89[AFR][1000 genomes]
rs10179991	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10181462	0.89[AFR][1000 genomes]
rs10186976	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10187257	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10189852	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10199100	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10206286	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13385697	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13397712	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13403934	0.81[AFR][1000 genomes]
rs13409565	1.00[AMR][1000 genomes]
rs13419602	1.00[AMR][1000 genomes]
rs13420788	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13422826	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13426081	0.89[AFR][1000 genomes]
rs28405957	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28594070	0.89[AFR][1000 genomes]
rs28605140	1.00[AMR][1000 genomes]
rs28647742	0.86[AFR][1000 genomes]
rs62182804	0.88[AFR][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	nsv869146	chr2:148787051-149060763	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1009608	chr2:148897348-149133718	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2753542	chr2:149004714-149268503	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv523090	chr2:149037012-149110873	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149012800-149096000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:149017400-149062800	Weak transcription	Fetal Lung	lung
3	chr2:149017400-149070600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:149017600-149060800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:149026000-149070400	Weak transcription	Fetal Intestine Small	intestine
6	chr2:149031400-149079000	Weak transcription	Left Ventricle	heart
7	chr2:149042200-149070600	Weak transcription	Ovary	ovary
8	chr2:149043400-149063600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:149045600-149060600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:149045600-149070600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:149050600-149062600	Weak transcription	Fetal Stomach	stomach
12	chr2:149053000-149060600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:149055200-149072400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr2:149056000-149060800	Weak transcription	NH-A	brain
15	chr2:149056000-149061600	Weak transcription	Primary B cells from cord blood	blood
16	chr2:149056000-149063000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:149056000-149070000	Weak transcription	Primary T cells from cord blood	blood
18	chr2:149056000-149076400	Weak transcription	Esophagus	oesophagus
19	chr2:149056600-149070800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:149056800-149070600	Weak transcription	Thymus	Thymus
21	chr2:149057800-149064000	Enhancers	Fetal Brain Male	brain
22	chr2:149058200-149060400	Weak transcription	HSMM	muscle
23	chr2:149058600-149060800	Weak transcription	Fetal Brain Female	brain
24	chr2:149058600-149062400	Enhancers	Brain Germinal Matrix	brain
25	chr2:149058600-149063000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:149058600-149063000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:149058600-149076400	Weak transcription	Aorta	Aorta
28	chr2:149058800-149060800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:149059200-149060600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr2:149059200-149064800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr2:149059400-149060600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:149059400-149060800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr2:149059400-149063000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr2:149059400-149100400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:149059600-149060600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:149059600-149063400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:149059600-149064000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr2:149059600-149064600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr2:149060000-149063000	Weak transcription	HSMMtube	muscle
40	chr2:149060200-149060400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:149060200-149060400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:149060200-149062000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr2:149060200-149062200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:149060200-149064000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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