Variant report

Variant	rs976118
Chromosome Location	chr2:205916020-205916021
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:205910404..205913251-chr2:205914119..205916559,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10084396	1.00[EUR][1000 genomes]
rs10166926	1.00[EUR][1000 genomes]
rs1397486	1.00[AMR][1000 genomes]
rs1510766	1.00[EUR][1000 genomes]
rs1567502	1.00[EUR][1000 genomes]
rs4145000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4673312	1.00[EUR][1000 genomes]
rs4675479	1.00[EUR][1000 genomes]
rs4675480	1.00[EUR][1000 genomes]
rs4675483	1.00[EUR][1000 genomes]
rs6748535	1.00[EUR][1000 genomes]
rs73054969	1.00[EUR][1000 genomes]
rs73054972	1.00[EUR][1000 genomes]
rs73054975	1.00[EUR][1000 genomes]
rs73982803	1.00[EUR][1000 genomes]
rs7580880	1.00[EUR][1000 genomes]
rs976119	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs976120	1.00[AMR][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	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv16739	chr2:205898770-206127984	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205899800-205920600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:205900400-205920600	Weak transcription	Aorta	Aorta
3	chr2:205903400-205918600	Weak transcription	Fetal Stomach	stomach
4	chr2:205906800-205919600	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:205908400-205918600	Weak transcription	Brain Substantia Nigra	brain
6	chr2:205909600-205916600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:205911000-205916400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:205911800-205917600	Weak transcription	HSMMtube	muscle
9	chr2:205912200-205920200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:205912400-205916200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:205912600-205924600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:205912800-205916400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:205912800-205918600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:205913200-205920600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:205913400-205918800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:205913400-205920600	Weak transcription	HSMM	muscle
17	chr2:205915800-205916800	Enhancers	Fetal Lung	lung
18	chr2:205916000-205916600	Weak transcription	Pancreas	Pancrea
19	chr2:205916000-205916800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr2:205916000-205917200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:205916000-205918800	Weak transcription	A549	lung

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