Variant report

Variant	rs736991
Chromosome Location	chr2:86014345-86014346
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:86007740..86010052-chr2:86013062..86015438,2	K562	blood:
2	chr2:85980611..85983485-chr2:86014274..86016062,2	MCF-7	breast:
3	chr2:86013750..86016057-chr2:86037086..86038756,2	K562	blood:
4	chr2:86013683..86016312-chr2:86025949..86028304,2	MCF-7	breast:
5	chr2:86012601..86015321-chr2:86017209..86019068,2	K562	blood:
6	chr2:86005993..86008298-chr2:86013315..86016426,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GNLY-4	chr2:86014008-86015162	NONHSAT072050

No data

Variant related genes	Relation type
ENSG00000168874	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1055770	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13001375	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34027204	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34117913	0.90[EUR][1000 genomes]
rs34284678	0.81[EUR][1000 genomes]
rs35074676	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4832199	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55974755	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71392945	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs750442	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs750443	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576412	0.84[AMR][1000 genomes];0.96[EUR][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	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv1001792	chr2:85983107-86016722	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv535805	chr2:85983107-86016722	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86001400-86023000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:86001600-86020000	Weak transcription	Fetal Brain Female	brain
3	chr2:86001600-86023000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:86002200-86015800	Weak transcription	A549	lung
5	chr2:86004800-86017200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:86005400-86014400	Weak transcription	Fetal Intestine Large	intestine
7	chr2:86005400-86019200	Weak transcription	HUVEC	blood vessel
8	chr2:86006600-86019000	Weak transcription	Esophagus	oesophagus
9	chr2:86006800-86020000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:86007000-86015400	Weak transcription	Brain Angular Gyrus	brain
11	chr2:86007000-86019200	Weak transcription	Hela-S3	cervix
12	chr2:86008200-86016000	Weak transcription	Pancreas	Pancrea
13	chr2:86010600-86014400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr2:86011800-86014400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:86011800-86014400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:86012000-86014800	Genic enhancers	Left Ventricle	heart
17	chr2:86012000-86016400	Enhancers	Right Atrium	heart
18	chr2:86012000-86019000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:86012200-86014400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:86012200-86014400	Genic enhancers	HSMM	muscle
21	chr2:86012200-86015200	Genic enhancers	Lung	lung
22	chr2:86012200-86015600	Weak transcription	Brain Substantia Nigra	brain
23	chr2:86012200-86015600	Bivalent Enhancer	Fetal Stomach	stomach
24	chr2:86012400-86015000	Weak transcription	Fetal Brain Male	brain
25	chr2:86012400-86016400	Genic enhancers	Right Ventricle	heart
26	chr2:86012800-86015600	Enhancers	HepG2	liver
27	chr2:86013000-86014600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:86013200-86014400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:86013200-86015400	Genic enhancers	Spleen	Spleen
30	chr2:86013200-86015800	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr2:86013200-86016000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr2:86013200-86017200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:86013200-86017400	Weak transcription	Brain Germinal Matrix	brain
34	chr2:86013200-86023000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:86013400-86014400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:86013400-86017400	Weak transcription	NH-A	brain
37	chr2:86013400-86019000	Weak transcription	Psoas Muscle	Psoas
38	chr2:86013600-86014400	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:86013600-86015400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
40	chr2:86013600-86015800	Genic enhancers	Aorta	Aorta
41	chr2:86013600-86017400	Strong transcription	Adipose Nuclei	Adipose
42	chr2:86013600-86017800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr2:86013600-86019000	Weak transcription	NHDF-Ad	bronchial
44	chr2:86013600-86023200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr2:86013800-86015000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:86013800-86015400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:86013800-86016800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:86013800-86019200	Weak transcription	HSMMtube	muscle
49	chr2:86014000-86014400	Genic enhancers	Colon Smooth Muscle	Colon
50	chr2:86014000-86014800	Enhancers	Primary neutrophils fromperipheralblood	blood

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