Variant report

Variant	rs16865764
Chromosome Location	chr2:178623306-178623307
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178028920..178029952-chr2:178623265..178624263,5	K562	blood:
2	chr2:178121343..178124034-chr2:178622244..178624898,2	K562	blood:
3	chr2:178128837..178131144-chr2:178621737..178623732,2	K562	blood:
4	chr2:178620484..178623470-chr2:178626460..178628265,2	K562	blood:
5	chr2:178280600..178281341-chr2:178623291..178624076,2	MCF-7	breast:
6	chr2:178593275..178595968-chr2:178621315..178623404,2	K562	blood:
7	chr2:178582201..178583122-chr2:178623256..178624160,2	MCF-7	breast:
8	chr2:178013785..178014310-chr2:178623294..178624160,2	K562	blood:
9	chr2:178616347..178619480-chr2:178623071..178625301,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000116044	Chromatin interaction
ENSG00000222043	Chromatin interaction
ENSG00000236501	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10175364	0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs10497488	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10497489	1.00[JPT][hapmap]
rs11684634	0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs12622125	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13428806	0.85[JPT][hapmap]
rs1344916	0.92[ASN][1000 genomes]
rs1344917	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs1344925	1.00[JPT][hapmap]
rs1370655	1.00[JPT][hapmap]
rs1438037	0.92[ASN][1000 genomes]
rs1438038	0.82[CHB][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]
rs1438039	0.82[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs1438048	0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs1561319	0.82[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs1561320	0.82[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs16865726	0.92[ASN][1000 genomes]
rs16865769	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16865791	0.85[JPT][hapmap]
rs1866208	0.81[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs1866209	0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs1866210	0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs1866211	0.92[ASN][1000 genomes]
rs1866212	0.92[ASN][1000 genomes]
rs1898586	0.91[ASN][1000 genomes]
rs1946812	0.85[JPT][hapmap]
rs1975324	0.92[ASN][1000 genomes]
rs2164857	0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs2365889	0.92[ASN][1000 genomes]
rs28700947	0.87[ASN][1000 genomes]
rs2886498	0.82[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs3754991	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3754993	0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs3754994	0.92[ASN][1000 genomes]
rs3770028	1.00[JPT][hapmap]
rs3770034	0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs3770042	0.92[ASN][1000 genomes]
rs3770043	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3770047	0.85[JPT][hapmap]
rs3821007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3821009	0.85[JPT][hapmap]
rs4893839	0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs4893840	0.82[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs4893987	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs56362604	0.91[ASN][1000 genomes]
rs57242051	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57427125	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57877880	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58408943	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60748325	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61334857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433693	0.92[ASN][1000 genomes]
rs6704720	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756240	0.82[CHB][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs73030327	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73030354	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs749207	0.82[CHB][hapmap];0.92[ASN][1000 genomes]
rs749208	0.81[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs7562835	1.00[JPT][hapmap]
rs7567851	0.85[JPT][hapmap]
rs934798	1.00[JPT][hapmap]
rs998059	0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs998060	0.92[ASN][1000 genomes]
rs998061	0.92[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	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178610600-178628200	Weak transcription	Pancreas	Pancrea
2	chr2:178614800-178624000	Enhancers	Fetal Muscle Leg	muscle
3	chr2:178617800-178624000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:178617800-178624000	Enhancers	Fetal Lung	lung
5	chr2:178618200-178623600	Enhancers	Fetal Stomach	stomach
6	chr2:178618400-178628200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:178619400-178628400	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:178619600-178628200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:178619600-178628200	Weak transcription	Psoas Muscle	Psoas
10	chr2:178619600-178628200	Weak transcription	Right Atrium	heart
11	chr2:178620600-178628200	Weak transcription	Placenta	Placenta
12	chr2:178620800-178623400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr2:178621400-178624200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:178622400-178623600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:178622400-178625000	Enhancers	K562	blood
16	chr2:178623000-178623600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:178623000-178623800	Enhancers	HUVEC	blood vessel
18	chr2:178623200-178623400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr2:178623200-178623400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr2:178623200-178623600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr2:178623200-178623600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr2:178623200-178623600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:178623200-178623600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:178623200-178623600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr2:178623200-178623600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:178623200-178623600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:178623200-178623600	Enhancers	Brain Angular Gyrus	brain
28	chr2:178623200-178623600	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr2:178623200-178623600	Enhancers	Fetal Brain Female	brain
30	chr2:178623200-178623600	Enhancers	Fetal Kidney	kidney
31	chr2:178623200-178623600	Enhancers	Left Ventricle	heart
32	chr2:178623200-178623600	Enhancers	Ovary	ovary
33	chr2:178623200-178623600	Enhancers	Rectal Smooth Muscle	rectum
34	chr2:178623200-178623600	Enhancers	Stomach Smooth Muscle	stomach
35	chr2:178623200-178623800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:178623200-178623800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:178623200-178623800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:178623200-178623800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr2:178623200-178623800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr2:178623200-178623800	Enhancers	Adipose Nuclei	Adipose
41	chr2:178623200-178623800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr2:178623200-178623800	Enhancers	HSMM	muscle
43	chr2:178623200-178624000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:178623200-178624000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:178623200-178624000	Enhancers	Colon Smooth Muscle	Colon
46	chr2:178623200-178624000	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr2:178623200-178624000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr2:178623200-178624400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:178623200-178624600	Enhancers	Fetal Heart	heart
50	chr2:178623200-178625000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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