Variant report

Variant	rs72874763
Chromosome Location	chr4:95381433-95381434
allele	A/C
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:95381090..95383308-chr4:95441129..95442630,2	K562	blood:
2	chr4:95378587..95381661-chr4:95382526..95385880,5	K562	blood:
3	chr4:95379639..95382312-chr4:95516678..95518762,3	K562	blood:
4	chr4:95380787..95382998-chr4:95569911..95572847,2	K562	blood:
5	chr4:95332554..95334436-chr4:95380413..95382035,2	K562	blood:
6	chr4:95380200..95382308-chr4:95382568..95385131,2	MCF-7	breast:
7	chr4:95380389..95383633-chr4:95406287..95409209,3	K562	blood:
8	chr4:95381395..95383934-chr4:95510204..95512842,2	K562	blood:

No data

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11097429	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11097430	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11932136	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11932224	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11933735	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935012	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935084	1.00[AMR][1000 genomes]
rs11935947	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11938329	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11938449	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11939756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11940613	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11941259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11941353	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11942920	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11946663	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56827347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58528979	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6845473	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874705	1.00[EUR][1000 genomes]
rs72874730	1.00[EUR][1000 genomes]
rs72874733	1.00[EUR][1000 genomes]
rs72874739	1.00[EUR][1000 genomes]
rs72874745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874752	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874760	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874764	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874769	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874781	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874785	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874786	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874791	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874800	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874802	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72876204	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72876207	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72876211	1.00[EUR][1000 genomes]
rs72876216	1.00[EUR][1000 genomes]
rs72876217	1.00[EUR][1000 genomes]
rs72876219	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72876229	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72876241	1.00[EUR][1000 genomes]
rs72890408	1.00[EUR][1000 genomes]
rs72890416	1.00[EUR][1000 genomes]
rs7673478	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95374200-95387000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:95374200-95388600	Weak transcription	Gastric	stomach
3	chr4:95374200-95389200	Weak transcription	Lung	lung
4	chr4:95374200-95395400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:95374200-95400000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:95374400-95382400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:95374600-95382200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr4:95374600-95388800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:95374800-95381600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:95374800-95385200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:95374800-95398200	Weak transcription	Esophagus	oesophagus
12	chr4:95375000-95387600	Weak transcription	Fetal Stomach	stomach
13	chr4:95375000-95440200	Weak transcription	Primary T cells from cord blood	blood
14	chr4:95375800-95401600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:95376000-95385000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr4:95376600-95392000	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:95377000-95381800	Genic enhancers	HepG2	liver
18	chr4:95377200-95382200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr4:95377800-95382600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:95378000-95383000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:95378200-95383200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr4:95378400-95381800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:95378400-95382600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:95378400-95383600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr4:95378800-95382800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr4:95378800-95383000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr4:95378800-95384200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr4:95378800-95391200	Weak transcription	Placenta	Placenta
29	chr4:95379000-95382200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:95379200-95382800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:95379200-95383000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr4:95379200-95383200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:95379200-95383400	Enhancers	Fetal Intestine Small	intestine
34	chr4:95379200-95383400	Weak transcription	NHDF-Ad	bronchial
35	chr4:95379200-95385000	Weak transcription	NHLF	lung
36	chr4:95379200-95386800	Weak transcription	Pancreas	Pancrea
37	chr4:95379200-95389000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:95379200-95389600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr4:95379200-95391000	Enhancers	Liver	Liver
40	chr4:95379200-95398400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr4:95379600-95383000	Active TSS	Right Ventricle	heart
42	chr4:95379800-95381600	Active TSS	Right Atrium	heart
43	chr4:95379800-95382400	Enhancers	Brain Substantia Nigra	brain
44	chr4:95379800-95383800	Weak transcription	Fetal Kidney	kidney
45	chr4:95379800-95385000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr4:95380200-95382000	Enhancers	Brain Anterior Caudate	brain
47	chr4:95380200-95383000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr4:95380200-95383400	Strong transcription	NHEK	skin
49	chr4:95380200-95383800	Weak transcription	Hela-S3	cervix
50	chr4:95380200-95385000	Weak transcription	Muscle Satellite Cultured Cells	--

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