Variant report

Variant	rs34227282
Chromosome Location	chr4:87932645-87932646
allele	C/T
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	chr4:87925144..87930778-chr4:87931161..87934688,7	MCF-7	breast:
2	chr4:87845889..87863516-chr4:87925389..87935181,79	K562	blood:
3	chr4:87931438..87933105-chr4:87978302..87980723,2	K562	blood:
4	chr12:57480398..57483000-chr4:87931079..87932679,2	MCF-7	breast:
5	chr4:87929301..87933851-chr4:88000404..88005339,4	K562	blood:
6	chr4:87854689..87857093-chr4:87930959..87933070,3	MCF-7	breast:
7	chr4:87897075..87899882-chr4:87931733..87933801,2	K562	blood:
8	chr4:87853595..87871697-chr4:87924007..87941983,77	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235043	Chromatin interaction
ENSG00000172493	Chromatin interaction
ENSG00000166886	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000163633	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10489044	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10516787	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13109968	1.00[AFR][1000 genomes]
rs13110344	1.00[AFR][1000 genomes]
rs13136338	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13136465	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13140610	0.83[AFR][1000 genomes]
rs17702203	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs33983129	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34140562	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34709431	1.00[AFR][1000 genomes]
rs34745873	1.00[AFR][1000 genomes]
rs35182728	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35245331	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35653846	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35812445	1.00[AFR][1000 genomes]
rs35849753	0.83[AFR][1000 genomes]
rs35886751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41525049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs431836	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62305658	1.00[AFR][1000 genomes]
rs62306466	1.00[AFR][1000 genomes]
rs62306480	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62306505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62306508	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62306509	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62306510	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62306511	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62306514	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6853425	0.83[AFR][1000 genomes]
rs767314	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87929200-87934200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:87929200-87939400	Weak transcription	Gastric	stomach
3	chr4:87929400-87946200	Weak transcription	Esophagus	oesophagus
4	chr4:87929600-87933200	Enhancers	Brain Substantia Nigra	brain
5	chr4:87929600-87934000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:87929600-87935000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr4:87929600-87935400	Weak transcription	HSMM	muscle
8	chr4:87929600-87937000	Enhancers	Fetal Heart	heart
9	chr4:87929600-87938000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr4:87929600-87938800	Weak transcription	HSMMtube	muscle
11	chr4:87929800-87933600	Enhancers	HepG2	liver
12	chr4:87929800-87936600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr4:87929800-87937000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:87930200-87932800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr4:87930200-87933000	Enhancers	Small Intestine	intestine
16	chr4:87930200-87933400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:87930600-87934000	Enhancers	Fetal Intestine Small	intestine
18	chr4:87930600-87934400	Weak transcription	Pancreas	Pancrea
19	chr4:87930600-87934600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:87930600-87937000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:87930600-87940600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:87930600-87946800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:87930600-87950000	Weak transcription	Fetal Stomach	stomach
24	chr4:87930800-87933800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr4:87930800-87934000	Enhancers	Fetal Intestine Large	intestine
26	chr4:87930800-87934200	Weak transcription	Lung	lung
27	chr4:87930800-87934800	Weak transcription	Right Atrium	heart
28	chr4:87930800-87935400	Enhancers	Adipose Nuclei	Adipose
29	chr4:87930800-87935600	Enhancers	Primary B cells from peripheral blood	blood
30	chr4:87930800-87940600	Weak transcription	Spleen	Spleen
31	chr4:87931000-87932800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr4:87931000-87933400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:87931000-87934400	Enhancers	Duodenum Mucosa	Duodenum
34	chr4:87931000-87934800	Enhancers	Dnd41	blood
35	chr4:87931000-87935200	Enhancers	HUVEC	blood vessel
36	chr4:87931000-87935400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr4:87931000-87936800	Enhancers	Primary T cells from cord blood	blood
38	chr4:87931000-87936800	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr4:87931000-87937200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr4:87931000-87940800	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr4:87931000-87940800	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr4:87931000-87946600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:87931200-87932800	Enhancers	Liver	Liver
44	chr4:87931200-87935000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:87931200-87937200	Enhancers	Colon Smooth Muscle	Colon
46	chr4:87931200-87940400	Enhancers	Primary B cells from cord blood	blood
47	chr4:87931200-87943400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr4:87931400-87934800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:87931600-87932800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr4:87931600-87932800	Enhancers	Placenta	Placenta

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