Variant report

Variant	rs1384138
Chromosome Location	chr4:86596969-86596970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:86591420..86593413-chr4:86595688..86598132,2	K562	blood:
2	chr4:86591944..86594677-chr4:86595648..86598100,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10006148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10012334	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10013681	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10015638	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097065	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1161262	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1161263	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1161264	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12108444	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12640073	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13150577	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1384133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1482087	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1482090	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1564560	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1960869	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1960870	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062099	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2128186	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2128187	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2220007	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2623767	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2623768	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2623769	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2623770	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869362	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869375	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869376	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3971934	1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4453927	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693119	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4693713	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4693714	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693715	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693717	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693721	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693722	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5020451	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6531845	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6531848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6812150	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6813895	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814897	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835362	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6836392	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7442322	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7659481	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7680209	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7685465	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7685535	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695033	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs992553	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9999652	0.93[EUR][1000 genomes];1.00[ASN][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	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv829999	chr4:86500257-86666019	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86589000-86601600	Weak transcription	HSMMtube	muscle
2	chr4:86590000-86604600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr4:86591400-86619400	Weak transcription	Pancreas	Pancrea
4	chr4:86592000-86597600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:86593200-86597400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:86594000-86597800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:86594400-86598400	Weak transcription	Right Atrium	heart
8	chr4:86594400-86601400	Weak transcription	Spleen	Spleen
9	chr4:86594400-86601600	Weak transcription	HSMM	muscle
10	chr4:86594600-86597600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:86594600-86600000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr4:86594800-86597800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:86595000-86597800	Weak transcription	Fetal Heart	heart
14	chr4:86595000-86600000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr4:86595200-86597400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:86595200-86599200	Enhancers	Fetal Muscle Leg	muscle
17	chr4:86595200-86600000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr4:86595400-86598000	Weak transcription	NHDF-Ad	bronchial
19	chr4:86595400-86598800	Enhancers	Fetal Stomach	stomach
20	chr4:86596000-86597200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr4:86596000-86597800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:86596000-86598000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr4:86596200-86597400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr4:86596200-86599200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr4:86596400-86597200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:86596400-86597400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr4:86596400-86597400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr4:86596400-86597600	Strong transcription	Primary B cells from peripheral blood	blood
29	chr4:86596400-86597800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr4:86596400-86598000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr4:86596600-86597000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:86596600-86598200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr4:86596600-86601600	Weak transcription	Brain Hippocampus Middle	brain
34	chr4:86596800-86597000	Enhancers	Left Ventricle	heart
35	chr4:86596800-86597400	Weak transcription	Fetal Brain Male	brain
36	chr4:86596800-86597600	Weak transcription	Primary B cells from cord blood	blood
37	chr4:86596800-86597600	Weak transcription	Brain Substantia Nigra	brain
38	chr4:86596800-86598000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:86596800-86598600	Enhancers	Fetal Lung	lung

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