Variant report

Variant	rs1344140
Chromosome Location	chr4:147364052-147364053
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	chr4:147364033..147364846-chr9:111458384..111458949,2	MCF-7	breast:
2	chr4:147362840..147364898-chr4:147369534..147371041,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11733337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11735134	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11736228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11737379	0.87[AFR][1000 genomes]
rs11933994	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11944523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17021532	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28605564	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3849036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4401467	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4835038	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56105621	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56305627	0.95[AFR][1000 genomes]
rs57910109	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663212	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv917053	chr4:147265436-147499653	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023868	chr4:147265443-147531626	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537293	chr4:147265443-147531626	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv428453	chr4:147335953-147457115	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147346200-147371400	Weak transcription	Primary B cells from cord blood	blood
2	chr4:147353800-147371000	Weak transcription	GM12878-XiMat	blood
3	chr4:147358000-147364400	Weak transcription	NHLF	lung
4	chr4:147358400-147366800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:147359800-147370200	Weak transcription	Aorta	Aorta
6	chr4:147360400-147366400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr4:147360600-147371600	Weak transcription	Primary T cells from cord blood	blood
8	chr4:147361000-147366600	Weak transcription	Adipose Nuclei	Adipose
9	chr4:147361600-147366400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:147361600-147366600	Weak transcription	Left Ventricle	heart
11	chr4:147362200-147366600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:147362600-147365200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:147363200-147366400	Weak transcription	Fetal Stomach	stomach
14	chr4:147363400-147364200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:147363400-147365200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:147363600-147364200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr4:147363600-147364600	Enhancers	Osteobl	bone
18	chr4:147363600-147364800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr4:147363600-147364800	Enhancers	NHDF-Ad	bronchial
20	chr4:147363600-147365000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:147363800-147364200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr4:147363800-147364200	Enhancers	HSMM	muscle
23	chr4:147363800-147364400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:147363800-147364400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr4:147363800-147364600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:147363800-147364600	Enhancers	NH-A	brain
27	chr4:147363800-147364600	Enhancers	NHEK	skin
28	chr4:147363800-147364800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:147363800-147365400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr4:147364000-147364600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:147364000-147365200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:147364000-147374400	Weak transcription	Colon Smooth Muscle	Colon

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