Variant report

Variant	rs7694940
Chromosome Location	chr4:53881008-53881009
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:53875960..53878949-chr4:53880852..53883241,2	MCF-7	breast:
2	chr4:53875015..53876837-chr4:53878881..53881020,2	K562	blood:
3	chr4:53872595..53874436-chr4:53878591..53881350,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10013152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10024057	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10026738	0.89[YRI][hapmap]
rs10033650	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11941906	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13340297	1.00[CEU][hapmap]
rs1384696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17082301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17082330	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2062185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2062186	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2411290	0.86[YRI][hapmap]
rs28404612	0.81[ASN][1000 genomes]
rs28507473	0.97[ASN][1000 genomes]
rs28592856	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28652757	0.93[ASN][1000 genomes]
rs28688668	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28713187	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28882784	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3912335	1.00[ASN][1000 genomes]
rs4419529	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4864712	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4864713	1.00[ASN][1000 genomes]
rs4864714	1.00[ASN][1000 genomes]
rs4864715	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs56259272	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6554065	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs6822707	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6825075	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6855010	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73250923	0.86[EUR][1000 genomes]
rs7658716	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs7671836	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7673017	1.00[ASN][1000 genomes]
rs7674291	0.87[YRI][hapmap]
rs7698034	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9312635	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9790561	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs9999433	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv508280	chr4:53825060-53907661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53873400-53886800	Weak transcription	Left Ventricle	heart
2	chr4:53874000-53882200	Enhancers	Fetal Kidney	kidney
3	chr4:53874600-53885000	Weak transcription	Spleen	Spleen
4	chr4:53875600-53881400	Weak transcription	HepG2	liver
5	chr4:53875800-53882200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr4:53876000-53885800	Weak transcription	Small Intestine	intestine
7	chr4:53876200-53883000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:53876400-53882600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:53876800-53884600	Weak transcription	Liver	Liver
10	chr4:53877600-53881600	Enhancers	Fetal Muscle Leg	muscle
11	chr4:53877600-53881800	Enhancers	Fetal Intestine Large	intestine
12	chr4:53878200-53881800	Enhancers	Fetal Intestine Small	intestine
13	chr4:53878400-53882800	Enhancers	NHLF	lung
14	chr4:53878400-53888000	Weak transcription	Right Atrium	heart
15	chr4:53878800-53886200	Weak transcription	Psoas Muscle	Psoas
16	chr4:53879200-53883000	Enhancers	Osteobl	bone
17	chr4:53879200-53885000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:53879200-53885800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:53879400-53881400	Weak transcription	HSMM	muscle
20	chr4:53879400-53881800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr4:53879400-53882200	Weak transcription	HSMMtube	muscle
22	chr4:53879400-53882400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:53879400-53882400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:53879400-53882600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:53879400-53882600	Enhancers	NHDF-Ad	bronchial
26	chr4:53879400-53882800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:53879400-53885600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:53879400-53887800	Weak transcription	Fetal Heart	heart
29	chr4:53879400-53888400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:53879400-53889600	Weak transcription	Aorta	Aorta
31	chr4:53879600-53882200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:53879600-53885800	Weak transcription	HUVEC	blood vessel
33	chr4:53879600-53887600	Weak transcription	Colon Smooth Muscle	Colon
34	chr4:53879800-53881600	Weak transcription	Fetal Lung	lung
35	chr4:53879800-53882200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:53879800-53888600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:53879800-53890000	Weak transcription	GM12878-XiMat	blood
38	chr4:53880000-53881600	Enhancers	Ovary	ovary
39	chr4:53880000-53882200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:53880000-53882200	Enhancers	NH-A	brain
41	chr4:53880200-53882200	Weak transcription	Fetal Stomach	stomach
42	chr4:53880400-53881800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:53880400-53882600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:53880400-53883000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr4:53880400-53885800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:53880400-53886000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:53880400-53891800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:53880600-53883000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:53880600-53888000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr4:53880800-53883800	Weak transcription	Pancreas	Pancrea

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