Variant report

Variant	rs920759
Chromosome Location	chr3:157220720-157220721
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr3:157220424-157221236	MCF-7	breast:	n/a	n/a
2	GATA3	chr3:157220641-157220987	MCF-7	breast:	n/a	n/a
3	GATA3	chr3:157220541-157221365	T-47D	breast:	n/a	n/a
4	GATA2	chr3:157220636-157221165	SH-SY5Y	brain:	n/a	n/a
5	GATA3	chr3:157220582-157221021	SH-SY5Y	brain:	n/a	n/a
6	ESR1	chr3:157220613-157221065	T-47D	breast:	n/a	n/a
7	GATA3	chr3:157220518-157221177	T-47D	breast:	n/a	n/a
8	ESR1	chr3:157220593-157221077	T-47D	breast:	n/a	n/a
9	GATA3	chr3:157220561-157221212	MCF-7	breast:	n/a	n/a
10	JUND	chr3:157220467-157221165	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:156891687..156894320-chr3:157219306..157221888,3	MCF-7	breast:

Variant related genes	Relation type
VEPH1	TF binding region
ENSG00000243176	Chromatin interaction
ENSG00000222675	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11718199	0.96[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap]
rs11923106	0.96[CEU][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12485456	0.92[CEU][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13318762	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1350150	0.92[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1378797	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1378802	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1456093	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1456094	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1456095	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1456112	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1456113	0.96[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1550651	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs1840667	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1988267	0.96[CEU][hapmap];0.80[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2034094	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2316349	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2840046	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4679800	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4680373	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7626974	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7629184	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs973207	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9809137	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs988758	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757900	chr3:157090166-157254684	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759193	chr3:157090166-157254684	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157213200-157221200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:157217400-157222200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:157217800-157221000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:157217800-157235400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:157218000-157220800	Weak transcription	Fetal Brain Female	brain
6	chr3:157218000-157220800	Weak transcription	HSMM	muscle
7	chr3:157218000-157221600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:157218200-157220800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr3:157218200-157220800	Weak transcription	HSMMtube	muscle
10	chr3:157218200-157221000	Weak transcription	Colonic Mucosa	Colon
11	chr3:157218200-157221000	Weak transcription	Pancreas	Pancrea
12	chr3:157218200-157221000	Weak transcription	NH-A	brain
13	chr3:157218200-157221600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr3:157218400-157220800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr3:157218400-157220800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr3:157218400-157220800	Weak transcription	NHLF	lung
17	chr3:157218400-157221000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:157218400-157221000	Weak transcription	Osteobl	bone
19	chr3:157218800-157220800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:157218800-157220800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr3:157218800-157222200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:157219000-157222000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:157219200-157220800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:157219200-157220800	Active TSS	Brain Germinal Matrix	brain
25	chr3:157219200-157221400	Active TSS	Fetal Kidney	kidney
26	chr3:157219400-157221600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr3:157219400-157221600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr3:157219400-157221800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:157219600-157221000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:157219600-157221000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:157219600-157221400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:157219800-157220800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:157219800-157221600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:157220000-157221000	Weak transcription	Fetal Lung	lung
35	chr3:157220000-157221200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr3:157220000-157221400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr3:157220000-157222200	Weak transcription	HUVEC	blood vessel
38	chr3:157220200-157220800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr3:157220600-157221400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr3:157220600-157222000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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