Variant report

Variant	rs11933502
Chromosome Location	chr4:144386841-144386842
allele	C/G
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	STAT3	chr4:144386696-144386896	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
GAB1	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11725272	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11936966	0.81[EUR][1000 genomes]
rs11945261	0.86[EUR][1000 genomes]
rs12512923	0.82[EUR][1000 genomes]
rs13112122	0.81[EUR][1000 genomes]
rs13112412	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13114896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13128753	0.81[EUR][1000 genomes]
rs1397529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1397530	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17017801	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28776014	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28924075	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28925907	0.82[EUR][1000 genomes]
rs28925924	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28925926	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28925939	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35152330	0.86[EUR][1000 genomes]
rs3795246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4690785	0.81[CEU][hapmap]
rs59727559	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6833624	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6837464	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7696619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7698825	0.88[CEU][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9684453	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9685389	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[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	esv2757960	chr4:144348293-145131592	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	esv2759288	chr4:144348293-145131592	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1019980	chr4:144350575-144399936	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144327800-144388200	Weak transcription	HepG2	liver
2	chr4:144336400-144392200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:144339400-144394600	Weak transcription	Colonic Mucosa	Colon
4	chr4:144353200-144398600	Weak transcription	Brain Germinal Matrix	brain
5	chr4:144353600-144400000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:144355600-144388200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr4:144358200-144387000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:144360000-144388400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:144360200-144387200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:144360200-144399000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:144361600-144390400	Weak transcription	K562	blood
12	chr4:144363200-144395400	Weak transcription	Spleen	Spleen
13	chr4:144363200-144398600	Weak transcription	Lung	lung
14	chr4:144365600-144398400	Weak transcription	NHLF	lung
15	chr4:144366200-144394400	Weak transcription	Psoas Muscle	Psoas
16	chr4:144373200-144399000	Weak transcription	Fetal Brain Male	brain
17	chr4:144375000-144390400	Weak transcription	Stomach Mucosa	stomach
18	chr4:144376000-144391400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:144376000-144392800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:144376000-144398400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:144376400-144390200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr4:144376600-144392000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:144376800-144391200	Weak transcription	NH-A	brain
24	chr4:144376800-144410000	Weak transcription	Pancreas	Pancrea
25	chr4:144377000-144390400	Weak transcription	Fetal Heart	heart
26	chr4:144377200-144397400	Weak transcription	NHDF-Ad	bronchial
27	chr4:144377400-144388200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr4:144378600-144393200	Weak transcription	Osteobl	bone
29	chr4:144378800-144390200	Weak transcription	HMEC	breast
30	chr4:144379400-144399000	Weak transcription	HSMMtube	muscle
31	chr4:144380000-144391800	Weak transcription	NHEK	skin
32	chr4:144380000-144392200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:144380200-144392000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr4:144380200-144392000	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr4:144380400-144392400	Strong transcription	Fetal Intestine Large	intestine
36	chr4:144380600-144389200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:144380600-144391800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:144380600-144391800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:144380600-144393600	Strong transcription	Placenta	Placenta
40	chr4:144381000-144387200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr4:144381000-144392000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:144381400-144392000	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr4:144382200-144392000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr4:144382800-144390000	Weak transcription	Colon Smooth Muscle	Colon
45	chr4:144382800-144391000	Weak transcription	Fetal Kidney	kidney
46	chr4:144382800-144396200	Weak transcription	Small Intestine	intestine
47	chr4:144382800-144400600	Weak transcription	Esophagus	oesophagus
48	chr4:144382800-144410200	Weak transcription	Gastric	stomach
49	chr4:144383000-144387000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr4:144383000-144387200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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