Variant report

Variant	rs17134125
Chromosome Location	chr11:75293809-75293810
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	JUN	chr11:75293516-75294030	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr11:75293669-75295350	PFSK-1	brain:	n/a	n/a
3	CTCF	chr11:75293780-75293930	GM12867	blood:	n/a	n/a
4	POLR2A	chr11:75293476-75295234	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr11:75293740-75293890	HFF	foreskin:	n/a	n/a
6	POLR2A	chr11:75293799-75295419	PBDE	blood:	n/a	n/a
7	POLR2A	chr11:75293680-75295179	GM12892	blood:	n/a	n/a
8	REST	chr11:75293715-75295507	H1-neurons	neurons:	n/a	chr11:75294483-75294493
9	POLR2A	chr11:75293547-75295533	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr11:75293807-75295555	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr11:75293578-75295273	SK-N-SH	brain:	n/a	chr11:75294914-75294927
12	STAT3	chr11:75293646-75293846	MCF10A-Er-Src	breast:	n/a	n/a
13	MAZ	chr11:75293573-75295763	IMR90	lung:	n/a	chr11:75294979-75294989 chr11:75294480-75294490
14	MTA3	chr11:75293662-75294363	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:75293473-75295419	HUVEC	blood vessel:	n/a	n/a
16	MTA3	chr11:75293726-75294272	GM12878	blood:	n/a	n/a
17	GATA2	chr11:75293384-75293999	HUVEC	blood vessel:	n/a	chr11:75293576-75293584 chr11:75293675-75293689
18	POLR2A	chr11:75293472-75295476	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr11:75293708-75294563	A549	lung:	n/a	n/a
20	POLR2A	chr11:75293217-75295285	IMR90	lung:	n/a	n/a
21	POLR2A	chr11:75293782-75294805	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:75293288-75295768	HUVEC	blood vessel:	n/a	n/a
23	FOS	chr11:75293427-75294445	HUVEC	blood vessel:	n/a	chr11:75294138-75294147 chr11:75293712-75293723
24	STAT3	chr11:75293570-75293914	MCF10A-Er-Src	breast:	n/a	chr11:75293588-75293600
25	STAT3	chr11:75293587-75293881	MCF10A-Er-Src	breast:	n/a	chr11:75293588-75293600
26	POLR2A	chr11:75293366-75295345	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr11:75293800-75293950	RPTEC	kidney:	n/a	n/a
28	PML	chr11:75293604-75294757	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75279889..75285292-chr11:75289695..75295814,8	K562	blood:

Variant related genes	Relation type
ENSG00000255326	TF binding region
ENSG00000149257	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11821219	1.00[EUR][1000 genomes]
rs12287188	1.00[EUR][1000 genomes]
rs57096650	1.00[EUR][1000 genomes]
rs636418	0.81[YRI][hapmap]
rs73504507	1.00[EUR][1000 genomes]
rs7924333	1.00[EUR][1000 genomes]
rs7940603	1.00[EUR][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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75284600-75294000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:75285000-75294000	Weak transcription	Aorta	Aorta
3	chr11:75285000-75294000	Weak transcription	HMEC	breast
4	chr11:75285600-75294000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:75286000-75294000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:75287800-75294000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:75288000-75294000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:75291800-75294000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:75292600-75294000	Enhancers	Fetal Muscle Leg	muscle
10	chr11:75293200-75294000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:75293200-75294000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:75293200-75294000	Enhancers	Left Ventricle	heart
13	chr11:75293200-75294000	Enhancers	Psoas Muscle	Psoas
14	chr11:75293200-75294000	Enhancers	Right Atrium	heart
15	chr11:75293200-75294000	Enhancers	Right Ventricle	heart
16	chr11:75293200-75294000	Enhancers	Spleen	Spleen
17	chr11:75293400-75294000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:75293400-75294000	Enhancers	Liver	Liver
19	chr11:75293400-75294000	Enhancers	Esophagus	oesophagus
20	chr11:75293400-75294000	Enhancers	Fetal Stomach	stomach
21	chr11:75293400-75294000	Enhancers	Pancreas	Pancrea
22	chr11:75293400-75294000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr11:75293600-75294000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr11:75293600-75294000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:75293600-75294000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:75293600-75294200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr11:75293600-75294200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:75293600-75294200	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr11:75293600-75294200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr11:75293600-75294200	Flanking Active TSS	GM12878-XiMat	blood
31	chr11:75293600-75294200	Flanking Active TSS	Osteobl	bone
32	chr11:75293600-75294400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:75293600-75294400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr11:75293600-75294400	Flanking Active TSS	HUVEC	blood vessel
35	chr11:75293600-75294400	Flanking Active TSS	NH-A	brain
36	chr11:75293600-75295800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:75293600-75295800	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr11:75293800-75294000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:75293800-75294000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
40	chr11:75293800-75294000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr11:75293800-75294000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:75293800-75294000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:75293800-75294000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:75293800-75294000	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr11:75293800-75294000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr11:75293800-75294000	Flanking Active TSS	Fetal Kidney	kidney
47	chr11:75293800-75294000	Enhancers	Gastric	stomach
48	chr11:75293800-75294000	Weak transcription	Lung	lung
49	chr11:75293800-75294000	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr11:75293800-75294000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle

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