Variant report

Variant	rs4757466
Chromosome Location	chr11:17001235-17001236
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr11:17001227-17001540	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:16996104..16998642-chr11:17000336..17002866,2	MCF-7	breast:
2	chr11:16997842..17006545-chr11:17033236..17037894,15	MCF-7	breast:
3	chr11:16976871..16981000-chr11:17000472..17004649,3	MCF-7	breast:
4	chr11:16999432..17001553-chr11:17034557..17036317,2	MCF-7	breast:
5	chr11:17000932..17002613-chr11:17006244..17008801,2	MCF-7	breast:
6	chr11:17001158..17002669-chr11:17097595..17099933,2	K562	blood:
7	chr11:17000031..17001967-chr11:17030020..17032761,3	MCF-7	breast:
8	chr11:16999245..17001608-chr11:17002120..17006650,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000244398	TF binding region
ENSG00000184669	Chromatin interaction
ENSG00000244398	Chromatin interaction
ENSG00000166689	Chromatin interaction
ENSG00000110700	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10741719	1.00[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs10741720	1.00[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs10766370	0.82[CHB][hapmap]
rs10832713	0.84[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs10832721	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12418132	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12808675	0.89[EUR][1000 genomes]
rs1468489	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34437677	0.83[EUR][1000 genomes]
rs4351794	1.00[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs4756881	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756882	0.87[ASN][1000 genomes]
rs4757467	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4757479	0.87[EUR][1000 genomes]
rs4757482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4757484	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.87[ASN][1000 genomes]
rs4757487	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4757489	1.00[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs4757490	1.00[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs61881287	0.87[EUR][1000 genomes]
rs6486332	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486335	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs6486341	1.00[JPT][hapmap]
rs7101679	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7481059	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7928955	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7930890	0.83[ASN][1000 genomes]
rs7931025	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7933984	1.00[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs7937479	0.89[EUR][1000 genomes]
rs7940499	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7947297	1.00[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs973323	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs992698	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16981800-17002800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:16982200-17003800	Weak transcription	Right Ventricle	heart
3	chr11:16991400-17002800	Weak transcription	Right Atrium	heart
4	chr11:16992200-17007400	Weak transcription	Colonic Mucosa	Colon
5	chr11:16997400-17002000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr11:16997600-17003000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:16997600-17003200	Enhancers	Brain Anterior Caudate	brain
8	chr11:16997600-17004600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:16998000-17002200	Enhancers	Gastric	stomach
10	chr11:16998000-17005000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:16998000-17009000	Enhancers	Stomach Mucosa	stomach
12	chr11:16998000-17011800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:16998200-17001400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:16998200-17001400	Weak transcription	Lung	lung
15	chr11:16998200-17003200	Weak transcription	Aorta	Aorta
16	chr11:16998600-17001400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:16998600-17004200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:16998800-17002800	Weak transcription	Fetal Brain Male	brain
19	chr11:16998800-17007800	Genic enhancers	Fetal Intestine Small	intestine
20	chr11:16999000-17003000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:16999200-17002200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr11:16999400-17002800	Weak transcription	Esophagus	oesophagus
23	chr11:16999600-17003000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:16999800-17002600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:17000000-17001400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:17000000-17001400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr11:17000000-17001400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr11:17000000-17001400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:17000000-17002800	Weak transcription	Brain Germinal Matrix	brain
30	chr11:17000000-17002800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:17000400-17001400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:17000400-17001400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:17000400-17001400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:17000400-17001400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:17000400-17001600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:17000600-17001400	Weak transcription	Brain Angular Gyrus	brain
37	chr11:17000600-17001600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr11:17000600-17004600	Enhancers	Fetal Intestine Large	intestine
39	chr11:17000600-17011800	Enhancers	Pancreas	Pancrea
40	chr11:17000800-17003000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr11:17000800-17006200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:17001000-17001600	Enhancers	Fetal Kidney	kidney
43	chr11:17001000-17001800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr11:17001000-17001800	Enhancers	Fetal Lung	lung
45	chr11:17001000-17003000	Enhancers	HepG2	liver
46	chr11:17001200-17001400	Enhancers	HSMMtube	muscle
47	chr11:17001200-17001600	Enhancers	Brain Substantia Nigra	brain
48	chr11:17001200-17001800	Enhancers	Liver	Liver
49	chr11:17001200-17002600	Enhancers	Duodenum Mucosa	Duodenum
50	chr11:17001200-17003400	Enhancers	Brain Hippocampus Middle	brain

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