Variant report

Variant	rs286925
Chromosome Location	chr11:34642668-34642669
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	POLR2A	chr11:34642352-34642821	MCF10A-Er-Src	breast:	n/a	n/a
2	E2F4	chr11:34642424-34642687	MCF10A-Er-Src	breast:	n/a	chr11:34642533-34642542
3	EP300	chr11:34642218-34642764	T-47D	breast:	n/a	n/a
4	GATA3	chr11:34642155-34643330	T-47D	breast:	n/a	chr11:34642891-34642901
5	POLR2A	chr11:34642485-34642748	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr11:34642493-34642672	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34641972..34644254-chr11:34644762..34647514,2	MCF-7	breast:

Variant related genes	Relation type
EHF	TF binding region
ENSG00000135373	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs286919	0.91[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs286921	0.91[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs286926	0.91[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832116	chr11:34539536-34673900	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv832117	chr11:34639008-34831199	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1045130	chr11:34641598-34777725	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1052192	chr11:34641598-34781288	ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1051492	chr11:34641598-34789331	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv1052008	chr11:34641598-34794024	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv467788	chr11:34642493-34770494	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv553998	chr11:34642493-34770494	Enhancers Strong transcription Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv518807	chr11:34642493-34780936	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv519718	chr11:34642493-34780936	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	nsv467789	chr11:34642493-34780936	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv467790	chr11:34642493-34780936	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv553999	chr11:34642493-34780936	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34608400-34643600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:34625400-34642800	Weak transcription	Gastric	stomach
3	chr11:34634000-34643200	Weak transcription	Lung	lung
4	chr11:34635000-34643400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:34636200-34644000	Enhancers	K562	blood
6	chr11:34637800-34649200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:34639800-34653800	Weak transcription	Right Atrium	heart
8	chr11:34640000-34643200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:34640400-34643200	Enhancers	Placenta	Placenta
10	chr11:34641000-34642800	Enhancers	Fetal Intestine Small	intestine
11	chr11:34641000-34643400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr11:34641800-34642800	Enhancers	Fetal Intestine Large	intestine
13	chr11:34641800-34644400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:34642000-34646800	Active TSS	Esophagus	oesophagus
15	chr11:34642000-34647200	Active TSS	Rectal Smooth Muscle	rectum
16	chr11:34642200-34642800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:34642200-34643200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr11:34642200-34643600	Active TSS	Pancreas	Pancrea
19	chr11:34642200-34646600	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr11:34642200-34646800	Active TSS	Small Intestine	intestine
21	chr11:34642400-34642800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr11:34642400-34643400	Active TSS	NHEK	skin
23	chr11:34642400-34644400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:34642400-34644600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:34642400-34645400	Active TSS	Colonic Mucosa	Colon
26	chr11:34642400-34645400	Active TSS	Duodenum Mucosa	Duodenum
27	chr11:34642400-34646200	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr11:34642400-34646600	Active TSS	Stomach Mucosa	stomach
29	chr11:34642600-34644000	Active TSS	Fetal Kidney	kidney
30	chr11:34642600-34644200	Active TSS	Fetal Stomach	stomach
31	chr11:34642600-34644200	Flanking Active TSS	HMEC	breast

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