Variant report

Variant	rs286914
Chromosome Location	chr11:34653124-34653125
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	EP300	chr11:34653109-34654756	ECC-1	luminal epithelium:	n/a	n/a
2	SIN3AK20	chr11:34653007-34654129	MCF-7	breast:	n/a	n/a
3	ESR1	chr11:34652756-34654409	T-47D	breast:	n/a	n/a
4	GATA3	chr11:34652835-34654451	MCF-7	breast:	n/a	chr11:34653875-34653884
5	ESR1	chr11:34652776-34654170	T-47D	breast:	n/a	n/a
6	NR2F2	chr11:34653121-34654140	MCF-7	breast:	n/a	n/a
7	JUND	chr11:34652669-34654571	T-47D	breast:	n/a	chr11:34652922-34652933
8	GATA3	chr11:34653047-34653968	MCF-7	breast:	n/a	chr11:34653875-34653884
9	ESR1	chr11:34652748-34654706	T-47D	breast:	n/a	n/a
10	EP300	chr11:34652909-34654444	T-47D	breast:	n/a	n/a
11	POLR2A	chr11:34652960-34653430	HCT-116	colon:	n/a	n/a
12	JUND	chr11:34652886-34654534	T-47D	breast:	n/a	chr11:34652922-34652933
13	NR2F2	chr11:34653078-34654164	MCF-7	breast:	n/a	n/a
14	MAX	chr11:34652947-34654550	ECC-1	luminal epithelium:	n/a	chr11:34653015-34653028 chr11:34653017-34653026
15	FOXA1	chr11:34653089-34654475	T-47D	breast:	n/a	chr11:34653746-34653758
16	EP300	chr11:34652740-34654641	T-47D	breast:	n/a	n/a
17	GATA3	chr11:34652768-34654500	T-47D	breast:	n/a	chr11:34653875-34653884
18	GATA3	chr11:34652810-34654757	T-47D	breast:	n/a	chr11:34653875-34653884
19	ESR1	chr11:34652815-34654694	T-47D	breast:	n/a	n/a
20	FOXA1	chr11:34653110-34654473	T-47D	breast:	n/a	chr11:34653746-34653758
21	GATA3	chr11:34652987-34654267	MCF-7	breast:	n/a	chr11:34653875-34653884
22	ESR1	chr11:34652766-34654488	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:34645328..34647073-chr11:34651781..34653542,2	K562	blood:
2	chr11:34652609..34656733-chr11:34661493..34664204,6	MCF-7	breast:
3	chr11:34645573..34647366-chr11:34652042..34653637,2	K562	blood:

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

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10768085	0.80[EUR][1000 genomes]
rs286911	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs286912	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs286920	0.89[EUR][1000 genomes]
rs286927	0.89[EUR][1000 genomes]
rs443816	0.86[CEU][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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
14	nsv554000	chr11:34643780-34780936	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv869812	chr11:34648088-34810956	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS 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

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34639800-34653800	Weak transcription	Right Atrium	heart
2	chr11:34646200-34653400	Weak transcription	HSMMtube	muscle
3	chr11:34646600-34656000	Weak transcription	Lung	lung
4	chr11:34647200-34657200	Weak transcription	Gastric	stomach
5	chr11:34647800-34653200	Weak transcription	HepG2	liver
6	chr11:34649600-34653400	Weak transcription	HMEC	breast
7	chr11:34650200-34653400	Enhancers	Brain Substantia Nigra	brain
8	chr11:34650600-34653400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:34651000-34653400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:34651600-34654600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:34651600-34655400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:34651800-34653800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:34651800-34654000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:34651800-34655000	Weak transcription	Fetal Intestine Large	intestine
15	chr11:34652000-34656200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr11:34652000-34661200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:34652200-34654000	Enhancers	Hela-S3	cervix
18	chr11:34652200-34654400	Active TSS	Esophagus	oesophagus
19	chr11:34652600-34653200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:34652600-34653400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:34652600-34653400	Enhancers	Brain Hippocampus Middle	brain
22	chr11:34652800-34653200	Weak transcription	A549	lung
23	chr11:34652800-34653400	Flanking Active TSS	Stomach Mucosa	stomach
24	chr11:34652800-34653600	Flanking Active TSS	Liver	Liver
25	chr11:34652800-34653600	Enhancers	Fetal Kidney	kidney
26	chr11:34652800-34654600	Enhancers	Brain Germinal Matrix	brain
27	chr11:34653000-34653200	Enhancers	Brain Anterior Caudate	brain
28	chr11:34653000-34653200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:34653000-34653200	Flanking Active TSS	Colonic Mucosa	Colon
30	chr11:34653000-34653200	Active TSS	Rectal Smooth Muscle	rectum
31	chr11:34653000-34653400	Enhancers	Brain Cingulate Gyrus	brain
32	chr11:34653000-34653400	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr11:34653000-34653400	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr11:34653000-34653400	Flanking Active TSS	Pancreas	Pancrea
35	chr11:34653000-34653400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr11:34653000-34653800	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr11:34653000-34653800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr11:34653000-34654000	Enhancers	Brain Angular Gyrus	brain
39	chr11:34653000-34654200	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr11:34653000-34654400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:34653000-34654400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:34653000-34654800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:34653000-34654800	Flanking Active TSS	NHEK	skin
44	chr11:34653000-34656200	Enhancers	Placenta	Placenta
45	chr11:34653000-34656600	Enhancers	Osteobl	bone
46	chr11:34653000-34656800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr11:34653000-34658400	Enhancers	Fetal Intestine Small	intestine

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