Variant report

Variant	rs16925936
Chromosome Location	chr11:34652336-34652337
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	chr11:34651951-34652559	ECC-1	luminal epithelium:	n/a	n/a
2	NR3C1	chr11:34652269-34652426	A549	lung:	n/a	chr11:34652364-34652380 chr11:34652365-34652379 chr11:34652365-34652379 chr11:34652361-34652382 chr11:34652365-34652379 chr11:34652364-34652380 chr11:34652364-34652380
3	TCF12	chr11:34652005-34652580	ECC-1	luminal epithelium:	n/a	n/a
4	ESR1	chr11:34651879-34652548	ECC-1	luminal epithelium:	n/a	chr11:34652146-34652163
5	NFIC	chr11:34651932-34652581	ECC-1	luminal epithelium:	n/a	n/a
6	ESR1	chr11:34651898-34652542	ECC-1	luminal epithelium:	n/a	chr11:34652146-34652163
7	EP300	chr11:34651846-34652609	ECC-1	luminal epithelium:	n/a	n/a
8	TEAD4	chr11:34651998-34652564	ECC-1	luminal epithelium:	n/a	n/a
9	FOXA1	chr11:34652065-34652363	T-47D	breast:	n/a	n/a
10	NR3C1	chr11:34652013-34652525	ECC-1	luminal epithelium:	n/a	chr11:34652364-34652380 chr11:34652365-34652379 chr11:34652365-34652379 chr11:34652361-34652382 chr11:34652365-34652379 chr11:34652364-34652380 chr11:34652364-34652380
11	NR3C1	chr11:34652088-34652511	A549	lung:	n/a	chr11:34652364-34652380 chr11:34652365-34652379 chr11:34652365-34652379 chr11:34652361-34652382 chr11:34652365-34652379 chr11:34652364-34652380 chr11:34652364-34652380
12	FOXA1	chr11:34652060-34652340	ECC-1	luminal epithelium:	n/a	n/a
13	ESR1	chr11:34651963-34652508	ECC-1	luminal epithelium:	n/a	chr11:34652146-34652163
14	ESR1	chr11:34651955-34652482	ECC-1	luminal epithelium:	n/a	chr11:34652146-34652163
15	TEAD4	chr11:34651939-34652551	ECC-1	luminal epithelium:	n/a	n/a
16	NR3C1	chr11:34652039-34652522	A549	lung:	n/a	chr11:34652364-34652380 chr11:34652365-34652379 chr11:34652365-34652379 chr11:34652361-34652382 chr11:34652365-34652379 chr11:34652364-34652380 chr11:34652364-34652380
17	NR3C1	chr11:34652008-34652524	ECC-1	luminal epithelium:	n/a	chr11:34652364-34652380 chr11:34652365-34652379 chr11:34652365-34652379 chr11:34652361-34652382 chr11:34652365-34652379 chr11:34652364-34652380 chr11:34652364-34652380
18	FOXA1	chr11:34652135-34652344	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34645328..34647073-chr11:34651781..34653542,2	K562	blood:
2	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]
rs16925912	0.83[YRI][hapmap];1.00[AFR][1000 genomes]
rs16925918	0.91[YRI][hapmap];0.80[AFR][1000 genomes]
rs16925992	1.00[AMR][1000 genomes]
rs56760258	1.00[AMR][1000 genomes]
rs73446805	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446821	1.00[AFR][1000 genomes];1.00[AMR][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:37 , 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	chr11:34647000-34653000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr11:34647200-34652800	Enhancers	Stomach Mucosa	stomach
6	chr11:34647200-34657200	Weak transcription	Gastric	stomach
7	chr11:34647800-34653200	Weak transcription	HepG2	liver
8	chr11:34649200-34653000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:34649600-34653000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:34649600-34653400	Weak transcription	HMEC	breast
11	chr11:34650200-34653400	Enhancers	Brain Substantia Nigra	brain
12	chr11:34650600-34653000	Enhancers	Pancreas	Pancrea
13	chr11:34650600-34653000	Enhancers	NHEK	skin
14	chr11:34650600-34653400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:34650800-34652800	Enhancers	A549	lung
16	chr11:34651000-34653000	Enhancers	Duodenum Mucosa	Duodenum
17	chr11:34651000-34653400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:34651200-34652600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:34651400-34652400	Weak transcription	Colonic Mucosa	Colon
20	chr11:34651400-34653000	Weak transcription	Brain Anterior Caudate	brain
21	chr11:34651600-34652400	Enhancers	Fetal Kidney	kidney
22	chr11:34651600-34652600	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr11:34651600-34653000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:34651600-34653000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr11:34651600-34654600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:34651600-34655400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:34651800-34653000	Weak transcription	Fetal Intestine Small	intestine
28	chr11:34651800-34653800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:34651800-34654000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:34651800-34655000	Weak transcription	Fetal Intestine Large	intestine
31	chr11:34652000-34653000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr11:34652000-34656200	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr11:34652000-34661200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:34652200-34652600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:34652200-34652600	Weak transcription	Brain Hippocampus Middle	brain
36	chr11:34652200-34654000	Enhancers	Hela-S3	cervix
37	chr11:34652200-34654400	Active TSS	Esophagus	oesophagus

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