Variant report

Variant	rs16925918
Chromosome Location	chr11:34645697-34645698
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	EBF1	chr11:34645641-34645987	GM12878	blood:	n/a	n/a
2	PAX5	chr11:34645679-34645981	GM12878	blood:	n/a	n/a
3	GATA3	chr11:34645640-34645996	T-47D	breast:	n/a	n/a
4	BATF	chr11:34645527-34645908	GM12878	blood:	n/a	n/a
5	RUNX3	chr11:34645403-34646063	GM12878	blood:	n/a	chr11:34645615-34645624 chr11:34645615-34645624
6	TBL1XR1	chr11:34645642-34645979	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:34645492-34646048	HCT-116	colon:	n/a	n/a
8	MTA3	chr11:34644835-34645978	GM12878	blood:	n/a	n/a
9	RUNX3	chr11:34645454-34646076	GM12878	blood:	n/a	chr11:34645615-34645624 chr11:34645615-34645624
10	FOXA1	chr11:34645675-34645915	T-47D	breast:	n/a	n/a
11	BCL3	chr11:34645608-34645988	GM12878	blood:	n/a	chr11:34645873-34645886
12	EBF1	chr11:34645606-34645959	GM12878	blood:	n/a	n/a
13	FOXM1	chr11:34645611-34645939	GM12878	blood:	n/a	chr11:34645631-34645639
14	RCOR1	chr11:34645615-34645815	GM12878	blood:	n/a	n/a
15	YY1	chr11:34645622-34645822	GM12878	blood:	n/a	n/a
16	NFIC	chr11:34645582-34646059	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:34645631-34645989	HCT-116	colon:	n/a	n/a
18	WRNIP1	chr11:34645682-34645801	GM12878	blood:	n/a	n/a
19	PAX5	chr11:34645696-34645937	GM12878	blood:	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: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16925912	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16925936	0.91[YRI][hapmap];0.80[AFR][1000 genomes]
rs59338646	1.00[AMR][1000 genomes]
rs60725960	1.00[AMR][1000 genomes]
rs73446805	1.00[AFR][1000 genomes]
rs73446821	0.80[AFR][1000 genomes]
rs7934718	0.83[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34637800-34649200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:34639800-34653800	Weak transcription	Right Atrium	heart
3	chr11:34642000-34646800	Active TSS	Esophagus	oesophagus
4	chr11:34642000-34647200	Active TSS	Rectal Smooth Muscle	rectum
5	chr11:34642200-34646600	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr11:34642200-34646800	Active TSS	Small Intestine	intestine
7	chr11:34642400-34646200	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr11:34642400-34646600	Active TSS	Stomach Mucosa	stomach
9	chr11:34642800-34647000	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr11:34642800-34647200	Active TSS	Gastric	stomach
11	chr11:34642800-34647200	Active TSS	Sigmoid Colon	Sigmoid Colon
12	chr11:34643600-34648200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr11:34643800-34647200	Transcr. at gene 5' and 3'	NHEK	skin
14	chr11:34644000-34645800	Weak transcription	HSMMtube	muscle
15	chr11:34644000-34646400	Weak transcription	Lung	lung
16	chr11:34644000-34646600	Weak transcription	K562	blood
17	chr11:34644000-34648000	Weak transcription	NHDF-Ad	bronchial
18	chr11:34644000-34650200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:34644000-34650200	Weak transcription	Brain Substantia Nigra	brain
20	chr11:34644000-34650200	Weak transcription	A549	lung
21	chr11:34644000-34651200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:34644200-34647400	Weak transcription	HepG2	liver
23	chr11:34644200-34650800	Weak transcription	Brain Anterior Caudate	brain
24	chr11:34644200-34652000	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:34644400-34647600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:34644600-34645800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:34644600-34646800	Weak transcription	HMEC	breast
28	chr11:34644600-34647200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:34644800-34645800	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr11:34645200-34645800	Flanking Active TSS	GM12878-XiMat	blood
31	chr11:34645200-34646000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:34645200-34646000	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr11:34645200-34646200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr11:34645400-34645800	Flanking Active TSS	Colonic Mucosa	Colon
35	chr11:34645400-34645800	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr11:34645400-34646200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
37	chr11:34645400-34646200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:34645400-34646400	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr11:34645600-34645800	Flanking Active TSS	Pancreas	Pancrea

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