Variant report

Variant	rs11826380
Chromosome Location	chr11:62302085-62302086
allele	A/G
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	FOXA1	chr11:62301798-62302179	HepG2	liver:	n/a	chr11:62302021-62302033
2	POLR2A	chr11:62299154-62302954	U87	brain:	n/a	n/a
3	FOXA1	chr11:62301894-62302128	HepG2	liver:	n/a	chr11:62302021-62302033
4	POLR2A	chr11:62301752-62302147	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr11:62301454-62302311	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:62279462-62304472	PANC-1	pancreas:	n/a	n/a
7	FOXA2	chr11:62301814-62302140	HepG2	liver:	n/a	chr11:62302021-62302033
8	POLR2A	chr11:62280310-62302884	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr11:62299160-62302948	U87	brain:	n/a	n/a
10	FOXA1	chr11:62301790-62302196	HepG2	liver:	n/a	chr11:62302021-62302033
11	POLR2A	chr11:62301742-62302674	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:62288270..62291240-chr11:62300748..62302459,2	K562	blood:
2	chr11:62300287..62302681-chr11:62303750..62307899,4	MCF-7	breast:
3	chr11:62274977..62278202-chr11:62299637..62302170,3	MCF-7	breast:
4	chr11:62297345..62299908-chr11:62300633..62303263,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250659	TF binding region
ENSG00000250659	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11824660	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11826949	0.83[ASW][hapmap];0.88[LWK][hapmap];0.91[MKK][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17157377	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17157379	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41346047	1.00[MEX][hapmap]
rs41427449	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
5	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	esv1801128	chr11:62276347-62329897	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
7	esv1831183	chr11:62276347-62329897	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
9	nsv347	chr11:62297068-62338927	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62277600-62303600	Strong transcription	Fetal Stomach	stomach
2	chr11:62281000-62304000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr11:62281000-62304800	Strong transcription	Rectal Mucosa Donor 31	rectum
4	chr11:62281200-62303200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:62281200-62303400	Strong transcription	Gastric	stomach
6	chr11:62281200-62303800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:62281200-62304000	Strong transcription	Fetal Muscle Leg	muscle
8	chr11:62281200-62306200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:62281400-62303200	Strong transcription	Lung	lung
10	chr11:62281400-62305600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr11:62281600-62303400	Strong transcription	Fetal Intestine Small	intestine
12	chr11:62281600-62303600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:62281600-62306000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:62281800-62303600	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr11:62281800-62303600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr11:62281800-62304200	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr11:62281800-62304400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr11:62281800-62304400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:62281800-62304400	Strong transcription	Placenta	Placenta
20	chr11:62282000-62303400	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:62282000-62303600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr11:62282000-62303600	Strong transcription	Osteobl	bone
23	chr11:62282000-62303800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:62282000-62304200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:62282000-62304400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr11:62282000-62304800	Strong transcription	HSMM	muscle
27	chr11:62282000-62305400	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:62282400-62302200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:62282400-62304400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr11:62282600-62305000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:62283000-62302800	Strong transcription	NH-A	brain
32	chr11:62283000-62304400	Strong transcription	HMEC	breast
33	chr11:62283200-62305000	Strong transcription	NHEK	skin
34	chr11:62283400-62302800	Strong transcription	HUVEC	blood vessel
35	chr11:62283400-62306600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr11:62283600-62303200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:62284200-62303200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:62284200-62303600	Strong transcription	A549	lung
39	chr11:62284200-62305800	Strong transcription	Aorta	Aorta
40	chr11:62284400-62303400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:62285400-62303600	Strong transcription	NHLF	lung
42	chr11:62285800-62305600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:62286000-62303600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:62286000-62304200	Strong transcription	Liver	Liver
45	chr11:62286200-62304400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr11:62286400-62302200	Strong transcription	Esophagus	oesophagus
47	chr11:62286600-62302400	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr11:62286600-62303200	Strong transcription	NHDF-Ad	bronchial
49	chr11:62286600-62303600	Strong transcription	Left Ventricle	heart
50	chr11:62287800-62303800	Strong transcription	Fetal Lung	lung

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