Variant report

Variant	rs11235566
Chromosome Location	chr11:72403388-72403389
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:72401884-72403562	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:72401660-72403613	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72396151..72399166-chr11:72401307..72404204,3	MCF-7	breast:
2	chr11:72401074..72403440-chr11:72406582..72409111,3	K562	blood:
3	chr11:72399632..72402957-chr11:72403170..72405855,4	MCF-7	breast:
4	chr11:72402366..72403874-chr11:72410717..72412421,2	K562	blood:
5	chr11:72401428..72404145-chr11:72405656..72408760,3	K562	blood:
6	chr11:72402366..72405186-chr11:72410430..72412421,2	K562	blood:

No data

Variant related genes	Relation type
ARAP1	TF binding region
ENSG00000186635	Chromatin interaction
ENSG00000245148	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10898865	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235572	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11235573	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11235574	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11602233	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605042	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.99[ASN][1000 genomes]
rs12274620	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12801699	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2306608	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306612	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35250343	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3765105	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.95[ASN][1000 genomes]
rs3816777	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105818	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7110501	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7112897	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs730783	0.95[ASN][1000 genomes]
rs900616	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
3	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72391400-72403800	Weak transcription	Small Intestine	intestine
2	chr11:72392800-72404000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:72392800-72404800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:72392800-72405600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:72393200-72403800	Weak transcription	Fetal Kidney	kidney
6	chr11:72393800-72413400	Strong transcription	Fetal Intestine Small	intestine
7	chr11:72393800-72423200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr11:72394000-72413800	Strong transcription	Fetal Intestine Large	intestine
9	chr11:72394000-72414600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:72394000-72426800	Strong transcription	Thymus	Thymus
11	chr11:72394200-72408000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:72394200-72423600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr11:72394200-72425800	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:72394200-72429000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:72394400-72412000	Strong transcription	GM12878-XiMat	blood
16	chr11:72394400-72423200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:72394400-72423800	Strong transcription	Duodenum Mucosa	Duodenum
18	chr11:72394400-72424400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:72394600-72412800	Strong transcription	Gastric	stomach
20	chr11:72394600-72413200	Strong transcription	Lung	lung
21	chr11:72394600-72428800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:72394600-72429400	Strong transcription	Primary T cells from cord blood	blood
23	chr11:72394600-72430200	Strong transcription	Dnd41	blood
24	chr11:72395000-72408800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:72395000-72413600	Strong transcription	Fetal Brain Female	brain
26	chr11:72395000-72423800	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr11:72395000-72429800	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:72395200-72408400	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr11:72395200-72425600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr11:72395200-72429000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:72395400-72403800	Weak transcription	K562	blood
32	chr11:72395400-72414200	Strong transcription	Brain Angular Gyrus	brain
33	chr11:72395400-72414200	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr11:72395400-72414400	Strong transcription	Brain Germinal Matrix	brain
35	chr11:72395600-72404600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:72395800-72414000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:72396000-72403600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr11:72396000-72405400	Strong transcription	Esophagus	oesophagus
39	chr11:72396000-72405600	Weak transcription	NH-A	brain
40	chr11:72396000-72407800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:72396000-72411000	Strong transcription	NHEK	skin
42	chr11:72396000-72413600	Strong transcription	Brain Cingulate Gyrus	brain
43	chr11:72396000-72413600	Strong transcription	Brain Hippocampus Middle	brain
44	chr11:72396000-72425600	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr11:72396000-72426000	Strong transcription	Primary B cells from peripheral blood	blood
46	chr11:72396200-72405800	Strong transcription	Pancreas	Pancrea
47	chr11:72396200-72408400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:72396200-72411000	Strong transcription	HMEC	breast
49	chr11:72396200-72413200	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr11:72396200-72423200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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