Variant report

Variant	rs11235569
Chromosome Location	chr11:72405545-72405546
allele	A/C
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	POLR2A	chr11:72405082-72405567	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72404935..72407742-chr11:72416727..72419484,2	K562	blood:
2	chr11:72399632..72402957-chr11:72403170..72405855,4	MCF-7	breast:

Variant related genes	Relation type
ARAP1	TF binding region
ENSG00000186635	Chromatin interaction
ENSG00000244134	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10898866	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11235575	0.93[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11607038	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12576058	0.85[CEU][hapmap]
rs1872126	0.85[CEU][hapmap]
rs2291289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2306607	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2306616	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs341053	0.85[CEU][hapmap]
rs34502849	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7125221	0.81[CEU][hapmap]
rs900613	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv555408	chr11:72405223-72441431	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv555409	chr11:72405450-72423385	Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr11:72392800-72405600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:72393800-72413400	Strong transcription	Fetal Intestine Small	intestine
3	chr11:72393800-72423200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr11:72394000-72413800	Strong transcription	Fetal Intestine Large	intestine
5	chr11:72394000-72414600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:72394000-72426800	Strong transcription	Thymus	Thymus
7	chr11:72394200-72408000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:72394200-72423600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr11:72394200-72425800	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:72394200-72429000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:72394400-72412000	Strong transcription	GM12878-XiMat	blood
12	chr11:72394400-72423200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:72394400-72423800	Strong transcription	Duodenum Mucosa	Duodenum
14	chr11:72394400-72424400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:72394600-72412800	Strong transcription	Gastric	stomach
16	chr11:72394600-72413200	Strong transcription	Lung	lung
17	chr11:72394600-72428800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:72394600-72429400	Strong transcription	Primary T cells from cord blood	blood
19	chr11:72394600-72430200	Strong transcription	Dnd41	blood
20	chr11:72395000-72408800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:72395000-72413600	Strong transcription	Fetal Brain Female	brain
22	chr11:72395000-72423800	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr11:72395000-72429800	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:72395200-72408400	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr11:72395200-72425600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:72395200-72429000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:72395400-72414200	Strong transcription	Brain Angular Gyrus	brain
28	chr11:72395400-72414200	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr11:72395400-72414400	Strong transcription	Brain Germinal Matrix	brain
30	chr11:72395800-72414000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:72396000-72405600	Weak transcription	NH-A	brain
32	chr11:72396000-72407800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:72396000-72411000	Strong transcription	NHEK	skin
34	chr11:72396000-72413600	Strong transcription	Brain Cingulate Gyrus	brain
35	chr11:72396000-72413600	Strong transcription	Brain Hippocampus Middle	brain
36	chr11:72396000-72425600	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr11:72396000-72426000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr11:72396200-72405800	Strong transcription	Pancreas	Pancrea
39	chr11:72396200-72408400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:72396200-72411000	Strong transcription	HMEC	breast
41	chr11:72396200-72413200	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr11:72396200-72423200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:72396400-72408400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:72396400-72411000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:72396400-72425400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr11:72396600-72406600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:72397000-72423400	Strong transcription	Primary B cells from cord blood	blood
48	chr11:72397200-72408800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr11:72397200-72409800	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:72397200-72414200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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