Variant report

Variant	rs494252
Chromosome Location	chr11:64600002-64600003
allele	G/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	POLR2A	chr11:64599996-64600062	K562	blood:	n/a	n/a
2	POLR2A	chr11:64599839-64600028	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64598378..64602131-chr11:64643786..64647178,3	K562	blood:

Variant related genes	Relation type
CDC42BPG	TF binding region
ENSG00000110047	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs544822	0.84[GIH][hapmap]
rs647145	0.84[GIH][hapmap]
rs670358	0.84[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
2	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak 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	1071 gene(s)	inside rSNPs	diseases
6	nsv1049744	chr11:64486615-64630149	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
7	nsv832189	chr11:64487183-64620199	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
8	nsv469962	chr11:64527080-64621573	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
9	nsv897704	chr11:64584987-64701030	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
10	nsv897705	chr11:64591679-64701030	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
11	nsv897706	chr11:64591679-64721908	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
12	nsv555207	chr11:64600002-64620518	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
13	nsv897707	chr11:64600002-64701030	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64578600-64602600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:64578800-64601400	Weak transcription	Stomach Mucosa	stomach
3	chr11:64582600-64609600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:64582600-64611000	Weak transcription	Primary B cells from cord blood	blood
5	chr11:64589600-64600800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr11:64590400-64602400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:64590600-64609400	Weak transcription	Fetal Lung	lung
8	chr11:64590800-64602600	Strong transcription	Placenta	Placenta
9	chr11:64590800-64604600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:64591000-64602600	Strong transcription	Placenta Amnion	Placenta Amnion
11	chr11:64591000-64610600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:64591200-64602400	Strong transcription	Esophagus	oesophagus
13	chr11:64591200-64605400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:64591200-64609600	Strong transcription	Fetal Intestine Small	intestine
15	chr11:64591200-64611600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:64591400-64604400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr11:64591600-64602000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:64591600-64602600	Strong transcription	Gastric	stomach
19	chr11:64591600-64611200	Weak transcription	Small Intestine	intestine
20	chr11:64592000-64604200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr11:64592600-64604200	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:64592800-64602400	Strong transcription	NHEK	skin
23	chr11:64592800-64602600	Strong transcription	Pancreas	Pancrea
24	chr11:64592800-64603000	Strong transcription	Duodenum Mucosa	Duodenum
25	chr11:64592800-64608200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr11:64593000-64600800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:64593000-64603400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:64593000-64608400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:64593400-64607400	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr11:64593400-64608200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:64593400-64611000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr11:64593600-64601200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:64593600-64601800	Strong transcription	Primary T cells from cord blood	blood
34	chr11:64593600-64603600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:64593800-64603200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:64593800-64611400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:64594000-64602000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:64594400-64609600	Strong transcription	Colonic Mucosa	Colon
39	chr11:64594600-64603000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr11:64595200-64600800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:64595200-64602800	Weak transcription	Fetal Muscle Leg	muscle
42	chr11:64595200-64604600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr11:64595400-64608600	Strong transcription	Fetal Stomach	stomach
44	chr11:64596000-64611600	Weak transcription	Right Atrium	heart
45	chr11:64596200-64609400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:64596600-64609600	Weak transcription	K562	blood
47	chr11:64596800-64601200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr11:64596800-64603400	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:64596800-64603800	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr11:64597400-64602400	Strong transcription	Primary T helper cells fromperipheralblood	blood

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