Variant report

Variant	rs11231888
Chromosome Location	chr11:64605227-64605228
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	MAX	chr11:64605155-64605498	K562	blood:	n/a	n/a
2	POLR2A	chr11:64605110-64605432	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:64603535..64606034-chr11:64644190..64645808,2	K562	blood:
2	chr11:64577492..64579493-chr11:64603762..64605966,2	MCF-7	breast:
3	chr11:64594387..64597054-chr11:64604834..64606639,2	K562	blood:
4	chr11:64570822..64573255-chr11:64603149..64605696,2	K562	blood:
5	chr11:64544242..64546018-chr11:64604401..64606086,2	MCF-7	breast:
6	chr11:64598716..64601448-chr11:64602943..64606477,3	K562	blood:

No data

Variant related genes	Relation type
CDC42BPG	TF binding region
ENSG00000110047	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000133895	Chromatin interaction
ENSG00000171219	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10897531	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11231892	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11231897	1.00[AMR][1000 genomes]
rs11824823	1.00[EUR][1000 genomes]
rs11825104	1.00[EUR][1000 genomes]
rs35197993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57983247	1.00[EUR][1000 genomes]
rs58009266	1.00[EUR][1000 genomes]
rs60568743	1.00[EUR][1000 genomes]
rs61746813	1.00[EUR][1000 genomes]
rs73474770	1.00[EUR][1000 genomes]
rs73474771	1.00[EUR][1000 genomes]
rs73474781	1.00[EUR][1000 genomes]
rs73477004	1.00[EUR][1000 genomes]
rs73477025	1.00[EUR][1000 genomes]
rs73477027	1.00[EUR][1000 genomes]
rs73479135	1.00[EUR][1000 genomes]
rs73481122	1.00[EUR][1000 genomes]
rs73494264	1.00[EUR][1000 genomes]
rs73494273	1.00[EUR][1000 genomes]
rs73496391	1.00[EUR][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	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
14	nsv897708	chr11:64602757-64695271	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS 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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64582600-64609600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:64582600-64611000	Weak transcription	Primary B cells from cord blood	blood
3	chr11:64590600-64609400	Weak transcription	Fetal Lung	lung
4	chr11:64591000-64610600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:64591200-64605400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:64591200-64609600	Strong transcription	Fetal Intestine Small	intestine
7	chr11:64591200-64611600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:64591600-64611200	Weak transcription	Small Intestine	intestine
9	chr11:64592800-64608200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:64593000-64608400	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:64593400-64607400	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr11:64593400-64608200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:64593400-64611000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr11:64593800-64611400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:64594400-64609600	Strong transcription	Colonic Mucosa	Colon
16	chr11:64595400-64608600	Strong transcription	Fetal Stomach	stomach
17	chr11:64596000-64611600	Weak transcription	Right Atrium	heart
18	chr11:64596200-64609400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:64596600-64609600	Weak transcription	K562	blood
20	chr11:64597400-64611400	Weak transcription	Liver	Liver
21	chr11:64597600-64608400	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr11:64597600-64611200	Weak transcription	Fetal Thymus	thymus
23	chr11:64597800-64611400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr11:64597800-64611400	Weak transcription	Fetal Kidney	kidney
25	chr11:64598000-64606400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:64598000-64610800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr11:64600000-64606200	Weak transcription	Ovary	ovary
28	chr11:64600600-64608000	Strong transcription	Fetal Intestine Large	intestine
29	chr11:64601200-64609800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:64601800-64605400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:64602000-64605600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr11:64602000-64608400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr11:64602400-64605600	Genic enhancers	Esophagus	oesophagus
34	chr11:64602400-64605800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr11:64603000-64605400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr11:64603200-64605400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:64603200-64606800	Weak transcription	Fetal Muscle Leg	muscle
38	chr11:64603200-64610600	Weak transcription	HSMMtube	muscle
39	chr11:64603400-64605400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr11:64603400-64605400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:64603400-64605600	Weak transcription	Thymus	Thymus
42	chr11:64603400-64609200	Weak transcription	Stomach Mucosa	stomach
43	chr11:64603400-64609400	Weak transcription	Hela-S3	cervix
44	chr11:64603600-64605400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr11:64603600-64605400	Weak transcription	NHEK	skin
46	chr11:64603600-64606000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:64603600-64608000	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr11:64603600-64609800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr11:64603800-64605400	Weak transcription	Spleen	Spleen
50	chr11:64603800-64606000	Weak transcription	H9 Cell Line	embryonic stem cell

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