Variant report

Variant	rs1075692
Chromosome Location	chr11:65212447-65212448
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:65178877..65218546-chr11:65218612..65286191,1014	K562	blood:
2	chr11:65212257..65212966-chr19:30096653..30097173,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000270526	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000173727	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10896004	0.81[ASN][1000 genomes]
rs10896005	0.83[ASN][1000 genomes]
rs10896006	0.83[ASN][1000 genomes]
rs10896008	0.86[ASN][1000 genomes]
rs10896009	0.86[ASN][1000 genomes]
rs10896010	0.86[ASN][1000 genomes]
rs11227196	0.83[ASN][1000 genomes]
rs11227197	0.83[ASN][1000 genomes]
rs11227198	0.81[ASN][1000 genomes]
rs11227199	0.83[ASN][1000 genomes]
rs11227201	0.86[ASN][1000 genomes]
rs11227202	0.86[ASN][1000 genomes]
rs11227205	0.84[ASN][1000 genomes]
rs12269965	0.83[ASN][1000 genomes]
rs12269975	0.83[ASN][1000 genomes]
rs12294910	0.83[ASN][1000 genomes]
rs12360896	0.82[ASN][1000 genomes]
rs12364730	0.83[ASN][1000 genomes]
rs12788055	0.81[ASN][1000 genomes]
rs12803915	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808303	0.86[ASN][1000 genomes]
rs17146964	0.86[ASN][1000 genomes]
rs2096560	0.89[ASN][1000 genomes]
rs2508710	0.83[ASN][1000 genomes]
rs34527830	0.83[ASN][1000 genomes]
rs34582634	0.86[ASN][1000 genomes]
rs34877911	0.83[ASN][1000 genomes]
rs35292734	0.83[ASN][1000 genomes]
rs35469818	0.83[ASN][1000 genomes]
rs35826299	0.86[ASN][1000 genomes]
rs3825071	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57311037	0.86[ASN][1000 genomes]
rs7128776	0.86[ASN][1000 genomes]
rs7931615	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription 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 miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
3	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
4	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS 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	999 gene(s)	inside rSNPs	diseases
5	nsv541065	chr11:65117387-65271894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	835 gene(s)	inside rSNPs	diseases
6	esv1829999	chr11:65136686-65343124	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' 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	963 gene(s)	inside rSNPs	diseases
7	nsv897717	chr11:65140209-65278461	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	942 gene(s)	inside rSNPs	diseases
8	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
9	nsv541066	chr11:65142779-65271894	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers 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	833 gene(s)	inside rSNPs	diseases
10	nsv541067	chr11:65142779-65313799	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	950 gene(s)	inside rSNPs	diseases
11	nsv541068	chr11:65142779-65331136	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	953 gene(s)	inside rSNPs	diseases
12	nsv541069	chr11:65142779-65368787	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	965 gene(s)	inside rSNPs	diseases
13	nsv541070	chr11:65142779-65397058	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	972 gene(s)	inside rSNPs	diseases
14	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
15	nsv897719	chr11:65157094-65335705	Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers 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	949 gene(s)	inside rSNPs	diseases
16	nsv541072	chr11:65171202-65313799	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	946 gene(s)	inside rSNPs	diseases
17	nsv541073	chr11:65171202-65331136	Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription 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 miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
18	nsv541074	chr11:65171202-65368787	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	961 gene(s)	inside rSNPs	diseases
19	nsv541075	chr11:65210592-65331136	Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	620 gene(s)	inside rSNPs	diseases
20	nsv541076	chr11:65210592-65397058	Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	645 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65198000-65216000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:65200600-65214200	Strong transcription	NH-A	brain
3	chr11:65202600-65214400	Genic enhancers	A549	lung
4	chr11:65205200-65214400	Genic enhancers	Placenta	Placenta
5	chr11:65205600-65214800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:65205600-65217600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:65206400-65213000	Genic enhancers	Osteobl	bone
8	chr11:65206600-65214400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:65206600-65222000	Weak transcription	Fetal Kidney	kidney
10	chr11:65206800-65212800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:65207800-65214600	Genic enhancers	NHLF	lung
12	chr11:65208000-65212800	Genic enhancers	Rectal Mucosa Donor 29	rectum
13	chr11:65208200-65214600	Genic enhancers	Adipose Nuclei	Adipose
14	chr11:65208600-65214400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:65208800-65214200	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr11:65209000-65217400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:65209200-65213800	Genic enhancers	Pancreas	Pancrea
18	chr11:65209200-65214400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:65209200-65214400	Genic enhancers	Fetal Muscle Leg	muscle
20	chr11:65209400-65212800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:65209400-65212800	Genic enhancers	K562	blood
22	chr11:65209400-65213400	Enhancers	Right Atrium	heart
23	chr11:65209400-65214200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:65209400-65214400	Strong transcription	Thymus	Thymus
25	chr11:65209400-65214400	Genic enhancers	Spleen	Spleen
26	chr11:65209400-65214600	Genic enhancers	Fetal Muscle Trunk	muscle
27	chr11:65209600-65214600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:65209600-65214600	Genic enhancers	NHDF-Ad	bronchial
29	chr11:65209800-65213400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:65209800-65214000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:65210000-65212600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:65210000-65222000	Weak transcription	Brain Angular Gyrus	brain
33	chr11:65210000-65222200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:65210200-65214600	Strong transcription	Fetal Intestine Large	intestine
35	chr11:65210400-65212800	Genic enhancers	HepG2	liver
36	chr11:65210400-65216200	Genic enhancers	Muscle Satellite Cultured Cells	--
37	chr11:65210600-65212800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:65210800-65212800	Strong transcription	Stomach Mucosa	stomach
39	chr11:65210800-65213800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:65210800-65214200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr11:65210800-65214800	Strong transcription	Fetal Intestine Small	intestine
42	chr11:65210800-65222000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:65211000-65212800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:65211000-65213000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
45	chr11:65211000-65213400	Strong transcription	Rectal Smooth Muscle	rectum
46	chr11:65211000-65214600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:65211000-65214600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:65211200-65212800	Strong transcription	Primary T cells from cord blood	blood
49	chr11:65211200-65212800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr11:65211200-65213400	Strong transcription	Sigmoid Colon	Sigmoid Colon

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