Variant report

Variant	rs11217737
Chromosome Location	chr11:120040351-120040352
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:120038992..120040633-chr11:120083752..120086483,2	K562	blood:
2	chr11:120036264..120041871-chr11:120106231..120109757,9	K562	blood:
3	chr11:120039493..120041713-chr11:120171400..120173344,2	MCF-7	breast:
4	chr11:120037531..120041521-chr11:120105416..120108760,8	K562	blood:
5	chr11:120040154..120042795-chr11:120100030..120102523,3	K562	blood:
6	chr11:120040035..120042877-chr11:120088247..120091000,2	K562	blood:
7	chr11:119990371..119993698-chr11:120037887..120041016,6	MCF-7	breast:
8	chr11:120038506..120040920-chr11:120082703..120085252,3	K562	blood:
9	chr11:120040105..120041638-chr11:120170388..120172497,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184232	Chromatin interaction
ENSG00000137699	Chromatin interaction
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10790369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10892544	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10892545	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11217701	0.89[AMR][1000 genomes]
rs11217702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11217705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11217706	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11217707	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11217708	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217710	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217712	1.00[ASN][1000 genomes]
rs11217713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11217723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217725	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11217726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217727	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217741	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217742	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11217743	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217744	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217745	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11217746	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217748	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217749	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217750	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217751	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217753	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11217754	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11535714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12049837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12224041	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12224472	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12225418	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12274981	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12281157	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12283165	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12291620	0.94[AMR][1000 genomes]
rs12417084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12417094	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12418352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12419511	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12419830	0.89[AMR][1000 genomes]
rs12419976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12419985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12421218	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12422179	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34981150	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3740728	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3740729	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3740730	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3740731	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs679074	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7119349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7119458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73575945	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120039200-120040400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr11:120039200-120040400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
3	chr11:120039200-120040400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr11:120039200-120040800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:120039200-120040800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:120039200-120040800	Bivalent/Poised TSS	Fetal Brain Female	brain
7	chr11:120039200-120040800	Enhancers	Spleen	Spleen
8	chr11:120039200-120041000	Bivalent Enhancer	Fetal Heart	heart
9	chr11:120039200-120041200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr11:120039400-120040400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr11:120039400-120040400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:120039400-120040400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
13	chr11:120039400-120040400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
14	chr11:120039400-120040400	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr11:120039400-120040400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:120039400-120040400	Bivalent/Poised TSS	Primary T killer memory cells from peripheral blood	blood
17	chr11:120039400-120040400	Active TSS	Brain Angular Gyrus	brain
18	chr11:120039400-120040400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:120039400-120040400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
20	chr11:120039400-120040400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
21	chr11:120039400-120040400	Flanking Bivalent TSS/Enh	Placenta	Placenta
22	chr11:120039400-120040400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
23	chr11:120039400-120040400	Active TSS	Ovary	ovary
24	chr11:120039400-120040400	Flanking Active TSS	Right Ventricle	heart
25	chr11:120039400-120040400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
26	chr11:120039400-120040600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:120039400-120040600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:120039400-120040600	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr11:120039400-120040600	Flanking Active TSS	HMEC	breast
30	chr11:120039400-120040600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
31	chr11:120039400-120040800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr11:120039400-120041000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:120039600-120040400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:120039600-120040400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:120039600-120040400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr11:120039600-120040400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
37	chr11:120039600-120040400	Active TSS	Aorta	Aorta
38	chr11:120039600-120040400	Active TSS	Brain Anterior Caudate	brain
39	chr11:120039600-120040400	Flanking Active TSS	Colonic Mucosa	Colon
40	chr11:120039600-120040400	Active TSS	Fetal Kidney	kidney
41	chr11:120039600-120040400	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr11:120039600-120040400	Active TSS	Rectal Smooth Muscle	rectum
43	chr11:120039600-120040400	Active TSS	Right Atrium	heart
44	chr11:120039600-120040400	Active TSS	K562	blood
45	chr11:120039600-120040400	Active TSS	NHDF-Ad	bronchial
46	chr11:120039600-120040600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:120039600-120041000	Active TSS	Brain Cingulate Gyrus	brain
48	chr11:120039800-120040400	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr11:120039800-120040400	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr11:120039800-120040400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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