Variant report

Variant	rs12274512
Chromosome Location	chr11:36309294-36309295
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:36308553..36310519-chr3:28494833..28496353,2	K562	blood:
2	chr11:36303032..36306180-chr11:36307506..36310865,3	K562	blood:
3	chr11:36281244..36283748-chr11:36307476..36309302,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10836525	0.94[EUR][1000 genomes]
rs11033520	0.94[EUR][1000 genomes]
rs12272725	0.94[EUR][1000 genomes]
rs12275072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282145	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283981	0.84[EUR][1000 genomes]
rs12285631	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12285953	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12286007	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12286010	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12286643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12292727	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294357	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289984	0.94[EUR][1000 genomes]
rs2289985	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv3359911	chr11:36307601-36310149	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	esv3375312	chr11:36307926-36309974	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	esv3339043	chr11:36308426-36309424	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36288000-36310200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr11:36290800-36310400	Weak transcription	Stomach Mucosa	stomach
3	chr11:36292000-36309600	Weak transcription	Psoas Muscle	Psoas
4	chr11:36292200-36309600	Weak transcription	A549	lung
5	chr11:36295000-36310000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:36296400-36309800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:36296600-36309600	Weak transcription	Fetal Lung	lung
8	chr11:36296600-36309600	Weak transcription	NHLF	lung
9	chr11:36298200-36310000	Weak transcription	NHDF-Ad	bronchial
10	chr11:36298400-36309400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr11:36300600-36309600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:36300600-36309600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:36300600-36309600	Weak transcription	Right Ventricle	heart
14	chr11:36300800-36309600	Weak transcription	Pancreas	Pancrea
15	chr11:36300800-36309600	Weak transcription	Spleen	Spleen
16	chr11:36300800-36310000	Weak transcription	Colonic Mucosa	Colon
17	chr11:36300800-36310000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr11:36300800-36310000	Weak transcription	Gastric	stomach
19	chr11:36301000-36309400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:36301000-36309600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr11:36301000-36309800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:36301000-36309800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr11:36301200-36309400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr11:36301200-36309400	Weak transcription	HepG2	liver
25	chr11:36301200-36309600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr11:36301200-36309800	Weak transcription	Colon Smooth Muscle	Colon
27	chr11:36301200-36310200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:36301400-36309400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:36301400-36309600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:36301600-36310000	Weak transcription	Placenta	Placenta
31	chr11:36301800-36309600	Weak transcription	Left Ventricle	heart
32	chr11:36301800-36310000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:36302000-36310000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:36302000-36310000	Weak transcription	Thymus	Thymus
35	chr11:36302200-36309400	Weak transcription	HUVEC	blood vessel
36	chr11:36302200-36309600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:36302200-36309600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:36302200-36310000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr11:36302400-36309400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr11:36302400-36309400	Weak transcription	Adipose Nuclei	Adipose
41	chr11:36302400-36309600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr11:36302400-36309600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr11:36302400-36309600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr11:36302400-36310000	Weak transcription	Fetal Muscle Leg	muscle
45	chr11:36302400-36310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:36303000-36309600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr11:36303000-36309800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:36303000-36310400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:36303200-36309600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:36303200-36309800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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