Variant report

Variant	rs12270217
Chromosome Location	chr11:4209017-4209018
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:4205317..4208248-chr11:4208372..4210447,2	K562	blood:
2	chr11:4208460..4209382-chr11:4513705..4515541,8	MCF-7	breast:
3	chr11:4208515..4209433-chr11:4658248..4659042,2	K562	blood:
4	chr11:4208891..4209471-chr11:4572771..4573597,3	MCF-7	breast:
5	chr11:4208647..4209327-chr11:4572350..4573087,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10128557	0.95[ASN][1000 genomes]
rs1036848	0.95[ASN][1000 genomes]
rs10734407	0.90[ASN][1000 genomes]
rs10742250	0.95[ASN][1000 genomes]
rs10767875	0.97[ASN][1000 genomes]
rs10767887	0.82[ASN][1000 genomes]
rs10767888	0.84[ASN][1000 genomes]
rs10835698	0.85[ASN][1000 genomes]
rs10835716	0.96[ASN][1000 genomes]
rs10835733	0.96[ASN][1000 genomes]
rs10835739	0.85[ASN][1000 genomes]
rs10835740	0.86[ASN][1000 genomes]
rs11031217	0.88[ASN][1000 genomes]
rs11031218	0.97[ASN][1000 genomes]
rs1442724	0.85[ASN][1000 genomes]
rs1837977	0.82[ASN][1000 genomes]
rs2044137	0.97[ASN][1000 genomes]
rs2412365	0.88[ASN][1000 genomes]
rs4087185	0.82[ASN][1000 genomes]
rs4243969	0.97[ASN][1000 genomes]
rs4910603	0.95[ASN][1000 genomes]
rs4910917	0.95[ASN][1000 genomes]
rs4910922	0.96[ASN][1000 genomes]
rs4910923	0.86[ASN][1000 genomes]
rs6421039	0.88[ASN][1000 genomes]
rs6578457	0.95[ASN][1000 genomes]
rs6578460	0.88[ASN][1000 genomes]
rs6578461	0.92[ASN][1000 genomes]
rs7104032	0.85[ASN][1000 genomes]
rs7105300	0.85[ASN][1000 genomes]
rs7115352	0.83[ASN][1000 genomes]
rs7121040	0.94[ASN][1000 genomes]
rs7949512	0.83[ASN][1000 genomes]
rs881410	0.97[ASN][1000 genomes]
rs894458	0.86[ASN][1000 genomes]
rs894460	0.96[ASN][1000 genomes]
rs9919530	0.95[ASN][1000 genomes]
rs9919651	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv832053	chr11:4096527-4330263	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1053189	chr11:4123119-4359044	Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1048590	chr11:4133055-4225100	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv540911	chr11:4133055-4225100	Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1053482	chr11:4138062-4276133	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3380413	chr11:4159374-4323846	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv8777	chr11:4159953-4387268	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1045527	chr11:4162019-4225100	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv34983	chr11:4162474-4325792	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	esv2757417	chr11:4162477-4325792	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv818795	chr11:4167416-4238930	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv467662	chr11:4185595-4272343	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv553151	chr11:4185595-4272343	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv469627	chr11:4186981-4336490	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	nsv482725	chr11:4186981-4336490	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	nsv428799	chr11:4186981-4336490	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
20	nsv471670	chr11:4186982-4336490	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv467663	chr11:4188188-4238930	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv553152	chr11:4188188-4238930	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv469932	chr11:4200169-4272343	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
24	esv3426224	chr11:4207601-4210149	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4206800-4209200	Weak transcription	Fetal Heart	heart
2	chr11:4208000-4209200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr11:4208000-4209200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr11:4208000-4209200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr11:4208000-4209200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr11:4208000-4209200	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr11:4208000-4209200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr11:4208000-4209200	Active TSS	K562	blood
9	chr11:4208000-4209400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr11:4208000-4209400	Active TSS	A549	lung
11	chr11:4208000-4209600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:4208200-4209200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr11:4208200-4209200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:4208200-4209200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:4208200-4209200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:4208200-4209200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
17	chr11:4208200-4209200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:4208200-4209200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:4208200-4209200	Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr11:4208200-4209200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:4208200-4209200	Active TSS	Brain Angular Gyrus	brain
22	chr11:4208200-4209200	Active TSS	Brain Anterior Caudate	brain
23	chr11:4208200-4209200	Active TSS	Colon Smooth Muscle	Colon
24	chr11:4208200-4209200	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr11:4208200-4209200	Active TSS	Fetal Stomach	stomach
26	chr11:4208200-4209200	Active TSS	Psoas Muscle	Psoas
27	chr11:4208200-4209200	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr11:4208200-4209200	Active TSS	Rectal Smooth Muscle	rectum
29	chr11:4208200-4209200	Active TSS	Right Atrium	heart
30	chr11:4208200-4209200	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr11:4208200-4209200	Active TSS	Stomach Smooth Muscle	stomach
32	chr11:4208200-4209200	Active TSS	HSMM	muscle
33	chr11:4208200-4209200	Active TSS	NH-A	brain
34	chr11:4208200-4209200	Active TSS	NHEK	skin
35	chr11:4208200-4209200	Active TSS	Osteobl	bone
36	chr11:4208200-4209400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:4208200-4209400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:4208200-4209400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:4208200-4209400	Active TSS	Brain Cingulate Gyrus	brain
40	chr11:4208200-4209400	Active TSS	Brain Hippocampus Middle	brain
41	chr11:4208200-4209400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:4208200-4209400	Active TSS	Fetal Brain Female	brain
43	chr11:4208200-4209400	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr11:4208200-4209400	Active TSS	Ovary	ovary
45	chr11:4208200-4209600	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr11:4208200-4209600	Active TSS	NHLF	lung
47	chr11:4208400-4209200	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr11:4208400-4209200	Active TSS	Aorta	Aorta
49	chr11:4208400-4209200	Active TSS	Pancreas	Pancrea
50	chr11:4208400-4209200	Flanking Active TSS	Thymus	Thymus

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