Variant report

Variant	rs2111271
Chromosome Location	chr12:12625588-12625589
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12625312..12627407-chr12:12628734..12630245,2	MCF-7	breast:
2	chr12:12624389..12628986-chr12:12712843..12715997,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111266	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10743988	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10845552	0.88[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.84[YRI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10845559	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10845560	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10845567	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10845572	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs11054937	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11054940	0.95[CHB][hapmap];0.80[JPT][hapmap];0.88[ASN][1000 genomes]
rs11054941	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11054942	0.90[CHB][hapmap];0.80[JPT][hapmap];0.88[ASN][1000 genomes]
rs11054947	0.87[ASN][1000 genomes]
rs11613385	0.95[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs12422540	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1558822	0.88[ASN][1000 genomes]
rs2417189	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2417190	0.91[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs3815591	0.84[ASN][1000 genomes]
rs4255620	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4763832	0.90[ASN][1000 genomes]
rs4763833	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs7137455	0.90[CHB][hapmap];0.80[JPT][hapmap];0.89[ASN][1000 genomes]
rs7294378	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7295305	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs7295427	0.89[ASN][1000 genomes]
rs7310652	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs744170	0.84[AFR][1000 genomes]
rs7972902	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs933575	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs962928	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[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	nsv898810	chr12:12600080-12627410	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12596000-12629800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:12597400-12629000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:12603800-12639200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:12604000-12628600	Weak transcription	Fetal Lung	lung
5	chr12:12607800-12629400	Weak transcription	Fetal Kidney	kidney
6	chr12:12608400-12627200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:12608400-12629600	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:12609200-12626800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:12609800-12628400	Weak transcription	NHLF	lung
10	chr12:12610800-12658000	Weak transcription	NHDF-Ad	bronchial
11	chr12:12611000-12627800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:12611000-12628600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:12611200-12627400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:12611200-12629000	Weak transcription	Hela-S3	cervix
15	chr12:12613400-12627400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:12614600-12627400	Weak transcription	Spleen	Spleen
17	chr12:12615400-12626600	Weak transcription	GM12878-XiMat	blood
18	chr12:12616400-12627400	Weak transcription	HepG2	liver
19	chr12:12616400-12629800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:12617000-12628800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:12618400-12626800	Weak transcription	K562	blood
22	chr12:12618400-12642200	Weak transcription	Stomach Mucosa	stomach
23	chr12:12618800-12626600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:12618800-12626800	Weak transcription	Colonic Mucosa	Colon
25	chr12:12618800-12629800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:12619000-12626600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:12619000-12629200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:12619000-12634000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr12:12619400-12629200	Weak transcription	Right Ventricle	heart
30	chr12:12619600-12626600	Weak transcription	Liver	Liver
31	chr12:12619800-12627200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:12619800-12627600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:12620000-12629000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:12621000-12627200	Weak transcription	Dnd41	blood
35	chr12:12621000-12628200	Weak transcription	Pancreas	Pancrea
36	chr12:12621000-12628400	Weak transcription	Aorta	Aorta
37	chr12:12621000-12629000	Weak transcription	Osteobl	bone
38	chr12:12621000-12630000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:12621200-12627000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr12:12621200-12627400	Weak transcription	Brain Angular Gyrus	brain
41	chr12:12621200-12627600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr12:12621200-12629000	Weak transcription	Ovary	ovary
43	chr12:12621200-12629000	Weak transcription	HSMM	muscle
44	chr12:12621400-12626200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:12621400-12626800	Weak transcription	HSMMtube	muscle
46	chr12:12621400-12627400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:12621400-12627600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr12:12621400-12628200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:12621400-12628400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr12:12621400-12628600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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