Variant report

Variant	rs11062170
Chromosome Location	chr12:2348844-2348845
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	chr12:2348220..2352908-chr12:2354792..2357849,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1006737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1024582	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10744560	0.96[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10774034	1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs10774035	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10774036	0.96[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10848642	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs11062159	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs11062161	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs11062162	0.85[CHB][hapmap];0.86[ASN][1000 genomes]
rs11062166	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1108073	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1108074	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs1108075	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1108221	1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1108222	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs12311439	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12315711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424245	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2007044	0.81[CEU][hapmap]
rs2159100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2190771	0.86[ASN][1000 genomes]
rs3922316	0.86[ASN][1000 genomes]
rs4298967	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4765904	1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs4765905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297582	0.82[JPT][hapmap]
rs758170	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs769087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965923	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040370	chr12:2021395-2671017	Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv948400	chr12:2022411-2601363	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2339000-2350600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:2339600-2349800	Weak transcription	Spleen	Spleen
3	chr12:2343000-2352600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:2344400-2349600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:2344400-2365000	Weak transcription	Aorta	Aorta
6	chr12:2345200-2349200	Weak transcription	Brain Angular Gyrus	brain
7	chr12:2345800-2351400	Enhancers	Right Atrium	heart
8	chr12:2346600-2351200	Enhancers	Stomach Smooth Muscle	stomach
9	chr12:2347400-2352000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:2347600-2350400	Enhancers	Fetal Muscle Leg	muscle
11	chr12:2347800-2358200	Enhancers	Right Ventricle	heart
12	chr12:2348000-2349200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:2348000-2349400	Enhancers	Fetal Brain Male	brain
14	chr12:2348000-2351200	Weak transcription	Fetal Thymus	thymus
15	chr12:2348200-2349000	Enhancers	Ovary	ovary
16	chr12:2348200-2349200	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:2348200-2349400	Enhancers	Fetal Brain Female	brain
18	chr12:2348200-2349800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
19	chr12:2348200-2350200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr12:2348200-2350200	Bivalent Enhancer	Fetal Stomach	stomach
21	chr12:2348400-2349000	Enhancers	Fetal Heart	heart
22	chr12:2348400-2349000	Flanking Active TSS	Left Ventricle	heart
23	chr12:2348400-2349600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:2348600-2349000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:2348600-2349200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:2348600-2349400	Enhancers	Brain Hippocampus Middle	brain
27	chr12:2348600-2351600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:2348600-2352200	Weak transcription	NHLF	lung
29	chr12:2348800-2349000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr12:2348800-2349000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:2348800-2349000	Enhancers	Brain Germinal Matrix	brain
32	chr12:2348800-2349000	Enhancers	HSMMtube	muscle
33	chr12:2348800-2349200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:2348800-2349600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:2348800-2350000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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