Variant report

Variant	rs12091446
Chromosome Location	chr1:94292408-94292409
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94290941..94292978-chr1:94306774..94308364,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11800228	0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs57108173	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57729501	1.00[AMR][1000 genomes]
rs58491053	1.00[AMR][1000 genomes]
rs60890703	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72965425	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72965494	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72965496	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1877	chr1:94247756-94292908	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv508415	chr1:94256122-94305339	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv1822452	chr1:94278128-94320233	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
4	esv1003322	chr1:94285785-94294520	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3319346	chr1:94286364-94293162	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv546831	chr1:94288524-94294190	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv546832	chr1:94288524-94294492	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1831177	chr1:94288524-94304239	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94279600-94302800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:94283400-94310000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:94283600-94293400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:94284000-94294600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:94284200-94306200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:94284200-94311200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:94284400-94296000	Weak transcription	Fetal Intestine Small	intestine
8	chr1:94286400-94294800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:94286600-94295600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr1:94287400-94293600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:94287600-94292600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:94287600-94292800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:94287600-94292800	Weak transcription	A549	lung
14	chr1:94287600-94292800	Weak transcription	HSMM	muscle
15	chr1:94287600-94292800	Weak transcription	HSMMtube	muscle
16	chr1:94287600-94292800	Weak transcription	NH-A	brain
17	chr1:94287600-94293200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:94287600-94294000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:94287800-94292800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:94288200-94293200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:94288800-94292800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:94288800-94293600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:94289000-94292800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:94289000-94293000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:94289000-94293000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:94289000-94293200	Weak transcription	NHEK	skin
27	chr1:94289200-94292800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:94289600-94292600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:94290000-94296400	Enhancers	Placenta	Placenta
30	chr1:94290200-94311400	Weak transcription	Aorta	Aorta
31	chr1:94290600-94292600	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:94290600-94293200	Weak transcription	HMEC	breast
33	chr1:94290800-94293400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:94291200-94294800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:94291800-94292600	Enhancers	Spleen	Spleen
36	chr1:94291800-94293400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:94291800-94293600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:94292200-94294200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:94292400-94292600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:94292400-94293200	Enhancers	Lung	lung
41	chr1:94292400-94293200	Enhancers	HUVEC	blood vessel
42	chr1:94292400-94293600	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr1:94292400-94294200	Enhancers	NHDF-Ad	bronchial
44	chr1:94292400-94294400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:94292400-94294800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:94292400-94294800	Enhancers	HepG2	liver

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