Variant report

Variant	rs12135392
Chromosome Location	chr1:158036570-158036571
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12120913	1.00[CEU][hapmap]
rs55801940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999542	chr1:158015715-158368132	Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1005196	chr1:158015996-158065522	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv523208	chr1:158022217-158088687	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv1003592	chr1:158024499-158061043	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:157997600-158047600	Weak transcription	Dnd41	blood
2	chr1:158001200-158047400	Weak transcription	Thymus	Thymus
3	chr1:158023600-158036600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:158023600-158036800	Weak transcription	NH-A	brain
5	chr1:158023600-158048800	Weak transcription	A549	lung
6	chr1:158025800-158050000	Weak transcription	Hela-S3	cervix
7	chr1:158026000-158036600	Weak transcription	Aorta	Aorta
8	chr1:158026000-158037600	Weak transcription	Pancreas	Pancrea
9	chr1:158027000-158036600	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:158028200-158038800	Weak transcription	HUVEC	blood vessel
11	chr1:158028600-158036600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:158028800-158036800	Weak transcription	NHDF-Ad	bronchial
13	chr1:158029000-158036800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:158029200-158036800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:158029200-158038000	Weak transcription	Spleen	Spleen
16	chr1:158029200-158047200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:158030000-158046800	Weak transcription	Fetal Intestine Large	intestine
18	chr1:158030400-158037000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:158030400-158037400	Weak transcription	Fetal Brain Female	brain
20	chr1:158030400-158037600	Weak transcription	Fetal Brain Male	brain
21	chr1:158030400-158040200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:158030600-158038800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:158030600-158040800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:158030800-158036800	Strong transcription	NHEK	skin
25	chr1:158030800-158040000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:158031000-158037000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:158031000-158037200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:158031000-158037200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:158031000-158037200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:158031000-158037400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:158031000-158041000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:158031200-158037600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:158031400-158041000	Weak transcription	Fetal Intestine Small	intestine
34	chr1:158031800-158036600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:158033600-158037800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:158033800-158036600	Weak transcription	NHLF	lung
37	chr1:158034000-158037000	Weak transcription	Osteobl	bone
38	chr1:158034000-158038200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:158034200-158036800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:158034200-158037200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:158034800-158037400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr1:158034800-158037600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:158034800-158043400	Enhancers	Ovary	ovary
44	chr1:158035000-158037000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr1:158035200-158041400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:158035400-158040400	Enhancers	Adipose Nuclei	Adipose
47	chr1:158035600-158036800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:158035600-158039000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:158035600-158039000	Weak transcription	Fetal Kidney	kidney
50	chr1:158035800-158037600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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