Variant report

Variant	rs12078747
Chromosome Location	chr1:62478878-62478879
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1112774	1.00[ASN][1000 genomes]
rs12076607	1.00[ASN][1000 genomes]
rs17122901	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1888984	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs1888985	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs1888986	1.00[ASN][1000 genomes]
rs2457817	1.00[JPT][hapmap]
rs2476201	1.00[JPT][hapmap]
rs2481665	1.00[JPT][hapmap]
rs4915793	1.00[JPT][hapmap]
rs56683043	1.00[ASN][1000 genomes]
rs56945957	0.86[ASN][1000 genomes]
rs58402439	1.00[ASN][1000 genomes]
rs59469474	1.00[ASN][1000 genomes]
rs6703123	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs74076886	1.00[ASN][1000 genomes]
rs74076890	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74079609	1.00[ASN][1000 genomes]
rs7516950	1.00[ASN][1000 genomes]
rs7521447	1.00[ASN][1000 genomes]
rs7555002	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs991007	1.00[JPT][hapmap]

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	nsv518627	chr1:62279594-62517947	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv522020	chr1:62279594-62517947	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv531876	chr1:62302313-62504349	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1001667	chr1:62407786-62649838	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	esv2753481	chr1:62424207-62478878	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv546416	chr1:62437872-62492215	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62385000-62494200	Weak transcription	Aorta	Aorta
2	chr1:62409200-62518600	Weak transcription	Pancreas	Pancrea
3	chr1:62424200-62494200	Weak transcription	Esophagus	oesophagus
4	chr1:62444200-62479200	Weak transcription	Fetal Intestine Small	intestine
5	chr1:62446600-62487600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:62447400-62481200	Weak transcription	Lung	lung
7	chr1:62458800-62521400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:62459000-62484000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:62459000-62516000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:62459000-62530600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:62459200-62487800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:62459200-62511200	Weak transcription	Gastric	stomach
13	chr1:62459200-62550000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:62459400-62479000	Weak transcription	Left Ventricle	heart
15	chr1:62459400-62484000	Weak transcription	Liver	Liver
16	chr1:62459400-62493800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:62459600-62483600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:62459600-62494200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:62459800-62483600	Weak transcription	NHEK	skin
20	chr1:62460000-62499600	Weak transcription	Fetal Intestine Large	intestine
21	chr1:62460000-62516400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:62460000-62544600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:62460200-62487600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:62460200-62516000	Weak transcription	HMEC	breast
25	chr1:62461800-62479000	Weak transcription	Psoas Muscle	Psoas
26	chr1:62466400-62494200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:62469000-62533600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:62469800-62488000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:62473000-62488200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:62473800-62487000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:62474000-62479000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:62474200-62518600	Weak transcription	Primary T cells from cord blood	blood
33	chr1:62476600-62479000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:62477400-62479400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:62478000-62479000	Enhancers	Brain Germinal Matrix	brain
36	chr1:62478400-62479400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:62478600-62479200	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:62478600-62479400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:62478600-62479400	Enhancers	Fetal Muscle Leg	muscle
40	chr1:62478600-62479400	Enhancers	Ovary	ovary
41	chr1:62478600-62479400	Enhancers	Stomach Smooth Muscle	stomach
42	chr1:62478600-62479600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr1:62478600-62480000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:62478800-62479000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr1:62478800-62479200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr1:62478800-62479200	Enhancers	Brain Anterior Caudate	brain
47	chr1:62478800-62479200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr1:62478800-62479400	Enhancers	Fetal Kidney	kidney

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