Variant report

Variant	rs12747344
Chromosome Location	chr1:155927212-155927213
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155926397..155928797-chr1:155930464..155932499,2	K562	blood:
2	chr1:155926416..155928811-chr1:155936912..155940499,3	K562	blood:
3	chr1:155925431..155929052-chr1:155938942..155941749,4	K562	blood:
4	chr1:155919232..155923454-chr1:155925537..155928294,6	K562	blood:
5	chr1:155910241..155913815-chr1:155925549..155931886,5	K562	blood:
6	chr1:155921230..155923744-chr1:155926059..155928194,3	K562	blood:
7	chr1:155926889..155928740-chr1:155934359..155936673,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173080	Chromatin interaction
ENSG00000116584	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1010033	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs1018730	1.00[CEU][hapmap];0.94[TSI][hapmap];0.99[EUR][1000 genomes]
rs1055184	1.00[CEU][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs10908485	0.99[EUR][1000 genomes]
rs11264421	0.93[EUR][1000 genomes]
rs12039053	0.99[EUR][1000 genomes]
rs12138833	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs1544119	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs1749407	0.91[EUR][1000 genomes]
rs1749408	0.85[EUR][1000 genomes]
rs1749409	1.00[CEU][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs1765275	0.85[CEU][hapmap];0.99[EUR][1000 genomes]
rs1964951	0.97[EUR][1000 genomes]
rs2275079	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2275081	1.00[CEU][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs2364402	0.99[EUR][1000 genomes]
rs2364404	1.00[CEU][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs28379575	0.97[EUR][1000 genomes]
rs2886069	0.99[EUR][1000 genomes]
rs34802187	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35138477	0.84[EUR][1000 genomes]
rs35374730	0.97[EUR][1000 genomes]
rs35588936	0.89[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs35730001	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3768280	1.00[CEU][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs4412586	0.97[EUR][1000 genomes]
rs4661160	0.99[EUR][1000 genomes]
rs4661162	1.00[CEU][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs4661170	0.97[EUR][1000 genomes]
rs4661172	1.00[CEU][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs493446	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs506688	1.00[CEU][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs527113	1.00[CEU][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs536870	0.97[EUR][1000 genomes]
rs572609	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs605025	1.00[CEU][hapmap];0.94[TSI][hapmap];0.99[EUR][1000 genomes]
rs6660802	1.00[CEU][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs6667096	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs708614	0.97[EUR][1000 genomes]
rs71628697	0.99[EUR][1000 genomes]
rs71628699	0.85[EUR][1000 genomes]
rs822502	0.89[EUR][1000 genomes]
rs822503	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs822519	1.00[CEU][hapmap]
rs822653	0.97[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155905000-155945600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:155911200-155940000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:155914800-155929600	Strong transcription	Muscle Satellite Cultured Cells	--
4	chr1:155914800-155929800	Strong transcription	Fetal Stomach	stomach
5	chr1:155914800-155930200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:155914800-155931600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:155915200-155927400	Strong transcription	Brain Anterior Caudate	brain
8	chr1:155915200-155930600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:155915200-155936800	Strong transcription	Fetal Brain Female	brain
10	chr1:155915200-155937000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:155915800-155929600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:155915800-155929600	Strong transcription	HMEC	breast
13	chr1:155915800-155929800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:155915800-155929800	Strong transcription	HSMMtube	muscle
15	chr1:155915800-155930000	Strong transcription	Left Ventricle	heart
16	chr1:155915800-155930400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:155915800-155930400	Strong transcription	Osteobl	bone
18	chr1:155915800-155930600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:155915800-155931600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:155915800-155935200	Strong transcription	Brain Germinal Matrix	brain
21	chr1:155915800-155936600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:155916000-155930600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:155916000-155931400	Strong transcription	HUVEC	blood vessel
24	chr1:155916000-155937000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:155916200-155929800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:155916200-155929800	Strong transcription	Stomach Smooth Muscle	stomach
27	chr1:155916200-155930200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:155916200-155931600	Weak transcription	Right Atrium	heart
29	chr1:155916200-155932400	Strong transcription	Colon Smooth Muscle	Colon
30	chr1:155916200-155937000	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:155916400-155929000	Strong transcription	Placenta	Placenta
32	chr1:155916400-155929400	Strong transcription	Brain Cingulate Gyrus	brain
33	chr1:155916400-155930400	Strong transcription	Adipose Nuclei	Adipose
34	chr1:155916400-155930600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:155916400-155931800	Strong transcription	Lung	lung
36	chr1:155916400-155936200	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:155916400-155936400	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr1:155916400-155936600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:155916400-155937200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:155916400-155937400	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:155916600-155930000	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:155916600-155932400	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:155916600-155935800	Strong transcription	Fetal Intestine Small	intestine
44	chr1:155916600-155937000	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:155916600-155937200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:155916800-155927400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:155916800-155931600	Strong transcription	Colonic Mucosa	Colon
48	chr1:155916800-155932400	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr1:155916800-155937000	Strong transcription	Thymus	Thymus
50	chr1:155917000-155931800	Strong transcription	Rectal Mucosa Donor 29	rectum

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