Variant report

Variant	rs1126472
Chromosome Location	chr6:12125772-12125773
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:12124826-12127028	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:12120206-12127200	K562	blood:	n/a	n/a

Variant related genes	Relation type
HIVEP1	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs219946	0.88[AMR][1000 genomes]
rs2228220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3734271	0.86[JPT][hapmap]
rs3777754	0.86[JPT][hapmap]
rs3777758	0.86[JPT][hapmap]
rs3777762	0.86[JPT][hapmap]
rs3777769	0.86[JPT][hapmap]
rs3777770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3777771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3822926	0.86[JPT][hapmap]
rs4407714	0.96[ASN][1000 genomes]
rs72826090	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7751398	0.86[JPT][hapmap]
rs9357278	0.91[YRI][hapmap]
rs9380831	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9394541	0.86[JPT][hapmap]
rs9394551	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][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	nsv870443	chr6:12096356-12125998	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12091000-12130600	Weak transcription	Psoas Muscle	Psoas
2	chr6:12116000-12128000	Weak transcription	Fetal Heart	heart
3	chr6:12117200-12136800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr6:12118400-12138400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:12118800-12131400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:12119400-12126000	Strong transcription	Fetal Muscle Leg	muscle
7	chr6:12119400-12126200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:12119400-12129800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:12119600-12126800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:12119800-12138800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr6:12120000-12128800	Strong transcription	Liver	Liver
12	chr6:12120200-12126000	Strong transcription	Left Ventricle	heart
13	chr6:12120200-12126000	Strong transcription	HUVEC	blood vessel
14	chr6:12120200-12129000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:12120400-12126000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:12120400-12126000	Strong transcription	HepG2	liver
17	chr6:12120400-12126200	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr6:12120400-12126600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:12120400-12128200	Strong transcription	HSMM	muscle
20	chr6:12120400-12129000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr6:12121400-12128000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr6:12121400-12128000	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr6:12121400-12150200	Weak transcription	Fetal Brain Male	brain
24	chr6:12121600-12136800	Weak transcription	Hela-S3	cervix
25	chr6:12122000-12134600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr6:12122000-12136600	Weak transcription	Osteobl	bone
27	chr6:12122000-12138200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:12122200-12128400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr6:12122200-12132200	Weak transcription	A549	lung
30	chr6:12122200-12132200	Weak transcription	NHLF	lung
31	chr6:12122200-12137600	Weak transcription	Brain Anterior Caudate	brain
32	chr6:12122200-12137600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:12122200-12137600	Weak transcription	Brain Substantia Nigra	brain
34	chr6:12122200-12137800	Weak transcription	HMEC	breast
35	chr6:12122200-12138600	Weak transcription	Colonic Mucosa	Colon
36	chr6:12122200-12138600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr6:12122200-12138600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr6:12122200-12138800	Weak transcription	Ovary	ovary
39	chr6:12122200-12138800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr6:12122200-12139000	Weak transcription	Spleen	Spleen
41	chr6:12122200-12139200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr6:12122200-12161800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr6:12122400-12126200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:12122400-12126800	Strong transcription	GM12878-XiMat	blood
45	chr6:12122400-12130600	Weak transcription	Pancreas	Pancrea
46	chr6:12122400-12136400	Weak transcription	Small Intestine	intestine
47	chr6:12122400-12138200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr6:12122400-12138600	Weak transcription	Lung	lung
49	chr6:12122400-12139200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:12122400-12139200	Weak transcription	Placenta	Placenta

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