Variant report

Variant	rs11576130
Chromosome Location	chr1:211808851-211808852
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF3C2	chr1:211808656-211810403	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211807063..211809288-chr1:211816053..211818328,2	K562	blood:
2	chr1:211805499..211810389-chr1:211816053..211819078,4	K562	blood:
3	chr1:211794683..211796296-chr1:211806280..211809015,2	MCF-7	breast:
4	chr1:211808019..211810498-chr1:211819976..211822363,2	K562	blood:
5	chr1:211788189..211791176-chr1:211807791..211810721,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000227764	TF binding region
ENSG00000228792	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11119778	0.96[ASN][1000 genomes]
rs12087826	0.96[ASN][1000 genomes]
rs12090722	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1530400	0.89[ASN][1000 genomes]
rs6540697	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660850	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6673372	0.87[EUR][1000 genomes]
rs6675796	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6682640	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7516924	0.81[EUR][1000 genomes]
rs7551341	0.87[ASN][1000 genomes]
rs7553718	0.87[ASN][1000 genomes]
rs7554315	0.89[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	nsv1010919	chr1:211804252-211823073	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211804200-211813400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:211804200-211816600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:211804400-211809400	Enhancers	Hela-S3	cervix
4	chr1:211806800-211809200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:211806800-211809600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:211806800-211809600	Weak transcription	Fetal Intestine Small	intestine
7	chr1:211806800-211811600	Weak transcription	Fetal Intestine Large	intestine
8	chr1:211806800-211813000	Weak transcription	Stomach Mucosa	stomach
9	chr1:211807000-211809600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:211807000-211810600	Weak transcription	Placenta	Placenta
11	chr1:211807000-211811600	Weak transcription	Esophagus	oesophagus
12	chr1:211807000-211812000	Weak transcription	Adipose Nuclei	Adipose
13	chr1:211807000-211816200	Weak transcription	Colonic Mucosa	Colon
14	chr1:211807000-211816200	Weak transcription	Ovary	ovary
15	chr1:211807200-211809400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:211807200-211809400	Weak transcription	HSMM	muscle
17	chr1:211807200-211809600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:211807200-211809800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:211807200-211812000	Weak transcription	NHLF	lung
20	chr1:211807200-211816600	Weak transcription	Right Ventricle	heart
21	chr1:211807200-211817200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:211807400-211809400	Weak transcription	A549	lung
23	chr1:211807400-211810000	Weak transcription	Spleen	Spleen
24	chr1:211807400-211812200	Weak transcription	NH-A	brain
25	chr1:211807400-211816800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:211807600-211811600	Weak transcription	Liver	Liver
27	chr1:211807600-211812800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:211807600-211812800	Weak transcription	Pancreas	Pancrea
29	chr1:211807600-211813000	Weak transcription	HSMMtube	muscle
30	chr1:211807600-211816600	Weak transcription	Left Ventricle	heart
31	chr1:211807800-211809600	Weak transcription	HMEC	breast
32	chr1:211808000-211809400	Weak transcription	HepG2	liver
33	chr1:211808000-211810000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:211808200-211809200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:211808200-211809400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:211808200-211809400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:211808600-211810800	Enhancers	Osteobl	bone
38	chr1:211808800-211810600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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