Variant report

Variant	rs12730869
Chromosome Location	chr1:211811431-211811432
allele	A/C
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	SMARCC1	chr1:211811409-211812476	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211747427..211749600-chr1:211810215..211812897,2	K562	blood:
2	chr1:211805954..211807830-chr1:211810555..211812059,2	K562	blood:

Variant related genes	Relation type
ENSG00000227764	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10157989	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11577181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580557	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11590554	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12239534	0.95[ASN][1000 genomes]
rs12711504	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12711505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12711506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12711507	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12749444	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12751564	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12755496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756676	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17017855	1.00[ASN][1000 genomes]
rs34028707	0.95[ASN][1000 genomes]
rs4345851	0.81[ASN][1000 genomes]
rs4399227	0.81[ASN][1000 genomes]
rs4562684	0.81[ASN][1000 genomes]
rs4951414	0.85[ASN][1000 genomes]
rs4951417	0.90[ASN][1000 genomes]
rs4951420	0.86[ASN][1000 genomes]
rs6540692	0.81[ASN][1000 genomes]
rs7529914	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765202	0.81[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:40 , 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	chr1:211806800-211811600	Weak transcription	Fetal Intestine Large	intestine
4	chr1:211806800-211813000	Weak transcription	Stomach Mucosa	stomach
5	chr1:211807000-211811600	Weak transcription	Esophagus	oesophagus
6	chr1:211807000-211812000	Weak transcription	Adipose Nuclei	Adipose
7	chr1:211807000-211816200	Weak transcription	Colonic Mucosa	Colon
8	chr1:211807000-211816200	Weak transcription	Ovary	ovary
9	chr1:211807200-211812000	Weak transcription	NHLF	lung
10	chr1:211807200-211816600	Weak transcription	Right Ventricle	heart
11	chr1:211807200-211817200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:211807400-211812200	Weak transcription	NH-A	brain
13	chr1:211807400-211816800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:211807600-211811600	Weak transcription	Liver	Liver
15	chr1:211807600-211812800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:211807600-211812800	Weak transcription	Pancreas	Pancrea
17	chr1:211807600-211813000	Weak transcription	HSMMtube	muscle
18	chr1:211807600-211816600	Weak transcription	Left Ventricle	heart
19	chr1:211809400-211813000	Enhancers	A549	lung
20	chr1:211809800-211813000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:211810000-211811600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:211810200-211811600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:211810200-211812000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:211810200-211812000	Weak transcription	HMEC	breast
25	chr1:211810200-211812000	Weak transcription	NHDF-Ad	bronchial
26	chr1:211810200-211812200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:211810200-211813000	Weak transcription	HSMM	muscle
28	chr1:211810400-211812000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:211810600-211812000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:211810600-211816400	Weak transcription	Spleen	Spleen
31	chr1:211810800-211811800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:211810800-211812000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:211810800-211812000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:211810800-211812000	Weak transcription	Osteobl	bone
35	chr1:211810800-211812200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:211811000-211812000	Weak transcription	HUVEC	blood vessel
37	chr1:211811200-211811600	Weak transcription	HepG2	liver
38	chr1:211811200-211813600	Enhancers	Placenta	Placenta
39	chr1:211811400-211812600	Flanking Active TSS	Hela-S3	cervix
40	chr1:211811400-211829600	Enhancers	Fetal Intestine Small	intestine

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