Variant report

Variant	rs35474183
Chromosome Location	chr2:63982523-63982524
allele	C/T
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	TCF12	chr2:63982320-63983622	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr2:63982480-63982630	NHLF	lung:	n/a	n/a

Variant related genes	Relation type
HNRNPA1P66	TF binding region

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

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10183479	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11125981	0.88[AFR][1000 genomes]
rs11558741	0.88[ASN][1000 genomes]
rs11674020	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11677338	0.80[AFR][1000 genomes]
rs11683408	0.81[ASN][1000 genomes]
rs11686956	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11691987	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11694253	0.87[ASN][1000 genomes]
rs11695421	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11883518	0.81[ASN][1000 genomes]
rs12713498	0.88[ASN][1000 genomes]
rs12991311	0.84[AFR][1000 genomes]
rs12996866	0.88[ASN][1000 genomes]
rs13006124	0.87[AFR][1000 genomes]
rs13018690	0.85[ASN][1000 genomes]
rs13431781	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1440002	0.87[ASN][1000 genomes]
rs17562177	0.87[ASN][1000 genomes]
rs17619717	0.83[AFR][1000 genomes]
rs17619753	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2302808	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34122334	0.85[ASN][1000 genomes]
rs35002211	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36033991	0.87[ASN][1000 genomes]
rs4538187	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4671071	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6546029	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6546030	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6546032	0.88[ASN][1000 genomes]
rs6546033	0.87[ASN][1000 genomes]
rs6546035	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66980330	0.88[ASN][1000 genomes]
rs6715992	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67308158	0.88[ASN][1000 genomes]
rs6731508	0.88[ASN][1000 genomes]
rs6732746	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6742187	0.89[AFR][1000 genomes]
rs6755646	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67615384	0.85[ASN][1000 genomes]
rs67765474	0.87[ASN][1000 genomes]
rs72808243	0.85[ASN][1000 genomes]
rs7590399	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7597935	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834242	chr2:63891249-64045617	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63973000-63992800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:63973200-63990400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:63975200-63990200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:63976400-64028600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:63976600-63983200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:63981600-63982600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:63981800-63982600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:63982000-63982600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:63982000-63982600	Enhancers	Ovary	ovary
10	chr2:63982200-63982600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:63982200-63982600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:63982200-63982600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:63982200-63982600	Enhancers	Adipose Nuclei	Adipose
14	chr2:63982200-63982600	Enhancers	Psoas Muscle	Psoas
15	chr2:63982200-63982800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:63982200-63982800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:63982200-63984400	Enhancers	Osteobl	bone
18	chr2:63982400-63982600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:63982400-63982600	Flanking Active TSS	NHLF	lung
20	chr2:63982400-63983000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:63982400-63983000	Weak transcription	HSMM	muscle
22	chr2:63982400-63983200	Flanking Active TSS	NHDF-Ad	bronchial
23	chr2:63982400-63984000	Enhancers	NH-A	brain
24	chr2:63982400-63984000	Enhancers	NHEK	skin

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