Variant report

Variant	rs4664313
Chromosome Location	chr2:160971437-160971438
allele	A/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	FOXA2	chr2:160971227-160971652	A549	lung:	n/a	n/a
2	FOXA2	chr2:160971366-160971671	A549	lung:	n/a	n/a
3	FOXA1	chr2:160971315-160971527	HepG2	liver:	n/a	n/a
4	FOXA1	chr2:160971248-160971585	HepG2	liver:	n/a	n/a
5	FOXA1	chr2:160971257-160971522	HepG2	liver:	n/a	n/a
6	FOXA2	chr2:160971330-160971486	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:160969263..160971954-chr2:161084180..161086609,2	MCF-7	breast:

Variant related genes	Relation type
ITGB6	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10497208	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10929970	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10929971	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11885142	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11895959	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11897691	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11902965	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12476618	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13027372	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1457235	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1457237	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1457238	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16844824	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1902622	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2061290	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2357861	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34064895	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34955537	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35271738	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35720878	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35859214	0.81[ASN][1000 genomes]
rs3796103	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4265965	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4426486	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4580348	0.89[ASN][1000 genomes]
rs4664314	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4664315	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4665160	0.81[EUR][1000 genomes]
rs6432600	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6432601	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6432602	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6758074	0.80[AFR][1000 genomes]
rs7422400	0.83[ASN][1000 genomes]
rs7558296	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7563574	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7568816	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7569555	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7579481	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7584446	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7608267	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs897832	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459929	chr2:160963603-161079435	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv583497	chr2:160963603-161079435	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875346	chr2:160965335-161044155	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1001502	chr2:160967864-161079450	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:160954600-160993000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr2:160957400-160981200	Weak transcription	Lung	lung
3	chr2:160959200-161004200	Weak transcription	Gastric	stomach
4	chr2:160959400-160985200	Weak transcription	Esophagus	oesophagus
5	chr2:160959400-161032800	Weak transcription	Psoas Muscle	Psoas
6	chr2:160964200-160993600	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:160964400-160993600	Weak transcription	Fetal Intestine Large	intestine
8	chr2:160966400-160980200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:160967200-160979000	Weak transcription	HSMM	muscle
10	chr2:160968600-160977400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:160969000-160983000	Weak transcription	Fetal Intestine Small	intestine
12	chr2:160969200-160982000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:160970800-160971600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr2:160970800-160977600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:160970800-160977600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:160970800-160978200	Weak transcription	NHEK	skin
17	chr2:160971000-160977600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:160971000-160977600	Weak transcription	HMEC	breast
19	chr2:160971000-160982200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:160971000-160993800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:160971200-160971800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:160971400-160982400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:160971400-160982400	Weak transcription	Rectal Mucosa Donor 31	rectum

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