Variant report

Variant	rs1319059
Chromosome Location	chr2:173353060-173353061
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	MAFK	chr2:173352919-173353176	HepG2	liver:	n/a	chr2:173353038-173353049 chr2:173353033-173353049 chr2:173353038-173353049 chr2:173353036-173353050

No.	Distal block	Cell Line	Cell type
1	chr2:173352292..173355193-chr2:173355588..173357472,2	K562	blood:
2	chr2:173351396..173353492-chr2:173418976..173421854,2	K562	blood:
3	chr2:173352359..173353981-chr2:173354286..173356904,2	MCF-7	breast:

Variant related genes	Relation type
ITGA6	TF binding region
ENSG00000152256	Chromatin interaction
ENSG00000225205	Chromatin interaction
ENSG00000091409	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10193201	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10460364	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11898288	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17664	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2357634	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2357635	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2737086	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3108778	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35968313	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4246629	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4972834	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4972835	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5015856	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55978548	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62167825	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6433362	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6710725	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6715425	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6723030	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6730905	0.83[EUR][1000 genomes]
rs6749369	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6759316	0.83[EUR][1000 genomes]
rs6759557	0.80[EUR][1000 genomes]
rs7560501	0.80[EUR][1000 genomes]
rs7570417	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7575064	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173321400-173356000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:173327200-173353200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:173327800-173370800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:173328800-173353400	Weak transcription	Right Ventricle	heart
5	chr2:173329800-173371200	Weak transcription	Hela-S3	cervix
6	chr2:173330400-173360400	Weak transcription	Small Intestine	intestine
7	chr2:173330600-173353200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:173330600-173353200	Weak transcription	Aorta	Aorta
9	chr2:173330600-173353400	Weak transcription	Fetal Stomach	stomach
10	chr2:173330600-173371400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:173330600-173372200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:173330600-173373200	Strong transcription	NHEK	skin
13	chr2:173330600-173373400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:173330600-173373400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:173330600-173373600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:173330600-173374200	Weak transcription	Stomach Mucosa	stomach
17	chr2:173331000-173370000	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr2:173331000-173373200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:173331000-173373400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:173331000-173373800	Strong transcription	HMEC	breast
21	chr2:173331200-173372000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:173331400-173370200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:173335400-173354000	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr2:173337800-173360200	Strong transcription	Fetal Thymus	thymus
25	chr2:173342600-173353600	Weak transcription	A549	lung
26	chr2:173343000-173360200	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:173344000-173356000	Weak transcription	Fetal Kidney	kidney
28	chr2:173345600-173353600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:173345800-173359800	Weak transcription	Placenta	Placenta
30	chr2:173345800-173360800	Strong transcription	Duodenum Mucosa	Duodenum
31	chr2:173346000-173354200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:173346000-173360800	Strong transcription	HSMM	muscle
33	chr2:173346000-173370200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:173346000-173370200	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:173346000-173370600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:173346400-173354000	Strong transcription	Fetal Intestine Small	intestine
37	chr2:173346400-173356000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:173346400-173371400	Weak transcription	NHLF	lung
39	chr2:173346600-173353200	Weak transcription	Ovary	ovary
40	chr2:173346600-173353400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:173346600-173356000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:173346600-173356000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:173346600-173357600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:173346800-173353200	Weak transcription	Brain Angular Gyrus	brain
45	chr2:173346800-173356000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr2:173347000-173353200	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:173347000-173367200	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:173347200-173353400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:173347400-173368600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:173347800-173371600	Weak transcription	Fetal Brain Male	brain

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