Variant report

Variant	rs57528312
Chromosome Location	chr2:173361052-173361053
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173359691..173364040-chr2:173364971..173367986,4	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16860448	0.80[AFR][1000 genomes]
rs16860456	0.85[AMR][1000 genomes]
rs16860457	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16860507	0.82[AFR][1000 genomes]
rs16860522	0.82[AFR][1000 genomes]
rs16860527	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16860571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16860583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16860592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16860625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16860635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2737085	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57121932	1.00[AMR][1000 genomes]
rs60715604	1.00[AMR][1000 genomes]
rs61403555	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6715727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6741374	1.00[AMR][1000 genomes]
rs6754798	1.00[AMR][1000 genomes]
rs7557427	1.00[AMR][1000 genomes]
rs7588603	0.92[AFR][1000 genomes];0.85[AMR][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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173327800-173370800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:173329800-173371200	Weak transcription	Hela-S3	cervix
3	chr2:173330600-173371400	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:173330600-173372200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:173330600-173373200	Strong transcription	NHEK	skin
6	chr2:173330600-173373400	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:173330600-173373400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:173330600-173373600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:173330600-173374200	Weak transcription	Stomach Mucosa	stomach
10	chr2:173331000-173370000	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr2:173331000-173373200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:173331000-173373400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:173331000-173373800	Strong transcription	HMEC	breast
14	chr2:173331200-173372000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:173331400-173370200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:173346000-173370200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:173346000-173370200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:173346000-173370600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:173346400-173371400	Weak transcription	NHLF	lung
20	chr2:173347000-173367200	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:173347400-173368600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:173347800-173371600	Weak transcription	Fetal Brain Male	brain
23	chr2:173347800-173376200	Weak transcription	Fetal Heart	heart
24	chr2:173349400-173365200	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr2:173349400-173370400	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr2:173351200-173367800	Strong transcription	HSMMtube	muscle
27	chr2:173352000-173371400	Weak transcription	Fetal Brain Female	brain
28	chr2:173352000-173374200	Weak transcription	Fetal Lung	lung
29	chr2:173352400-173371400	Weak transcription	Psoas Muscle	Psoas
30	chr2:173353200-173368400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr2:173354000-173361200	Strong transcription	HepG2	liver
32	chr2:173354000-173370400	Weak transcription	Brain Angular Gyrus	brain
33	chr2:173354200-173369000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:173355800-173362200	Strong transcription	Fetal Intestine Small	intestine
35	chr2:173356000-173362000	Strong transcription	Adipose Nuclei	Adipose
36	chr2:173356400-173379200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:173356600-173371400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr2:173356600-173375400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr2:173356800-173364400	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr2:173356800-173369200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:173356800-173369200	Weak transcription	Brain Anterior Caudate	brain
42	chr2:173356800-173374600	Weak transcription	Fetal Kidney	kidney
43	chr2:173356800-173376000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:173356800-173376200	Weak transcription	Brain Substantia Nigra	brain
45	chr2:173357000-173368800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:173357000-173371000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:173357000-173371200	Weak transcription	Ovary	ovary
48	chr2:173357000-173373000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:173357000-173376000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:173357000-173376000	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links