Variant report

Variant	rs2357635
Chromosome Location	chr2:173358225-173358226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173356812..173359740-chr2:173361584..173364656,4	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10193201	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10460364	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11898288	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1319059	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17664	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2357634	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2737086	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3108778	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35968313	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4246629	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4972834	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4972835	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5015856	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55978548	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62167825	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6433362	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6710725	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6715425	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6723030	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6730905	0.81[EUR][1000 genomes]
rs6749369	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6759316	0.81[EUR][1000 genomes]
rs7560501	0.81[EUR][1000 genomes]
rs7570417	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7575064	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[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: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	chr2:173330400-173360400	Weak transcription	Small Intestine	intestine
4	chr2:173330600-173371400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:173330600-173372200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:173330600-173373200	Strong transcription	NHEK	skin
7	chr2:173330600-173373400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:173330600-173373400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:173330600-173373600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:173330600-173374200	Weak transcription	Stomach Mucosa	stomach
11	chr2:173331000-173370000	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr2:173331000-173373200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:173331000-173373400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:173331000-173373800	Strong transcription	HMEC	breast
15	chr2:173331200-173372000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:173331400-173370200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:173337800-173360200	Strong transcription	Fetal Thymus	thymus
18	chr2:173343000-173360200	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:173345800-173359800	Weak transcription	Placenta	Placenta
20	chr2:173345800-173360800	Strong transcription	Duodenum Mucosa	Duodenum
21	chr2:173346000-173360800	Strong transcription	HSMM	muscle
22	chr2:173346000-173370200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:173346000-173370200	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:173346000-173370600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:173346400-173371400	Weak transcription	NHLF	lung
26	chr2:173347000-173367200	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:173347400-173368600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:173347800-173371600	Weak transcription	Fetal Brain Male	brain
29	chr2:173347800-173376200	Weak transcription	Fetal Heart	heart
30	chr2:173349400-173360200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:173349400-173360200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:173349400-173360800	Strong transcription	Fetal Intestine Large	intestine
33	chr2:173349400-173365200	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr2:173349400-173370400	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr2:173349800-173360000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:173350000-173360800	Weak transcription	GM12878-XiMat	blood
37	chr2:173350800-173359200	Strong transcription	Thymus	Thymus
38	chr2:173351000-173360800	Weak transcription	Dnd41	blood
39	chr2:173351200-173359400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:173351200-173360400	Strong transcription	Primary hematopoietic stem cells	blood
41	chr2:173351200-173360800	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr2:173351200-173367800	Strong transcription	HSMMtube	muscle
43	chr2:173351400-173360800	Strong transcription	HUVEC	blood vessel
44	chr2:173351800-173359000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:173352000-173358600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:173352000-173371400	Weak transcription	Fetal Brain Female	brain
47	chr2:173352000-173374200	Weak transcription	Fetal Lung	lung
48	chr2:173352400-173371400	Weak transcription	Psoas Muscle	Psoas
49	chr2:173353200-173358400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr2:173353200-173368400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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