Variant report

Variant	rs16860571
Chromosome Location	chr2:173360441-173360442
allele	A/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: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13429563	1.00[MEX][hapmap]
rs16860448	1.00[MEX][hapmap];1.00[MKK][hapmap];0.80[AFR][1000 genomes]
rs16860456	0.85[AMR][1000 genomes]
rs16860457	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16860507	0.82[AFR][1000 genomes]
rs16860522	0.82[AFR][1000 genomes]
rs16860527	0.86[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16860583	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16860592	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16860625	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16860635	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2737085	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57121932	1.00[AMR][1000 genomes]
rs57528312	1.00[AFR][1000 genomes];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[YRI][hapmap];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]
rs7603135	0.91[YRI][hapmap]

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:112 , 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	chr2:173345800-173360800	Strong transcription	Duodenum Mucosa	Duodenum
17	chr2:173346000-173360800	Strong transcription	HSMM	muscle
18	chr2:173346000-173370200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:173346000-173370200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:173346000-173370600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:173346400-173371400	Weak transcription	NHLF	lung
22	chr2:173347000-173367200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:173347400-173368600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:173347800-173371600	Weak transcription	Fetal Brain Male	brain
25	chr2:173347800-173376200	Weak transcription	Fetal Heart	heart
26	chr2:173349400-173360800	Strong transcription	Fetal Intestine Large	intestine
27	chr2:173349400-173365200	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr2:173349400-173370400	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr2:173350000-173360800	Weak transcription	GM12878-XiMat	blood
30	chr2:173351000-173360800	Weak transcription	Dnd41	blood
31	chr2:173351200-173360800	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr2:173351200-173367800	Strong transcription	HSMMtube	muscle
33	chr2:173351400-173360800	Strong transcription	HUVEC	blood vessel
34	chr2:173352000-173371400	Weak transcription	Fetal Brain Female	brain
35	chr2:173352000-173374200	Weak transcription	Fetal Lung	lung
36	chr2:173352400-173371400	Weak transcription	Psoas Muscle	Psoas
37	chr2:173353200-173368400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr2:173354000-173361200	Strong transcription	HepG2	liver
39	chr2:173354000-173370400	Weak transcription	Brain Angular Gyrus	brain
40	chr2:173354200-173369000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:173355800-173360600	Strong transcription	Colonic Mucosa	Colon
42	chr2:173355800-173362200	Strong transcription	Fetal Intestine Small	intestine
43	chr2:173356000-173361000	Strong transcription	Fetal Stomach	stomach
44	chr2:173356000-173361000	Strong transcription	Gastric	stomach
45	chr2:173356000-173362000	Strong transcription	Adipose Nuclei	Adipose
46	chr2:173356200-173360600	Strong transcription	Esophagus	oesophagus
47	chr2:173356200-173361000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:173356400-173379200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:173356600-173360800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:173356600-173371400	Weak transcription	Brain Inferior Temporal Lobe	brain

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