Variant report

Variant	rs16860642
Chromosome Location	chr2:173371170-173371171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16860412	0.81[YRI][hapmap]
rs16860437	0.88[YRI][hapmap];0.84[AFR][1000 genomes]
rs16860458	1.00[EUR][1000 genomes]
rs16860523	1.00[EUR][1000 genomes]
rs16860538	1.00[EUR][1000 genomes]
rs55725007	1.00[EUR][1000 genomes]
rs57421082	1.00[EUR][1000 genomes]
rs57897500	1.00[EUR][1000 genomes]
rs58293015	1.00[EUR][1000 genomes]
rs59165764	1.00[EUR][1000 genomes]
rs61737182	1.00[EUR][1000 genomes]
rs73034637	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73034655	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046924	1.00[EUR][1000 genomes]
rs73980435	1.00[EUR][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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173329800-173371200	Weak transcription	Hela-S3	cervix
2	chr2:173330600-173371400	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:173330600-173372200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:173330600-173373200	Strong transcription	NHEK	skin
5	chr2:173330600-173373400	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:173330600-173373400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:173330600-173373600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:173330600-173374200	Weak transcription	Stomach Mucosa	stomach
9	chr2:173331000-173373200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:173331000-173373400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:173331000-173373800	Strong transcription	HMEC	breast
12	chr2:173331200-173372000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:173346400-173371400	Weak transcription	NHLF	lung
14	chr2:173347800-173371600	Weak transcription	Fetal Brain Male	brain
15	chr2:173347800-173376200	Weak transcription	Fetal Heart	heart
16	chr2:173352000-173371400	Weak transcription	Fetal Brain Female	brain
17	chr2:173352000-173374200	Weak transcription	Fetal Lung	lung
18	chr2:173352400-173371400	Weak transcription	Psoas Muscle	Psoas
19	chr2:173356400-173379200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:173356600-173371400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:173356600-173375400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:173356800-173374600	Weak transcription	Fetal Kidney	kidney
23	chr2:173356800-173376000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:173356800-173376200	Weak transcription	Brain Substantia Nigra	brain
25	chr2:173357000-173371200	Weak transcription	Ovary	ovary
26	chr2:173357000-173373000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:173357000-173376000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:173357000-173376000	Weak transcription	Aorta	Aorta
29	chr2:173357200-173376600	Weak transcription	Right Ventricle	heart
30	chr2:173357600-173371400	Weak transcription	NH-A	brain
31	chr2:173357600-173376200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:173358000-173376200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:173359200-173371400	Weak transcription	Lung	lung
34	chr2:173359200-173372400	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:173360400-173371400	Weak transcription	Fetal Muscle Leg	muscle
36	chr2:173360800-173371800	Weak transcription	Thymus	Thymus
37	chr2:173361000-173375600	Weak transcription	Spleen	Spleen
38	chr2:173361200-173373600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr2:173361200-173375200	Weak transcription	GM12878-XiMat	blood
40	chr2:173361800-173373400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:173362600-173371200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:173362800-173372600	Weak transcription	Primary B cells from peripheral blood	blood
43	chr2:173362800-173372800	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr2:173363600-173372600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:173364600-173372000	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr2:173365400-173372600	Weak transcription	Pancreas	Pancrea
47	chr2:173365600-173373000	Weak transcription	Fetal Intestine Small	intestine
48	chr2:173365800-173372200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:173366200-173371200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:173366200-173374400	Strong transcription	HSMM	muscle

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