Variant report

Variant	rs16867491
Chromosome Location	chr2:182607544-182607545
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:182607223..182607959-chr2:182768811..182769453,2	K562	blood:
2	chr2:182605218..182608264-chr2:182780802..182783897,3	MCF-7	breast:
3	chr2:182607527..182610447-chr2:182747720..182749531,2	MCF-7	breast:
4	chr2:182606253..182607776-chr2:182773643..182775218,2	MCF-7	breast:
5	chr2:182606279..182608776-chr2:182713164..182714678,2	K562	blood:
6	chr2:182606478..182612379-chr2:182941539..182945973,8	MCF-7	breast:
7	chr2:182607345..182608208-chr2:182768471..182769386,3	MCF-7	breast:
8	chr2:182607060..182610718-chr2:182648609..182651704,3	MCF-7	breast:
9	chr2:182604791..182607790-chr2:182728158..182730587,2	MCF-7	breast:
10	chr2:182607324..182607987-chr2:182942180..182942981,3	MCF-7	breast:
11	chr2:182601728..182612786-chr2:182754371..182769481,60	MCF-7	breast:
12	chr2:182607223..182608203-chr2:182942222..182943013,3	K562	blood:
13	chr2:182607320..182608150-chr2:182997133..182997648,2	MCF-7	breast:
14	chr2:182607039..182609775-chr2:182996269..182999208,3	MCF-7	breast:
15	chr2:182607273..182609890-chr2:182817856..182820250,2	MCF-7	breast:
16	chr2:182606279..182609235-chr2:182713164..182715694,2	K562	blood:
17	chr2:182607474..182608685-chr2:182942088..182942772,3	MCF-7	breast:
18	chr2:182601328..182613741-chr2:182753153..182773539,79	MCF-7	breast:
19	chr2:182607212..182608217-chr2:182818942..182819975,3	K562	blood:
20	chr2:182604086..182610331-chr2:182940196..182944056,7	MCF-7	breast:
21	chr2:182607104..182609304-chr2:182780495..182782555,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000150722	Chromatin interaction
ENSG00000260742	Chromatin interaction
ENSG00000138434	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10175898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10188644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497584	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12613662	1.00[ASN][1000 genomes]
rs12616753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12616757	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12616809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12617923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12619962	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12623595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12996195	0.87[ASN][1000 genomes]
rs1372130	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1441158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1441159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867481	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16867489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867495	1.00[YRI][hapmap]
rs2583004	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583005	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696332	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2696333	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2696338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696341	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696346	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28394061	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28464322	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28589860	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2859677	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28654292	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28718983	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2950649	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57227873	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58618231	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7590839	0.84[ASN][1000 genomes]
rs8192554	0.91[EUR][1000 genomes]
rs832643	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182606000-182608400	Enhancers	HSMM	muscle
2	chr2:182606200-182607600	Enhancers	Fetal Heart	heart
3	chr2:182606200-182608600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:182606200-182608600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:182606200-182608600	Enhancers	Osteobl	bone
6	chr2:182606200-182608800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:182606200-182609000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:182606200-182609200	Enhancers	Hela-S3	cervix
9	chr2:182606600-182608000	Weak transcription	HSMMtube	muscle
10	chr2:182606600-182608600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:182607200-182607800	Flanking Active TSS	Liver	Liver
12	chr2:182607200-182608800	Enhancers	NHLF	lung
13	chr2:182607400-182607800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr2:182607400-182608000	Weak transcription	Fetal Intestine Small	intestine
15	chr2:182607400-182608000	Enhancers	Fetal Kidney	kidney
16	chr2:182607400-182608200	Enhancers	Brain Anterior Caudate	brain
17	chr2:182607400-182608200	Enhancers	Brain Hippocampus Middle	brain
18	chr2:182607400-182608200	Enhancers	Duodenum Mucosa	Duodenum
19	chr2:182607400-182608200	Enhancers	Dnd41	blood
20	chr2:182607400-182608600	Enhancers	A549	lung
21	chr2:182607400-182608800	Enhancers	Stomach Mucosa	stomach
22	chr2:182607400-182608800	Enhancers	HepG2	liver
23	chr2:182607400-182608800	Enhancers	NH-A	brain
24	chr2:182607400-182609000	Enhancers	HMEC	breast
25	chr2:182607400-182609200	Enhancers	NHEK	skin

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