Variant report

Variant	rs16901734
Chromosome Location	chr8:127840041-127840042
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	chr8:127834592..127842945-chr8:128745185..128752445,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136997	Chromatin interaction
ENSG00000249375	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10106550	0.85[AMR][1000 genomes]
rs10216500	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10216660	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10216757	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10216925	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10216939	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10505487	0.85[AMR][1000 genomes]
rs10505488	0.85[AMR][1000 genomes]
rs10505489	0.85[AMR][1000 genomes]
rs11987858	0.81[AMR][1000 genomes]
rs11989801	0.81[AMR][1000 genomes]
rs12547157	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16901776	0.85[AMR][1000 genomes]
rs16901778	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16901783	0.85[AMR][1000 genomes]
rs16901785	0.85[AMR][1000 genomes]
rs1873184	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1873185	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28409662	0.85[AMR][1000 genomes]
rs28617317	0.85[AMR][1000 genomes]
rs6983290	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6984670	0.81[AMR][1000 genomes]
rs6993972	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6998093	0.85[AMR][1000 genomes]
rs7005373	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7012160	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7016582	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7016606	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72722244	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72722245	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7813029	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7816751	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891438	chr8:127670339-127845702	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv1819408	chr8:127835876-127898165	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:127837400-127840200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:127837400-127840400	Weak transcription	Left Ventricle	heart
3	chr8:127837400-127840600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:127837400-127841200	Enhancers	Fetal Heart	heart
5	chr8:127837400-127841400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:127837400-127841400	Enhancers	Fetal Muscle Leg	muscle
7	chr8:127837400-127842800	Enhancers	NHLF	lung
8	chr8:127837400-127843800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:127837600-127840400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:127837600-127840400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:127837600-127840400	Weak transcription	Right Atrium	heart
12	chr8:127837600-127841200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:127837600-127841400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:127837800-127840400	Enhancers	HSMMtube	muscle
15	chr8:127837800-127845600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:127837800-127845800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr8:127837800-127845800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:127838000-127840200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:127838000-127840200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:127838000-127840200	Weak transcription	NHDF-Ad	bronchial
21	chr8:127838000-127840400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:127838000-127845400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr8:127838000-127845400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:127838200-127845400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:127839200-127840400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:127839200-127840400	Enhancers	HSMM	muscle
27	chr8:127839200-127840400	Enhancers	NHEK	skin
28	chr8:127839200-127841000	Enhancers	Placenta	Placenta
29	chr8:127839200-127841200	Enhancers	NH-A	brain
30	chr8:127839200-127843400	Enhancers	HUVEC	blood vessel
31	chr8:127839400-127841000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:127839400-127841400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:127839400-127841800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr8:127839600-127840800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:127839600-127840800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:127839600-127840800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr8:127839600-127841000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:127839600-127841000	Enhancers	HMEC	breast
39	chr8:127839800-127840400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:127839800-127841000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:127839800-127841000	Enhancers	Fetal Stomach	stomach
42	chr8:127840000-127840200	Flanking Active TSS	Osteobl	bone
43	chr8:127840000-127840600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:127840000-127840600	Enhancers	Fetal Intestine Small	intestine
45	chr8:127840000-127840600	Enhancers	Fetal Kidney	kidney
46	chr8:127840000-127840800	Enhancers	Fetal Lung	lung
47	chr8:127840000-127841000	Enhancers	Fetal Thymus	thymus
48	chr8:127840000-127842200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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