Variant report

Variant	rs3099401
Chromosome Location	chr8:95485531-95485532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95484510..95486991-chr8:95494041..95495783,2	MCF-7	breast:
2	chr8:95476965..95478534-chr8:95484970..95486977,2	K562	blood:
3	chr8:95459676..95462011-chr8:95483979..95486791,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10087254	0.80[EUR][1000 genomes]
rs10087503	0.80[EUR][1000 genomes]
rs10095298	0.80[EUR][1000 genomes]
rs1011249	0.81[EUR][1000 genomes]
rs10216902	0.87[EUR][1000 genomes]
rs10808669	0.80[EUR][1000 genomes]
rs10956913	0.80[EUR][1000 genomes]
rs10956914	0.80[EUR][1000 genomes]
rs1379246	0.81[ASN][1000 genomes]
rs1561648	0.84[EUR][1000 genomes]
rs1580498	0.89[EUR][1000 genomes]
rs1992371	0.85[EUR][1000 genomes]
rs2028428	0.85[EUR][1000 genomes]
rs2043987	0.84[EUR][1000 genomes]
rs2046665	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2046666	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2119460	0.84[ASN][1000 genomes]
rs2246066	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2381886	0.80[EUR][1000 genomes]
rs2445721	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2450558	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2450572	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2450578	0.83[ASN][1000 genomes]
rs2470728	0.81[ASN][1000 genomes]
rs2470731	0.81[ASN][1000 genomes]
rs2470732	0.81[ASN][1000 genomes]
rs2470735	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2470739	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2470740	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2470742	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2470746	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2515098	0.81[ASN][1000 genomes]
rs2515099	0.80[ASN][1000 genomes]
rs2515100	0.83[ASN][1000 genomes]
rs2515153	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2515154	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2515155	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2515156	0.81[ASN][1000 genomes]
rs2515161	0.81[ASN][1000 genomes]
rs2515165	0.81[ASN][1000 genomes]
rs2919654	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2919660	0.84[EUR][1000 genomes]
rs2919662	0.84[EUR][1000 genomes]
rs2919663	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2919665	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2919666	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2919672	0.82[EUR][1000 genomes]
rs2919673	0.82[EUR][1000 genomes]
rs2921385	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2921387	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2921388	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2921389	0.84[EUR][1000 genomes]
rs2930958	0.82[EUR][1000 genomes]
rs2930959	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2930962	0.82[EUR][1000 genomes]
rs2930967	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2930968	0.84[EUR][1000 genomes]
rs2930969	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2930970	0.84[EUR][1000 genomes]
rs3019154	0.82[EUR][1000 genomes]
rs3019279	0.82[EUR][1000 genomes]
rs3098703	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3098725	0.86[ASN][1000 genomes]
rs3099397	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3099398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3099403	0.86[ASN][1000 genomes]
rs3099404	0.85[ASN][1000 genomes]
rs3099406	0.86[ASN][1000 genomes]
rs3102853	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3133635	0.86[ASN][1000 genomes]
rs4735294	0.83[EUR][1000 genomes]
rs6980687	0.87[EUR][1000 genomes]
rs6999103	0.80[EUR][1000 genomes]
rs9297939	0.80[EUR][1000 genomes]
rs935052	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv1835971	chr8:95467241-95490541	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95449400-95486200	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:95450000-95486000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:95454000-95485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:95455600-95486200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:95462000-95486400	Weak transcription	Primary B cells from cord blood	blood
6	chr8:95464400-95485800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:95468600-95485800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:95469000-95485600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:95469000-95486000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:95470600-95485800	Weak transcription	Fetal Thymus	thymus
11	chr8:95472400-95486400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr8:95472800-95486600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:95474800-95486200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr8:95475200-95486800	Weak transcription	Gastric	stomach
15	chr8:95475800-95486800	Weak transcription	Aorta	Aorta
16	chr8:95476200-95486200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:95477200-95485600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:95478800-95486200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr8:95479400-95486000	Weak transcription	Fetal Stomach	stomach
20	chr8:95479400-95486000	Weak transcription	Thymus	Thymus
21	chr8:95480000-95486200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr8:95480400-95485600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:95480600-95485600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr8:95480600-95485600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:95480600-95485600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:95480600-95485600	Weak transcription	Primary T cells from cord blood	blood
27	chr8:95480800-95485600	Weak transcription	NH-A	brain
28	chr8:95480800-95485600	Weak transcription	Osteobl	bone
29	chr8:95480800-95486000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:95480800-95486400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:95481200-95485600	Weak transcription	HMEC	breast
32	chr8:95481200-95486800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:95481600-95485800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr8:95481600-95486400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:95483000-95487800	Active TSS	GM12878-XiMat	blood
36	chr8:95484000-95486400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr8:95484200-95485600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:95484400-95485800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr8:95484600-95485800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:95484800-95485600	Enhancers	NHDF-Ad	bronchial
41	chr8:95484800-95485800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:95484800-95485800	Enhancers	Hela-S3	cervix
43	chr8:95484800-95486000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr8:95484800-95486000	Enhancers	Fetal Lung	lung
45	chr8:95485000-95485600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:95485000-95485800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:95485000-95485800	Flanking Active TSS	K562	blood
48	chr8:95485000-95486000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:95485200-95485600	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr8:95485200-95485600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links