Variant report

Variant	rs2305290
Chromosome Location	chr8:100831294-100831295
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:100830481..100831331-chr8:100917701..100918387,3	MCF-7	breast:
2	chr8:100826690..100829197-chr8:100830445..100832595,2	MCF-7	breast:
3	chr8:100830643..100832009-chr8:100917034..100918311,5	MCF-7	breast:
4	chr8:100816318..100817114-chr8:100830770..100831325,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253912	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10955222	0.94[CHB][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1130569	0.94[CHB][hapmap];0.85[JPT][hapmap]
rs1135382	0.88[CHB][hapmap]
rs11987173	0.80[ASN][1000 genomes]
rs12541837	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12544943	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12545602	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12548827	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12548840	0.94[CHB][hapmap];0.85[JPT][hapmap]
rs13252579	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13253073	0.94[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13259066	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13264726	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13273257	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13277184	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs13280341	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs34029308	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35615286	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35935983	0.83[EUR][1000 genomes]
rs4076509	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4409375	0.94[CHB][hapmap];0.82[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4480092	0.94[CHB][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4510829	0.82[CHB][hapmap]
rs4626565	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs6468694	0.94[CHB][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6984511	0.84[ASN][1000 genomes]
rs6986006	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7015733	0.94[CHB][hapmap];0.85[JPT][hapmap]
rs7157	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7828241	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs7840626	0.94[CHB][hapmap];0.85[JPT][hapmap]
rs7844439	0.94[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2758167	chr8:100404151-100838624	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv2759633	chr8:100404151-100838624	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1033944	chr8:100737321-100916345	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv1830910	chr8:100791156-101114794	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100778400-100857800	Weak transcription	Spleen	Spleen
2	chr8:100783200-100841000	Weak transcription	Right Ventricle	heart
3	chr8:100783200-100858200	Weak transcription	Gastric	stomach
4	chr8:100783400-100857200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:100787800-100831600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:100789600-100842400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:100791400-100861600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr8:100798400-100846400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr8:100802000-100836400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:100804200-100832000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:100805000-100832000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:100807200-100857200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:100807400-100847800	Weak transcription	Liver	Liver
14	chr8:100809400-100839200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:100809400-100847600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:100811200-100857600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:100811400-100832600	Weak transcription	NH-A	brain
18	chr8:100814200-100872400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:100814600-100832200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:100816800-100836400	Weak transcription	Lung	lung
21	chr8:100816800-100843000	Weak transcription	Esophagus	oesophagus
22	chr8:100816800-100858000	Weak transcription	HSMM	muscle
23	chr8:100816800-100858200	Weak transcription	HSMMtube	muscle
24	chr8:100816800-100865800	Weak transcription	Left Ventricle	heart
25	chr8:100816800-100866200	Weak transcription	Pancreas	Pancrea
26	chr8:100817600-100872400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr8:100818400-100865800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:100819000-100865800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr8:100819400-100842200	Weak transcription	Fetal Kidney	kidney
30	chr8:100819800-100837000	Weak transcription	GM12878-XiMat	blood
31	chr8:100819800-100842400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr8:100820200-100844600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr8:100820200-100874000	Weak transcription	Colonic Mucosa	Colon
34	chr8:100821000-100847800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:100821800-100834400	Weak transcription	Fetal Thymus	thymus
36	chr8:100822200-100846200	Weak transcription	Aorta	Aorta
37	chr8:100822200-100865600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr8:100822600-100857600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr8:100822800-100831400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:100822800-100835600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr8:100823200-100844600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr8:100823800-100831400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr8:100823800-100849000	Weak transcription	Thymus	Thymus
44	chr8:100824200-100832000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:100824800-100839000	Weak transcription	Fetal Muscle Leg	muscle
46	chr8:100825800-100832200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:100826000-100836400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:100826000-100857400	Weak transcription	Dnd41	blood
49	chr8:100826000-100857800	Weak transcription	Osteobl	bone
50	chr8:100826200-100857600	Weak transcription	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links