Variant report

Variant	rs10074499
Chromosome Location	chr8:17146154-17146155
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:17140191..17142110-chr8:17143983..17147187,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10940680	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188986	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12517333	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2329660	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4867017	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4867200	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1032219	chr8:16560990-17291715	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv1844500	chr8:17079438-17161374	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv831245	chr8:17113083-17308408	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	esv1803161	chr8:17135287-17155811	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv890556	chr8:17135287-17344157	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv610675	chr8:17137687-17155432	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:17114400-17157200	Weak transcription	Stomach Mucosa	stomach
2	chr8:17121800-17170600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:17122000-17152000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:17124000-17149400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:17124000-17162400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:17124400-17147600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr8:17125000-17164200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:17125200-17161000	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:17125400-17146800	Strong transcription	Dnd41	blood
10	chr8:17125600-17163600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:17125800-17162000	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr8:17126000-17148600	Strong transcription	Liver	Liver
13	chr8:17126600-17148200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr8:17126600-17148400	Strong transcription	Placenta	Placenta
15	chr8:17126600-17160200	Strong transcription	Duodenum Mucosa	Duodenum
16	chr8:17126800-17146600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:17130600-17148200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:17130600-17160600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:17131200-17149800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:17131400-17148400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:17131400-17148800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:17131400-17150200	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr8:17131400-17174600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr8:17131600-17147200	Strong transcription	Adipose Nuclei	Adipose
25	chr8:17131600-17154000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr8:17131800-17146400	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr8:17131800-17146400	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr8:17131800-17146800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr8:17131800-17147000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:17131800-17154200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:17131800-17154200	Strong transcription	Fetal Thymus	thymus
32	chr8:17131800-17162000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr8:17131800-17162400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr8:17131800-17162600	Strong transcription	Fetal Intestine Large	intestine
35	chr8:17132200-17146600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:17132200-17148600	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:17132200-17152400	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:17133200-17151200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:17133200-17151200	Weak transcription	Gastric	stomach
40	chr8:17133600-17167800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr8:17134800-17148400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr8:17136400-17146200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:17137600-17146200	Strong transcription	Brain Anterior Caudate	brain
44	chr8:17138000-17146400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:17138000-17148200	Strong transcription	Primary B cells from cord blood	blood
46	chr8:17138200-17152000	Weak transcription	K562	blood
47	chr8:17140200-17147600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:17140400-17146600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:17141000-17151000	Weak transcription	Esophagus	oesophagus
50	chr8:17141400-17147200	Strong transcription	H1 Cell Line	embryonic stem cell

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