Variant report

Variant	rs17194770
Chromosome Location	chr8:130996692-130996693
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130995016..130997568-chr8:131000713..131003679,2	MCF-7	breast:
2	chr8:130996585..131001100-chr8:131002410..131006763,8	K562	blood:
3	chr8:130950694..130953984-chr8:130995818..130999558,3	MCF-7	breast:
4	chr8:130995347..130998330-chr8:130998727..131000228,2	MCF-7	breast:
5	chr8:130994958..130999216-chr8:131005349..131009996,7	MCF-7	breast:
6	chr8:130951032..130953275-chr8:130994834..130996903,2	K562	blood:

Variant related genes	Relation type
ENSG00000153310	Chromatin interaction
ENSG00000253720	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10088317	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10092658	1.00[CEU][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111220	1.00[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112738	1.00[ASN][1000 genomes]
rs10481174	1.00[ASN][1000 genomes]
rs11774834	1.00[LWK][hapmap]
rs11777289	1.00[MKK][hapmap]
rs11778460	1.00[LWK][hapmap]
rs11782152	1.00[LWK][hapmap]
rs1349847	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes]
rs16904182	1.00[CEU][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16904183	1.00[CEU][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs17194407	1.00[CEU][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194571	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17279655	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28411256	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28682439	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4639572	1.00[LWK][hapmap]
rs66523355	0.82[EUR][1000 genomes]
rs7016402	1.00[AFR][1000 genomes]
rs72718397	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718400	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720304	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72720337	0.82[EUR][1000 genomes]
rs72720346	1.00[AFR][1000 genomes]
rs72720350	1.00[AFR][1000 genomes]
rs72720351	1.00[AFR][1000 genomes]
rs72720353	1.00[AFR][1000 genomes]
rs7812685	1.00[ASN][1000 genomes]
rs7817091	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825122	1.00[ASN][1000 genomes]
rs7837729	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130986200-131003600	Weak transcription	Thymus	Thymus
2	chr8:130986400-130998400	Weak transcription	Fetal Thymus	thymus
3	chr8:130987400-130998200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:130988200-130997400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:130988400-130996800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:130989200-131000000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:130991000-130997400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr8:130991000-130997800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr8:130993400-131000200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:130994000-130997000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr8:130994200-130997000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:130994200-130998400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr8:130994200-130999200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:130994800-131001000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr8:130994800-131001600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr8:130995000-130997200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr8:130995400-130997400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr8:130995800-130996800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr8:130995800-130996800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:130995800-130996800	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr8:130995800-130996800	Enhancers	Left Ventricle	heart
22	chr8:130995800-130996800	Flanking Active TSS	HSMM	muscle
23	chr8:130995800-130997000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:130995800-130997000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr8:130995800-130997000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:130995800-130997000	Enhancers	Fetal Brain Male	brain
27	chr8:130995800-130997000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr8:130995800-130997000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr8:130995800-130997600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:130995800-130997800	Enhancers	Placenta	Placenta
31	chr8:130995800-130998400	Enhancers	Esophagus	oesophagus
32	chr8:130995800-130998400	Enhancers	Pancreas	Pancrea
33	chr8:130995800-130999200	Enhancers	Gastric	stomach
34	chr8:130995800-130999600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr8:130995800-131000200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:130996000-130996800	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr8:130996000-130997000	Enhancers	Fetal Heart	heart
38	chr8:130996000-130999000	Enhancers	Stomach Mucosa	stomach
39	chr8:130996000-131001400	Enhancers	Duodenum Mucosa	Duodenum
40	chr8:130996000-131001600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr8:130996200-130996800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:130996200-130996800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr8:130996200-130997000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr8:130996200-130997000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:130996200-130997000	Enhancers	Right Atrium	heart
46	chr8:130996200-130997000	Flanking Active TSS	A549	lung
47	chr8:130996200-130997000	Enhancers	HepG2	liver
48	chr8:130996200-130997000	Enhancers	NHLF	lung
49	chr8:130996200-130998400	Enhancers	Fetal Intestine Large	intestine
50	chr8:130996200-130999400	Enhancers	Primary B cells from cord blood	blood

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