Variant report

Variant	rs57178647
Chromosome Location	chr17:64470089-64470090
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:64469791..64472744-chr17:64498119..64500242,2	MCF-7	breast:
2	chr17:64297915..64299525-chr17:64468520..64470563,2	MCF-7	breast:
3	chr17:64461760..64465917-chr17:64467345..64470667,4	MCF-7	breast:
4	chr17:64463940..64466394-chr17:64469579..64472207,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154229	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11869711	0.92[ASN][1000 genomes]
rs17771145	0.92[ASN][1000 genomes]
rs1860659	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34488708	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58134548	0.92[ASN][1000 genomes]
rs59920126	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60283766	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62070448	0.92[ASN][1000 genomes]
rs62070449	0.92[ASN][1000 genomes]
rs62070451	0.92[ASN][1000 genomes]
rs62070454	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62070455	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62070456	1.00[ASN][1000 genomes]
rs7207499	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8079085	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061581	chr17:64389183-64477328	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1057876	chr17:64401469-64802341	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
3	nsv543407	chr17:64401469-64802341	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1064970	chr17:64410784-64486268	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv457882	chr17:64410915-64471675	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv575896	chr17:64410915-64471675	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv457883	chr17:64410915-64510410	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv575897	chr17:64410915-64510410	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv457887	chr17:64410915-64518507	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv575898	chr17:64410915-64518507	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1062365	chr17:64411424-64482886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv543408	chr17:64411424-64482886	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv817351	chr17:64420296-64742555	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv948353	chr17:64454960-64619767	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv948335	chr17:64454960-64745690	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr17:64460600-64470600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:64462600-64471600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:64464800-64472400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr17:64465000-64481400	Weak transcription	Primary T cells from cord blood	blood
5	chr17:64465200-64470600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr17:64465200-64470600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr17:64465400-64470400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr17:64465400-64470400	Weak transcription	Pancreas	Pancrea
9	chr17:64465400-64470800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr17:64465400-64471200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr17:64465400-64472800	Weak transcription	Stomach Mucosa	stomach
12	chr17:64465400-64489000	Weak transcription	Gastric	stomach
13	chr17:64465400-64492400	Weak transcription	Aorta	Aorta
14	chr17:64466000-64470200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr17:64466000-64470600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr17:64466200-64470200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:64466200-64470200	Weak transcription	HepG2	liver
18	chr17:64466200-64470400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:64466200-64470600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr17:64466200-64471000	Weak transcription	Brain Hippocampus Middle	brain
21	chr17:64466200-64471400	Weak transcription	Osteobl	bone
22	chr17:64466200-64472400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr17:64466200-64477400	Weak transcription	Colon Smooth Muscle	Colon
24	chr17:64466400-64471400	Weak transcription	NHDF-Ad	bronchial
25	chr17:64466800-64472200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr17:64466800-64485200	Weak transcription	HSMM	muscle
27	chr17:64467000-64470800	Weak transcription	K562	blood
28	chr17:64467000-64471800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr17:64467200-64487200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr17:64467600-64470200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr17:64467600-64470600	Weak transcription	NHLF	lung
32	chr17:64467600-64470800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr17:64467600-64476000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr17:64467600-64487000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr17:64467600-64487200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr17:64468000-64471800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr17:64468000-64472000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr17:64468400-64470400	Weak transcription	Fetal Kidney	kidney
39	chr17:64468400-64470600	Weak transcription	Brain Angular Gyrus	brain
40	chr17:64468600-64470200	Weak transcription	Fetal Intestine Large	intestine
41	chr17:64468600-64470400	Weak transcription	Fetal Intestine Small	intestine
42	chr17:64468600-64472400	Weak transcription	Lung	lung
43	chr17:64468600-64487000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr17:64468800-64470600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr17:64468800-64470600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr17:64468800-64472000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr17:64468800-64473000	Enhancers	A549	lung
48	chr17:64469000-64470600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr17:64469000-64472800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr17:64469000-64481600	Weak transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links