Variant report

Variant	rs57078491
Chromosome Location	chr17:64481250-64481251
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:64480731..64483627-chr17:64487190..64489494,2	MCF-7	breast:
2	chr17:64481034..64482790-chr17:64483483..64485161,2	MCF-7	breast:
3	chr17:64477366..64479963-chr17:64480345..64482193,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11869711	0.90[EUR][1000 genomes]
rs1473934	0.81[AFR][1000 genomes]
rs1514653	0.81[AFR][1000 genomes]
rs17771145	0.90[EUR][1000 genomes]
rs228870	0.89[AFR][1000 genomes]
rs228874	0.86[AFR][1000 genomes]
rs228878	0.83[AFR][1000 genomes]
rs228879	0.82[AFR][1000 genomes]
rs57037655	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58134548	0.90[EUR][1000 genomes]
rs62070448	0.89[EUR][1000 genomes]
rs62070449	0.88[EUR][1000 genomes]
rs62070451	0.90[EUR][1000 genomes]
rs62070456	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9907773	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:64465000-64481400	Weak transcription	Primary T cells from cord blood	blood
2	chr17:64465400-64489000	Weak transcription	Gastric	stomach
3	chr17:64465400-64492400	Weak transcription	Aorta	Aorta
4	chr17:64466800-64485200	Weak transcription	HSMM	muscle
5	chr17:64467200-64487200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr17:64467600-64487000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr17:64467600-64487200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr17:64468600-64487000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr17:64469000-64481600	Weak transcription	Fetal Thymus	thymus
10	chr17:64469600-64488800	Weak transcription	Spleen	Spleen
11	chr17:64471200-64483600	Weak transcription	Fetal Intestine Small	intestine
12	chr17:64471400-64481400	Weak transcription	Brain Hippocampus Middle	brain
13	chr17:64471400-64485600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr17:64471600-64481400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr17:64471600-64481400	Weak transcription	Brain Substantia Nigra	brain
16	chr17:64471800-64487000	Weak transcription	NHDF-Ad	bronchial
17	chr17:64472000-64487800	Weak transcription	NHLF	lung
18	chr17:64472200-64481800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr17:64472400-64481400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr17:64473200-64488800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr17:64474600-64487400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr17:64475600-64483600	Weak transcription	A549	lung
23	chr17:64476800-64487400	Weak transcription	Osteobl	bone
24	chr17:64477200-64486800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr17:64477400-64487400	Weak transcription	Small Intestine	intestine
26	chr17:64477600-64481400	Weak transcription	Brain Anterior Caudate	brain
27	chr17:64477600-64487200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr17:64477800-64481600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr17:64477800-64481800	Weak transcription	HepG2	liver
30	chr17:64477800-64482000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr17:64478000-64481400	Weak transcription	Brain Germinal Matrix	brain
32	chr17:64478000-64481600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr17:64478400-64481600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr17:64479000-64499000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr17:64480000-64482200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr17:64480000-64482200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr17:64480000-64482200	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr17:64480600-64483600	Weak transcription	Fetal Kidney	kidney
39	chr17:64480800-64482000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr17:64481000-64481800	Enhancers	K562	blood
41	chr17:64481000-64482000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr17:64481000-64482000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr17:64481200-64481400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr17:64481200-64481800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr17:64481200-64481800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr17:64481200-64481800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr17:64481200-64481800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr17:64481200-64481800	Enhancers	NH-A	brain
49	chr17:64481200-64482000	Enhancers	H1 Cell Line	embryonic stem cell
50	chr17:64481200-64482000	Enhancers	H9 Cell Line	embryonic stem cell

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