Variant report

Variant	rs17042975
Chromosome Location	chr1:216769935-216769936
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:216765465..216768393-chr1:216768731..216771064,2	MCF-7	breast:
2	chr1:216739850..216740707-chr1:216769423..216770025,2	MCF-7	breast:
3	chr1:216768575..216772450-chr1:216772804..216775706,3	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11117620	1.00[AMR][1000 genomes]
rs11572623	1.00[MEX][hapmap]
rs1498275	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549199	chr1:216384908-216814702	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1003815	chr1:216504235-216836498	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv535289	chr1:216504235-216836498	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv873178	chr1:216714314-216813244	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216721800-216774000	Weak transcription	Placenta	Placenta
2	chr1:216757400-216773600	Weak transcription	Fetal Intestine Small	intestine
3	chr1:216764800-216773400	Weak transcription	Brain Substantia Nigra	brain
4	chr1:216767800-216770000	Enhancers	Fetal Heart	heart
5	chr1:216768800-216770200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:216769000-216770000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:216769000-216770000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr1:216769200-216770000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:216769200-216770000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:216769200-216770000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:216769200-216770000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:216769200-216770200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:216769200-216770200	Active TSS	Fetal Lung	lung
14	chr1:216769200-216770400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:216769400-216770000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr1:216769400-216770000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:216769400-216770000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:216769400-216770000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:216769400-216770000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:216769400-216770000	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr1:216769400-216770000	Enhancers	Fetal Kidney	kidney
22	chr1:216769400-216770000	Enhancers	Left Ventricle	heart
23	chr1:216769400-216770000	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr1:216769400-216770000	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr1:216769400-216770200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr1:216769400-216770200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:216769600-216770000	Active TSS	Brain Cingulate Gyrus	brain
28	chr1:216769600-216770000	Active TSS	Brain Hippocampus Middle	brain
29	chr1:216769800-216770000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr1:216769800-216770600	Weak transcription	Brain Angular Gyrus	brain
31	chr1:216769800-216771000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:216769800-216773200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:216769800-216773400	Weak transcription	Brain Anterior Caudate	brain
34	chr1:216769800-216773800	Weak transcription	Fetal Intestine Large	intestine

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