Variant report

Variant	rs4275914
Chromosome Location	chr17:16928299-16928300
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16922760..16926151-chr17:16927403..16930298,5	K562	blood:
2	chr17:16924719..16926363-chr17:16928237..16932446,3	MCF-7	breast:
3	chr17:16922760..16925384-chr17:16927836..16930121,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10852847	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11078374	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11656868	1.00[CHB][hapmap]
rs11867934	0.82[EUR][1000 genomes]
rs11871902	1.00[CHB][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2090018	1.00[ASN][1000 genomes]
rs2271520	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];0.92[TSI][hapmap];1.00[ASN][1000 genomes]
rs2349646	1.00[ASN][1000 genomes]
rs28461224	1.00[ASN][1000 genomes]
rs35904868	0.81[AFR][1000 genomes]
rs4247118	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4247120	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4514740	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4985696	1.00[ASN][1000 genomes]
rs4985701	1.00[ASN][1000 genomes]
rs4985702	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];0.92[TSI][hapmap];1.00[ASN][1000 genomes]
rs4985717	1.00[ASN][1000 genomes]
rs4985718	0.88[EUR][1000 genomes]
rs4985740	1.00[CHB][hapmap];0.82[GIH][hapmap];0.82[TSI][hapmap];1.00[ASN][1000 genomes]
rs4985746	1.00[ASN][1000 genomes]
rs4985778	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502563	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7206981	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7207485	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7208929	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7208973	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7217091	1.00[CHB][hapmap];0.82[GIH][hapmap];0.88[TSI][hapmap];1.00[ASN][1000 genomes]
rs7221842	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7222311	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8064550	0.86[GIH][hapmap];0.88[TSI][hapmap];1.00[ASN][1000 genomes]
rs8072184	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8073842	1.00[CHB][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8079563	1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9893911	1.00[ASN][1000 genomes]
rs9898995	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9908767	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9914671	1.00[ASN][1000 genomes]

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	nsv1058863	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv543227	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv907727	chr17:16892265-16938582	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv543231	chr17:16926227-16950644	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16918800-16930800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr17:16922800-16928800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr17:16923800-16929000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr17:16923800-16929000	Weak transcription	NHEK	skin
5	chr17:16924200-16929000	Weak transcription	Lung	lung
6	chr17:16925000-16930800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr17:16925200-16930600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr17:16925200-16931000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr17:16925400-16928400	Weak transcription	Fetal Lung	lung
10	chr17:16925400-16929000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr17:16925400-16930800	Weak transcription	NH-A	brain
12	chr17:16925400-16931000	Enhancers	A549	lung
13	chr17:16925600-16930800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr17:16925600-16930800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr17:16925600-16931800	Weak transcription	Osteobl	bone
16	chr17:16925800-16929400	Enhancers	Fetal Intestine Small	intestine
17	chr17:16925800-16930600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr17:16925800-16930800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr17:16926000-16928600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr17:16926000-16928600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:16926000-16930600	Weak transcription	Esophagus	oesophagus
22	chr17:16926000-16930600	Weak transcription	HMEC	breast
23	chr17:16926000-16930800	Weak transcription	Colonic Mucosa	Colon
24	chr17:16926000-16930800	Weak transcription	Spleen	Spleen
25	chr17:16926000-16931400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:16926200-16928600	Weak transcription	HSMM	muscle
27	chr17:16926200-16930800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr17:16926400-16928400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr17:16926600-16928400	Weak transcription	HSMMtube	muscle
30	chr17:16926600-16931400	Weak transcription	Brain Angular Gyrus	brain
31	chr17:16926600-16931400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr17:16926800-16929000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr17:16926800-16930800	Weak transcription	Brain Anterior Caudate	brain
34	chr17:16926800-16930800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr17:16926800-16931200	Weak transcription	Brain Substantia Nigra	brain
36	chr17:16927400-16928800	Weak transcription	Fetal Intestine Large	intestine
37	chr17:16927800-16929200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr17:16927800-16929400	Enhancers	Placenta Amnion	Placenta Amnion
39	chr17:16927800-16929600	Enhancers	Fetal Heart	heart
40	chr17:16928000-16928400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr17:16928000-16928600	Enhancers	Adipose Nuclei	Adipose
42	chr17:16928000-16929000	Enhancers	Right Ventricle	heart
43	chr17:16928000-16929400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr17:16928000-16929400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr17:16928000-16929400	Enhancers	Fetal Stomach	stomach
46	chr17:16928000-16929800	Enhancers	Fetal Muscle Leg	muscle
47	chr17:16928000-16929800	Enhancers	Pancreas	Pancrea
48	chr17:16928000-16930000	Enhancers	Fetal Muscle Trunk	muscle
49	chr17:16928000-16930600	Enhancers	Hela-S3	cervix
50	chr17:16928200-16928600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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