Variant report

Variant	rs10512423
Chromosome Location	chr17:20933755-20933756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:20930469..20933824-chr17:20936944..20940043,3	MCF-7	breast:
2	chr17:20930509..20934223-chr17:20943543..20949021,6	MCF-7	breast:
3	chr17:20932232..20934940-chr17:20938795..20941578,2	MCF-7	breast:
4	chr17:20923362..20925822-chr17:20932717..20934494,2	K562	blood:
5	chr17:20913654..20920338-chr17:20930133..20937587,8	K562	blood:

Variant related genes	Relation type
ENSG00000124422	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1045215	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs11204325	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs11204329	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11204331	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11541311	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11650623	0.82[CEU][hapmap]
rs11651500	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11652224	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11653213	0.80[AMR][1000 genomes]
rs11653504	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654801	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11655512	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs11655985	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11656662	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11656874	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11657155	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11658178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11658671	0.81[ASN][1000 genomes]
rs11658722	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs11658742	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs11869271	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11870338	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16942330	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16962375	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16962469	0.84[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap]
rs2009757	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2291035	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2364323	1.00[LWK][hapmap]
rs3785544	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3891644	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs55675922	0.86[AMR][1000 genomes]
rs62056764	0.81[ASN][1000 genomes]
rs62056768	0.80[AMR][1000 genomes]
rs62056770	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62056771	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62056832	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62058987	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62058990	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62058991	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62058993	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62059000	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62059001	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs716959	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7217797	0.83[CEU][hapmap];0.82[CHB][hapmap];0.80[AMR][1000 genomes]
rs7218520	0.92[CHB][hapmap];0.81[CHD][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs7224752	0.82[ASN][1000 genomes]
rs8079468	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9905095	1.00[CHB][hapmap]
rs9914432	0.84[CEU][hapmap];1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv529759	chr17:20839079-21529632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv827917	chr17:20896100-20961777	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20901400-20937000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr17:20901800-20936800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr17:20902000-20935400	Strong transcription	Dnd41	blood
4	chr17:20903400-20940000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:20903600-20938400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr17:20923000-20943800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr17:20926200-20934200	Strong transcription	K562	blood
8	chr17:20929600-20933800	Weak transcription	HSMMtube	muscle
9	chr17:20929800-20935200	Weak transcription	Fetal Kidney	kidney
10	chr17:20930200-20935600	Strong transcription	GM12878-XiMat	blood
11	chr17:20930600-20935400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:20931400-20934000	Enhancers	Right Atrium	heart
13	chr17:20931600-20935400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr17:20931600-20937600	Enhancers	Brain Substantia Nigra	brain
15	chr17:20931800-20934000	Enhancers	Ovary	ovary
16	chr17:20931800-20934400	Enhancers	Colon Smooth Muscle	Colon
17	chr17:20931800-20935200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr17:20931800-20935400	Enhancers	Fetal Heart	heart
19	chr17:20931800-20936600	Weak transcription	HUVEC	blood vessel
20	chr17:20931800-20937000	Genic enhancers	HSMM	muscle
21	chr17:20931800-20940200	Enhancers	Brain Cingulate Gyrus	brain
22	chr17:20932000-20933800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr17:20932000-20934000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr17:20932000-20934000	Enhancers	Psoas Muscle	Psoas
25	chr17:20932000-20934000	Enhancers	Spleen	Spleen
26	chr17:20932000-20934000	Enhancers	HMEC	breast
27	chr17:20932000-20934000	Enhancers	NHDF-Ad	bronchial
28	chr17:20932000-20935000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:20932000-20935000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr17:20932000-20935200	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr17:20932000-20935400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr17:20932000-20935600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr17:20932000-20936400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr17:20932000-20936400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr17:20932000-20936600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr17:20932000-20937400	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr17:20932000-20937400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr17:20932000-20937400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr17:20932000-20938000	Enhancers	Brain Hippocampus Middle	brain
40	chr17:20932200-20933800	Weak transcription	Primary B cells from cord blood	blood
41	chr17:20932200-20933800	Enhancers	Rectal Smooth Muscle	rectum
42	chr17:20932200-20934000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr17:20932200-20934000	Enhancers	Liver	Liver
44	chr17:20932200-20934000	Enhancers	NH-A	brain
45	chr17:20932200-20934000	Enhancers	NHEK	skin
46	chr17:20932200-20934400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr17:20932200-20934600	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr17:20932200-20935000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr17:20932200-20935200	Enhancers	Fetal Lung	lung
50	chr17:20932200-20936000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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