Variant report

Variant	rs4968463
Chromosome Location	chr17:60032650-60032651
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:60003458..60007739-chr17:60031552..60035376,4	MCF-7	breast:
2	chr17:60032435..60034452-chr17:60142134..60143728,2	MCF-7	breast:
3	chr17:60025468..60027726-chr17:60030336..60032845,3	K562	blood:

Variant related genes	Relation type
ENSG00000108506	Chromatin interaction
ENSG00000108510	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10512492	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11079459	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12450560	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12451910	0.85[AMR][1000 genomes]
rs12452094	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12452732	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12452742	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12600620	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12600909	0.90[AMR][1000 genomes]
rs12604037	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16945692	0.83[AMR][1000 genomes]
rs16945753	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16945756	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16945759	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16945801	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2271576	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2278812	0.88[ASN][1000 genomes]
rs28654524	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3744434	0.95[AMR][1000 genomes]
rs3809753	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3826419	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4410139	0.92[EUR][1000 genomes]
rs4968408	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4968451	0.81[AMR][1000 genomes]
rs4968454	0.83[AMR][1000 genomes]
rs4968460	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs4968461	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4968462	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4968464	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4968467	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4968468	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4968470	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56794817	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs57137451	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57746689	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58241345	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58335059	0.88[ASN][1000 genomes]
rs58624595	0.91[AMR][1000 genomes]
rs59080342	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs60053512	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61469058	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61658218	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7218724	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7221089	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72843781	0.81[ASN][1000 genomes]
rs73332565	0.82[AMR][1000 genomes]
rs73332598	0.91[AMR][1000 genomes]
rs73334621	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73336436	0.82[EUR][1000 genomes]
rs8065778	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8066964	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8074890	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8080599	0.83[AMR][1000 genomes]
rs8081917	0.91[AMR][1000 genomes]
rs9630735	0.83[AMR][1000 genomes]
rs9630736	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv916786	chr17:59890834-60103687	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60017600-60033800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr17:60017800-60033600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr17:60017800-60050400	Strong transcription	Adipose Nuclei	Adipose
4	chr17:60018000-60046800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr17:60018000-60072800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr17:60018000-60073400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:60018200-60034400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr17:60018400-60034000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:60018400-60034000	Strong transcription	Placenta	Placenta
10	chr17:60018600-60047000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr17:60018600-60047200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr17:60018600-60072600	Strong transcription	Fetal Thymus	thymus
13	chr17:60018800-60073600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr17:60019000-60040000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr17:60019200-60051600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr17:60019600-60033800	Strong transcription	NH-A	brain
17	chr17:60019600-60034200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr17:60019600-60050600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr17:60020200-60050400	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr17:60020400-60050600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr17:60020400-60073200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr17:60020600-60034000	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr17:60020600-60034000	Strong transcription	Primary B cells from cord blood	blood
24	chr17:60020600-60034000	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr17:60020600-60043400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr17:60020600-60047200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr17:60020600-60073000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr17:60020800-60033600	Strong transcription	Fetal Lung	lung
29	chr17:60020800-60034000	Strong transcription	HSMM	muscle
30	chr17:60020800-60051800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr17:60020800-60073800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr17:60021000-60033600	Strong transcription	Primary hematopoietic stem cells	blood
33	chr17:60021000-60033800	Strong transcription	HMEC	breast
34	chr17:60021000-60034200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr17:60021000-60047600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr17:60021000-60050200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr17:60021200-60033800	Strong transcription	Osteobl	bone
38	chr17:60021200-60034000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr17:60021200-60043600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr17:60021200-60097000	Strong transcription	Dnd41	blood
41	chr17:60021400-60033200	Strong transcription	NHDF-Ad	bronchial
42	chr17:60021800-60034200	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr17:60021800-60052400	Strong transcription	HepG2	liver
44	chr17:60021800-60073600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr17:60022000-60032800	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr17:60022000-60033000	Strong transcription	Rectal Smooth Muscle	rectum
47	chr17:60022000-60033800	Strong transcription	Fetal Brain Female	brain
48	chr17:60022000-60033800	Strong transcription	K562	blood
49	chr17:60022000-60034200	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr17:60022000-60035800	Strong transcription	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links