Variant report

Variant	rs1618893
Chromosome Location	chr7:66096119-66096120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66055516..66058509-chr7:66093670..66096346,2	MCF-7	breast:
2	chr7:66091898..66097382-chr7:66117985..66122507,10	K562	blood:

Variant related genes	Relation type
ENSG00000232559	Chromatin interaction
ENSG00000226824	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1267816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1267817	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1267818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1267819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1267820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12698542	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13222887	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13224048	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13232193	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13235282	1.00[AFR][1000 genomes]
rs13235972	1.00[AFR][1000 genomes]
rs13236129	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13237037	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13237344	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13237544	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs13241548	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13242216	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13247442	0.87[ASN][1000 genomes]
rs1573944	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1638731	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1638734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1638736	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1796215	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1796220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1796228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1796229	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1882655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1922723	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2141924	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2178742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2420609	0.82[ASN][1000 genomes]
rs2533287	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2533288	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2659903	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2659911	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2659913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2707823	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2707826	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2707828	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2707830	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2707831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2707832	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2707833	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2707838	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2707840	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2707844	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34073431	0.82[ASN][1000 genomes]
rs34162778	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs34192067	1.00[AFR][1000 genomes]
rs34559676	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs34700450	1.00[AFR][1000 genomes]
rs34807232	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35261784	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35315599	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs35370033	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35481333	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs35624856	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs35676956	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs35823062	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35825036	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35851021	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs36104268	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3800822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3936	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55849324	0.87[AFR][1000 genomes]
rs56675463	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs58668827	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58669269	0.91[AFR][1000 genomes]
rs59308022	0.91[AFR][1000 genomes]
rs60326618	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6460312	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66630579	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71535635	0.95[AFR][1000 genomes]
rs71563118	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71563136	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73135918	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73150635	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	esv2761151	chr7:66095738-66138285	Flanking Active TSS Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1618893	VKORC1L1	cis	Whole Blood	GTEx
rs1618893	GUSB	cis	Whole Blood	GTEx
rs1618893	ASL	cis	multi-tissue	Pritchard
rs1618893	RP4-756H11.3	cis	lung	GTEx
rs1618893	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66094400-66097000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr7:66094400-66097200	Flanking Active TSS	GM12878-XiMat	blood
3	chr7:66094400-66103200	Weak transcription	Small Intestine	intestine
4	chr7:66094600-66097800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:66094800-66096200	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr7:66094800-66096400	Enhancers	Primary B cells from cord blood	blood
7	chr7:66094800-66097000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr7:66094800-66097200	Enhancers	Fetal Thymus	thymus
9	chr7:66094800-66097600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr7:66094800-66097800	Enhancers	Primary hematopoietic stem cells	blood
11	chr7:66094800-66098200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:66094800-66098400	Enhancers	Primary B cells from peripheral blood	blood
13	chr7:66094800-66103400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:66095000-66096200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr7:66095000-66097000	Enhancers	Adipose Nuclei	Adipose
16	chr7:66095000-66097600	Enhancers	Dnd41	blood
17	chr7:66095000-66098000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:66095000-66098000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr7:66095000-66098200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:66095000-66098200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:66095000-66098200	Weak transcription	Ovary	ovary
22	chr7:66095000-66098200	Weak transcription	HSMMtube	muscle
23	chr7:66095000-66098400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:66095000-66099200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:66095000-66099400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:66095000-66099400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:66095000-66099400	Weak transcription	Aorta	Aorta
28	chr7:66095000-66099600	Weak transcription	A549	lung
29	chr7:66095000-66101000	Weak transcription	NHEK	skin
30	chr7:66095000-66102400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:66095000-66103000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr7:66095000-66103000	Weak transcription	Fetal Kidney	kidney
33	chr7:66095000-66103000	Weak transcription	Fetal Lung	lung
34	chr7:66095000-66103200	Weak transcription	Psoas Muscle	Psoas
35	chr7:66095000-66103400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr7:66095000-66103400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:66095000-66103400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr7:66095000-66104200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr7:66095000-66108800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:66095000-66109000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr7:66095000-66115200	Weak transcription	HMEC	breast
42	chr7:66095200-66096200	Enhancers	Primary T cells from cord blood	blood
43	chr7:66095200-66096200	Enhancers	Thymus	Thymus
44	chr7:66095200-66096200	Enhancers	NHLF	lung
45	chr7:66095200-66096800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:66095200-66096800	Enhancers	Osteobl	bone
47	chr7:66095200-66097000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:66095200-66097200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:66095200-66097200	Enhancers	Brain Anterior Caudate	brain
50	chr7:66095200-66098000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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