Variant report

Variant	rs1638734
Chromosome Location	chr7:66097539-66097540
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66096656..66098243-chr7:66117649..66119984,2	K562	blood:
2	chr7:66091920..66094757-chr7:66096200..66098462,2	K562	blood:

Variant related genes	Relation type
ENSG00000243335	Chromatin interaction
ENSG00000226824	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:75)

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	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1267818	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[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	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[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]
rs13247442	0.87[ASN][1000 genomes]
rs1573944	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1618893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1638731	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1638736	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[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[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[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]
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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1638734	RP4-756H11.3	cis	lung	GTEx
rs1638734	VKORC1L1	Cis_1M	lymphoblastoid	RTeQTL
rs1638734	GUSB	cis	Whole Blood	GTEx
rs1638734	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs1638734	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs1638734	ASL	cis	multi-tissue	Pritchard
rs1638734	VKORC1L1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66094400-66103200	Weak transcription	Small Intestine	intestine
2	chr7:66094600-66097800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr7:66094800-66097600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr7:66094800-66097800	Enhancers	Primary hematopoietic stem cells	blood
5	chr7:66094800-66098200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:66094800-66098400	Enhancers	Primary B cells from peripheral blood	blood
7	chr7:66094800-66103400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:66095000-66097600	Enhancers	Dnd41	blood
9	chr7:66095000-66098000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:66095000-66098000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr7:66095000-66098200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:66095000-66098200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:66095000-66098200	Weak transcription	Ovary	ovary
14	chr7:66095000-66098200	Weak transcription	HSMMtube	muscle
15	chr7:66095000-66098400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:66095000-66099200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:66095000-66099400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:66095000-66099400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr7:66095000-66099400	Weak transcription	Aorta	Aorta
20	chr7:66095000-66099600	Weak transcription	A549	lung
21	chr7:66095000-66101000	Weak transcription	NHEK	skin
22	chr7:66095000-66102400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:66095000-66103000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:66095000-66103000	Weak transcription	Fetal Kidney	kidney
25	chr7:66095000-66103000	Weak transcription	Fetal Lung	lung
26	chr7:66095000-66103200	Weak transcription	Psoas Muscle	Psoas
27	chr7:66095000-66103400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:66095000-66103400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:66095000-66103400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:66095000-66104200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:66095000-66108800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:66095000-66109000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr7:66095000-66115200	Weak transcription	HMEC	breast
34	chr7:66095200-66098000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:66095200-66098000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:66095200-66098000	Weak transcription	Fetal Intestine Small	intestine
37	chr7:66095200-66098200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:66095200-66098200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:66095200-66098200	Weak transcription	Fetal Intestine Large	intestine
40	chr7:66095200-66098400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr7:66095200-66098600	Weak transcription	Liver	Liver
42	chr7:66095200-66099000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:66095200-66099400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr7:66095200-66099400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:66095200-66099800	Weak transcription	Colonic Mucosa	Colon
46	chr7:66095200-66101000	Weak transcription	NHDF-Ad	bronchial
47	chr7:66095200-66103000	Weak transcription	Stomach Mucosa	stomach
48	chr7:66095200-66103200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr7:66095200-66118400	Weak transcription	Fetal Heart	heart
50	chr7:66095200-66118400	Weak transcription	HUVEC	blood vessel

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