Variant report

Variant	rs13237344
Chromosome Location	chr7:66022256-66022257
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66021310..66024220-chr7:66204826..66206647,2	MCF-7	breast:
2	chr7:65590686..65593391-chr7:66020104..66022935,2	K562	blood:

Variant related genes	Relation type
ENSG00000241258	Chromatin interaction
ENSG00000243335	Chromatin interaction
ENSG00000272831	Chromatin interaction
ENSG00000154710	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1267816	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1267817	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1267818	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1267819	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1267820	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12698542	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13222887	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13224048	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13232193	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13235972	0.95[AFR][1000 genomes]
rs13236129	0.95[AFR][1000 genomes]
rs13237037	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13241548	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1618893	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1638731	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1638734	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1638736	0.86[ASN][1000 genomes]
rs1796215	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1796220	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1796228	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1796229	0.86[AMR][1000 genomes]
rs1882655	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1922723	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2141924	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2178742	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2420609	0.96[ASN][1000 genomes]
rs2533287	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2533288	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2659903	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2659911	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2659913	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2707823	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2707826	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2707828	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2707830	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2707831	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2707832	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2707833	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2707838	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2707840	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2707844	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34073431	0.96[ASN][1000 genomes]
rs34162778	0.95[AFR][1000 genomes]
rs34192067	0.95[AFR][1000 genomes]
rs34559676	0.95[AFR][1000 genomes]
rs34700450	0.95[AFR][1000 genomes]
rs34807232	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35261784	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35370033	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35823062	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35825036	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36104268	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3936	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58668827	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58669269	0.87[AFR][1000 genomes]
rs60326618	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6460312	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66630579	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71563118	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71563136	0.95[AFR][1000 genomes]
rs73135918	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73150635	0.95[ASN][1000 genomes]
rs778679	0.87[AFR][1000 genomes]
rs778683	0.87[AFR][1000 genomes]
rs778691	0.95[AFR][1000 genomes]
rs778693	0.95[AFR][1000 genomes]
rs778701	0.95[AFR][1000 genomes]
rs778704	0.95[AFR][1000 genomes]
rs778732	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv888326	chr7:65825257-66066999	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv482441	chr7:65885824-66061788	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	esv3447484	chr7:65909457-66033145	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv3377926	chr7:65934493-66051484	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	nsv888327	chr7:65938980-66029429	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	esv3423847	chr7:65941210-66054107	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs13237344	GUSB	cis	Whole Blood	GTEx
rs13237344	VKORC1L1	Cis_1M	lymphoblastoid	RTeQTL
rs13237344	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs13237344	VKORC1L1	cis	Whole Blood	GTEx
rs13237344	ASL	cis	multi-tissue	Pritchard
rs13237344	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs13237344	RP4-756H11.3	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65999800-66022400	Strong transcription	Fetal Stomach	stomach
2	chr7:66001400-66022400	Weak transcription	Stomach Mucosa	stomach
3	chr7:66003800-66022800	Strong transcription	Fetal Intestine Small	intestine
4	chr7:66004400-66052600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:66004800-66037200	Weak transcription	Psoas Muscle	Psoas
6	chr7:66005200-66022400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr7:66006200-66022400	Strong transcription	Lung	lung
8	chr7:66006200-66022600	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:66006200-66024400	Strong transcription	Fetal Muscle Leg	muscle
10	chr7:66006200-66024400	Strong transcription	Thymus	Thymus
11	chr7:66006400-66022800	Strong transcription	Brain Germinal Matrix	brain
12	chr7:66006600-66022800	Weak transcription	Fetal Brain Male	brain
13	chr7:66008400-66022600	Weak transcription	Fetal Heart	heart
14	chr7:66008600-66056000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:66008800-66022400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:66008800-66022400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr7:66008800-66022600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr7:66009000-66022800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:66009000-66023000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:66009000-66031400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:66009200-66023600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:66009200-66029400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:66011000-66037000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:66011600-66045000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:66012400-66024600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:66012600-66022600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:66012600-66022600	Strong transcription	Liver	Liver
28	chr7:66012600-66024200	Strong transcription	Dnd41	blood
29	chr7:66013000-66031800	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr7:66013200-66022400	Strong transcription	Ovary	ovary
31	chr7:66013200-66022600	Strong transcription	Placenta	Placenta
32	chr7:66013200-66022600	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr7:66014200-66022400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr7:66014200-66022600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:66014400-66022600	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:66014400-66024400	Strong transcription	Fetal Brain Female	brain
37	chr7:66014600-66022400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:66014800-66022400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:66017000-66022800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr7:66017200-66022600	Strong transcription	Primary hematopoietic stem cells	blood
41	chr7:66017800-66022400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr7:66017800-66022600	Strong transcription	NHEK	skin
43	chr7:66017800-66023000	Strong transcription	Osteobl	bone
44	chr7:66018000-66023200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:66018400-66029000	Weak transcription	Primary B cells from cord blood	blood
46	chr7:66019000-66023200	Weak transcription	HMEC	breast
47	chr7:66019200-66022400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:66019400-66022400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr7:66019400-66024000	Strong transcription	NHLF	lung
50	chr7:66019600-66022400	Weak transcription	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links