Variant report

Variant	rs316318
Chromosome Location	chr7:65612904-65612905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:65612902-65613022	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:65612893-65613032	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65608461..65610824-chr7:65611925..65613549,2	MCF-7	breast:

Variant related genes	Relation type
CRCP	TF binding region

Extended variants
information (count: 153 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:149)

rs_ID	r²[population]
rs10247526	0.84[EUR][1000 genomes]
rs1061361	0.80[AMR][1000 genomes]
rs10807699	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10807701	0.85[EUR][1000 genomes]
rs10807702	0.85[EUR][1000 genomes]
rs10950032	0.85[EUR][1000 genomes]
rs12530490	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12667373	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13308751	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1392104	0.85[EUR][1000 genomes]
rs1499613	0.85[EUR][1000 genomes]
rs1499614	0.85[EUR][1000 genomes]
rs1532573	0.85[EUR][1000 genomes]
rs1546059	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1553174	0.85[EUR][1000 genomes]
rs160543	0.93[AMR][1000 genomes]
rs160637	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs160638	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs160639	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs160642	0.93[AMR][1000 genomes]
rs160643	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs160644	0.93[AMR][1000 genomes]
rs160646	0.93[AMR][1000 genomes]
rs160648	0.87[AMR][1000 genomes]
rs160649	0.87[AMR][1000 genomes]
rs160651	0.87[AMR][1000 genomes]
rs160652	0.89[AMR][1000 genomes]
rs160655	0.87[AMR][1000 genomes]
rs160656	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs160657	0.94[AMR][1000 genomes]
rs1715235	0.80[AMR][1000 genomes]
rs1723266	0.80[AMR][1000 genomes]
rs1723267	0.80[AMR][1000 genomes]
rs1723269	0.80[AMR][1000 genomes]
rs1723270	0.80[AMR][1000 genomes]
rs182600	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs186378	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1873494	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs188765	0.80[AMR][1000 genomes]
rs1964692	0.80[AMR][1000 genomes]
rs1979823	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2243480	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2257790	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2420170	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2420171	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2420172	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2460422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2460425	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2460426	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2460431	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2465120	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2637561	0.93[AMR][1000 genomes]
rs2658583	0.80[AMR][1000 genomes]
rs2961102	0.80[AMR][1000 genomes]
rs3105600	0.80[AMR][1000 genomes]
rs313798	0.80[AMR][1000 genomes]
rs313801	0.85[AMR][1000 genomes]
rs313802	0.85[AMR][1000 genomes]
rs313803	0.85[AMR][1000 genomes]
rs313809	0.80[AMR][1000 genomes]
rs313813	0.82[AMR][1000 genomes]
rs313814	0.82[AMR][1000 genomes]
rs313819	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs313820	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs313821	0.80[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs313822	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs313824	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs313831	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs313832	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs313833	0.93[AMR][1000 genomes]
rs316304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316307	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs316313	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs316314	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs316315	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs316317	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316321	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316322	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316325	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs316326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs316327	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs316329	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs316331	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs316332	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs316333	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs316334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34032527	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34970380	0.80[AMR][1000 genomes]
rs35396113	0.80[AMR][1000 genomes]
rs36084489	0.80[AMR][1000 genomes]
rs36127118	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs383402	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs387676	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs392355	0.80[AMR][1000 genomes]
rs402418	0.82[AMR][1000 genomes]
rs403089	0.85[AMR][1000 genomes]
rs4145008	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4149468	0.84[EUR][1000 genomes]
rs419603	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs422164	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs423187	0.80[AMR][1000 genomes]
rs4236207	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs427044	0.80[AMR][1000 genomes]
rs431076	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs431318	0.82[AMR][1000 genomes]
rs437889	0.82[AMR][1000 genomes]
rs4481472	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs448377	0.80[AMR][1000 genomes]
rs451396	0.80[AMR][1000 genomes]
rs458291	0.84[AMR][1000 genomes]
rs462853	0.93[AMR][1000 genomes]
rs465359	0.93[AMR][1000 genomes]
rs466983	0.84[AMR][1000 genomes]
rs4718309	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4718315	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4718316	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4718317	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4718333	0.84[EUR][1000 genomes]
rs59966766	0.80[AMR][1000 genomes]
rs6460274	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6460277	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6958289	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6958420	0.85[EUR][1000 genomes]
rs6959002	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6964245	0.85[EUR][1000 genomes]
rs6964530	0.81[AFR][1000 genomes]
rs6966322	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6974723	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73136349	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73148097	0.80[AMR][1000 genomes]
rs73150014	0.80[AMR][1000 genomes]
rs7778911	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs778679	0.82[EUR][1000 genomes]
rs778687	0.85[EUR][1000 genomes]
rs778704	0.81[AFR][1000 genomes]
rs7787230	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs778729	0.85[EUR][1000 genomes]
rs778733	0.85[EUR][1000 genomes]
rs7792391	0.84[EUR][1000 genomes]
rs7804223	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs780453	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7808834	0.80[AMR][1000 genomes]
rs781150	0.80[AMR][1000 genomes]
rs781153	0.80[AMR][1000 genomes]
rs781154	0.80[AMR][1000 genomes]
rs781155	0.80[AMR][1000 genomes]
rs781156	0.80[AMR][1000 genomes]
rs958550	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9769882	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	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
3	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv971489	chr7:65590579-65614004	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs316318	VKORC1L1	Cis_1M	lymphoblastoid	RTeQTL
rs316318	ASL	cis	multi-tissue	Pritchard
rs316318	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs316318	GUSB	cis	Whole Blood	GTEx
rs316318	RP4-756H11.3	cis	lung	GTEx
rs316318	VKORC1L1	cis	Whole Blood	GTEx
rs316318	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	chr7:65581000-65617200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:65590800-65613400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:65594800-65614400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr7:65595000-65614400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr7:65595000-65614600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:65595000-65615200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:65595200-65613600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr7:65595200-65614000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:65595200-65622000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:65595600-65623200	Strong transcription	Dnd41	blood
11	chr7:65595600-65623800	Strong transcription	Primary T cells from cord blood	blood
12	chr7:65595800-65617200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:65595800-65620000	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:65598800-65613600	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr7:65599200-65614200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:65599200-65623400	Strong transcription	Primary B cells from peripheral blood	blood
17	chr7:65604200-65613400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:65604200-65614000	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr7:65604400-65613800	Strong transcription	Fetal Thymus	thymus
20	chr7:65604600-65613200	Strong transcription	Thymus	Thymus
21	chr7:65604600-65613600	Strong transcription	Brain Germinal Matrix	brain
22	chr7:65604600-65613800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:65605800-65615200	Strong transcription	K562	blood
24	chr7:65606000-65613000	Strong transcription	A549	lung
25	chr7:65606200-65613000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:65606600-65613800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:65606600-65614400	Strong transcription	Fetal Brain Female	brain
28	chr7:65606600-65617600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:65606800-65614200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:65607400-65613800	Strong transcription	Brain Anterior Caudate	brain
31	chr7:65607400-65617000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:65608000-65613800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:65608200-65617000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:65608400-65613400	Weak transcription	HUVEC	blood vessel
35	chr7:65608400-65615400	Weak transcription	Stomach Mucosa	stomach
36	chr7:65608600-65615600	Weak transcription	HSMMtube	muscle
37	chr7:65608800-65613200	Weak transcription	HMEC	breast
38	chr7:65608800-65614600	Strong transcription	Fetal Intestine Large	intestine
39	chr7:65609000-65613200	Strong transcription	Duodenum Mucosa	Duodenum
40	chr7:65609000-65622400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:65609200-65613200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:65609200-65613600	Strong transcription	Lung	lung
43	chr7:65609200-65615400	Weak transcription	Fetal Heart	heart
44	chr7:65609200-65615800	Weak transcription	Psoas Muscle	Psoas
45	chr7:65609200-65623200	Weak transcription	Fetal Brain Male	brain
46	chr7:65609200-65623400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:65609400-65614000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr7:65609600-65624600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr7:65609800-65613200	Strong transcription	NHEK	skin
50	chr7:65609800-65613400	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links