Variant report

Variant	rs36127118
Chromosome Location	chr7:65565505-65565506
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:65563235..65566518-chr7:65579011..65581335,3	MCF-7	breast:
2	chr7:65563649..65566683-chr7:65578224..65580127,3	MCF-7	breast:
3	chr7:65563372..65566895-chr7:65568965..65573405,4	MCF-7	breast:
4	chr1:172501202..172501947-chr7:65564942..65565569,2	Hela-S3	cervix:
5	chr7:65564438..65566579-chr7:65590943..65592744,2	MCF-7	breast:
6	chr7:65563510..65565586-chr7:65577625..65580510,3	K562	blood:
7	chr7:65536863..65539073-chr7:65564586..65566634,2	MCF-7	breast:
8	chr7:65563966..65565586-chr7:65577625..65580510,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000241258	Chromatin interaction
ENSG00000094975	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10807699	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13308751	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546059	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs160543	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs160637	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs160638	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs160639	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs160642	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs160643	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs160644	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs160646	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs160648	0.86[AMR][1000 genomes]
rs160649	0.86[AMR][1000 genomes]
rs160651	0.86[AMR][1000 genomes]
rs160652	0.87[AMR][1000 genomes]
rs160655	0.86[AMR][1000 genomes]
rs160656	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs160657	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs182600	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs186378	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1873494	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2243480	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2257790	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2420170	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2420171	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2420172	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2460422	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2460425	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2460426	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2460431	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2465120	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2637561	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs313801	0.84[AMR][1000 genomes]
rs313802	0.84[AMR][1000 genomes]
rs313803	0.84[AMR][1000 genomes]
rs313813	0.80[AMR][1000 genomes]
rs313814	0.80[AMR][1000 genomes]
rs313819	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313820	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313821	0.95[ASN][1000 genomes]
rs313822	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313824	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313831	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs313832	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs313833	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs316304	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs316307	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316313	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316314	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316315	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs316317	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs316318	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs316321	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs316322	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs316325	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs316326	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs316327	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs316329	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs316331	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs316332	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs316333	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs316334	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34032527	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs383402	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs387676	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs402418	0.80[AMR][1000 genomes]
rs403089	0.84[AMR][1000 genomes]
rs4145008	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs419603	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs422164	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs431076	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs431318	0.80[AMR][1000 genomes]
rs437889	0.80[AMR][1000 genomes]
rs4481472	0.82[AMR][1000 genomes]
rs458291	0.82[AMR][1000 genomes]
rs462853	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs465359	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs466983	0.82[AMR][1000 genomes]
rs4718309	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4718315	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4718316	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4718317	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6460274	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6460277	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6958289	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6959002	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6966322	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6974723	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73136349	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7787230	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7804223	0.84[AMR][1000 genomes]
rs780453	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs958550	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9769882	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][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	nsv888325	chr7:65474919-65575893	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs36127118	RP4-756H11.3	cis	lung	GTEx
rs36127118	ASL	cis	multi-tissue	Pritchard
rs36127118	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs36127118	VKORC1L1	cis	Whole Blood	GTEx
rs36127118	GUSB	cis	Whole Blood	GTEx
rs36127118	VKORC1L1	Cis_1M	lymphoblastoid	RTeQTL
rs36127118	ASL	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65558200-65569400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:65564400-65565600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr7:65564400-65565800	Active TSS	Rectal Smooth Muscle	rectum
4	chr7:65564600-65565600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:65564600-65565600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:65564600-65565600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr7:65564600-65565600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr7:65564600-65565600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:65564600-65565600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:65564600-65565600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:65564600-65565600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr7:65564600-65565600	Flanking Active TSS	Brain Substantia Nigra	brain
13	chr7:65564600-65565600	Active TSS	Fetal Kidney	kidney
14	chr7:65564600-65565600	Flanking Active TSS	Fetal Stomach	stomach
15	chr7:65564600-65565600	Transcr. at gene 5' and 3'	Right Atrium	heart
16	chr7:65564600-65565600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr7:65564600-65565800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr7:65564600-65565800	Active TSS	Colon Smooth Muscle	Colon
19	chr7:65564600-65565800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr7:65564600-65565800	Active TSS	Fetal Brain Female	brain
21	chr7:65564600-65565800	Active TSS	Fetal Intestine Large	intestine
22	chr7:65564600-65565800	Flanking Active TSS	Placenta	Placenta
23	chr7:65564600-65565800	Active TSS	Ovary	ovary
24	chr7:65564600-65565800	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr7:65564600-65565800	Flanking Active TSS	Dnd41	blood
26	chr7:65564600-65566000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr7:65564600-65566000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:65564600-65566000	Active TSS	A549	lung
29	chr7:65564800-65565600	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr7:65564800-65565600	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr7:65564800-65565600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr7:65564800-65565600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:65564800-65565600	Active TSS	Aorta	Aorta
34	chr7:65564800-65565600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr7:65564800-65565600	Flanking Active TSS	Fetal Muscle Trunk	muscle
36	chr7:65564800-65565600	Active TSS	Lung	lung
37	chr7:65564800-65565600	Active TSS	Psoas Muscle	Psoas
38	chr7:65564800-65565600	Active TSS	HMEC	breast
39	chr7:65564800-65565800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr7:65564800-65565800	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr7:65564800-65565800	Active TSS	Placenta Amnion	Placenta Amnion
42	chr7:65565000-65565600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr7:65565000-65565600	Active TSS	Esophagus	oesophagus
44	chr7:65565000-65565600	Active TSS	Fetal Lung	lung
45	chr7:65565000-65565600	Active TSS	Gastric	stomach
46	chr7:65565000-65565800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:65565000-65565800	Active TSS	Brain Hippocampus Middle	brain
48	chr7:65565000-65565800	Active TSS	Hela-S3	cervix
49	chr7:65565000-65566200	Active TSS	Duodenum Mucosa	Duodenum
50	chr7:65565200-65565600	Active TSS	ES-I3 Cell Line	embryonic stem cell

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