Variant report

Variant	rs10736426
Chromosome Location	chr1:45984353-45984354
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45982342..45989534-chr1:46006947..46020678,57	K562	blood:
2	chr1:45975860..45989626-chr1:46030076..46041078,36	K562	blood:
3	chr1:45976870..45989534-chr1:46007918..46019226,54	K562	blood:
4	chr1:45974188..45977589-chr1:45979134..45984422,9	MCF-7	breast:
5	chr1:45982844..45990993-chr1:46030121..46038313,25	K562	blood:
6	chr1:45980210..45995142-chr1:46046095..46057139,89	K562	blood:
7	chr1:45974558..45995867-chr1:46046173..46057010,94	K562	blood:
8	chr1:45478829..45481780-chr1:45982107..45984522,2	K562	blood:
9	chr1:45982314..45985214-chr1:46047500..46050905,5	MCF-7	breast:
10	chr1:45978447..45985278-chr1:46015169..46019739,8	MCF-7	breast:
11	chr1:45982735..45988890-chr1:46031987..46038228,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000132763	Chromatin interaction
ENSG00000117448	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000132780	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 24 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10157597	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1044717	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10493120	0.83[GIH][hapmap];0.89[MEX][hapmap]
rs10789466	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1088099	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11211110	0.83[GIH][hapmap];0.89[MEX][hapmap]
rs11211113	0.83[GIH][hapmap];0.89[MEX][hapmap]
rs11211132	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11211134	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11211138	0.81[EUR][1000 genomes]
rs12038608	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12048936	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12082256	0.87[EUR][1000 genomes]
rs12145526	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12729974	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12749658	0.93[EUR][1000 genomes]
rs1337902	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1494813	0.96[CEU][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1691217	0.83[GIH][hapmap];1.00[MEX][hapmap]
rs1771549	0.90[MEX][hapmap]
rs1974271	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2077808	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2152077	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356555	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356559	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap]
rs2356560	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356561	0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2991966	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2993257	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2993259	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34315657	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3748643	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4233498	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4660306	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4660309	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4660860	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4660862	0.96[CEU][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4660864	0.96[CEU][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4660866	0.84[EUR][1000 genomes]
rs4660867	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4660868	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4660871	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4660872	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6429566	0.83[GIH][hapmap]
rs6429567	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6429569	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6667191	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6673477	0.82[EUR][1000 genomes]
rs6688424	0.93[EUR][1000 genomes]
rs6688516	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7516006	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7522705	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7534467	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7536557	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7539253	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7543076	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7546268	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7549093	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs781059	0.81[GIH][hapmap];0.89[MEX][hapmap]
rs781060	0.83[GIH][hapmap];0.89[MEX][hapmap]
rs781066	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs882803	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs937290	0.96[CEU][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs945179	0.96[CEU][hapmap];0.96[GIH][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9725380	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9803979	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	esv1795802	chr1:45819489-46009818	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	esv1831217	chr1:45819489-46009818	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
4	nsv530016	chr1:45868543-46069020	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
5	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
6	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
7	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
8	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases

mRNA abundance (count:24)

SNP	Gene	Cis/trans	Tissue	Source
rs10736426	CCDC163P	cis	Artery Aorta	GTEx
rs10736426	ST3GAL3	cis	parietal	SCAN
rs10736426	LOC126661	cis	multi-tissue	Pritchard
rs10736426	LOC126661	Cis_1M	lymphoblastoid	RTeQTL
rs10736426	CCDC163P	cis	Stomach	GTEx
rs10736426	CYP4A11	cis	parietal	SCAN
rs10736426	TESK2	cis	lymphoblastoid	seeQTL
rs10736426	CCDC163P	cis	Esophagus Muscularis	GTEx
rs10736426	CCDC163P	cis	Adipose Subcutaneous	GTEx
rs10736426	CCDC163P	cis	Skin Sun Exposed Lower leg	GTEx
rs10736426	CCDC163P	cis	Esophagus Mucosa	GTEx
rs10736426	CCDC163P	cis	Muscle Skeletal	GTEx
rs10736426	CCDC163P	cis	Artery Tibial	GTEx
rs10736426	CYP4Z2P	cis	parietal	SCAN
rs10736426	CCDC163P	cis	Thyroid	GTEx
rs10736426	CCDC163P	cis	Heart Left Ventricle	GTEx
rs10736426	TESK2	cis	multi-tissue	Pritchard
rs10736426	CCDC163P	cis	lymphoblastoid	seeQTL
rs10736426	CCDC163P	cis	Whole Blood	GTEx
rs10736426	TESK2	cis	Lymphoblastoid	GTEx
rs10736426	LOC126661	cis	uninvolved skin	skin_eQTL
rs10736426	CCDC163P	cis	Nerve Tibial	GTEx
rs10736426	CCDC163P	cis	lung	GTEx
rs10736426	BEND5	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45966600-45984600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:45966800-45984800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:45971600-45985000	Strong transcription	Fetal Stomach	stomach
4	chr1:45972800-45984400	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:45972800-45984400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:45972800-45984400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:45972800-45984600	Strong transcription	Fetal Thymus	thymus
8	chr1:45973000-45984400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:45973000-45984400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:45973000-45984600	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr1:45973200-45984600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:45973200-45984600	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr1:45973200-45984600	Strong transcription	Adipose Nuclei	Adipose
14	chr1:45973400-45984400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:45973400-45984600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:45973800-45984800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:45974200-45984600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:45974400-45984400	Strong transcription	Osteobl	bone
19	chr1:45975400-45984400	Strong transcription	NH-A	brain
20	chr1:45975400-45984800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:45975600-45984400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:45975600-45984400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:45978600-45985000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:45979000-45984800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:45979400-45984800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:45980000-45984400	Genic enhancers	HSMMtube	muscle
27	chr1:45980000-45984600	Strong transcription	NHDF-Ad	bronchial
28	chr1:45980200-45985000	Genic enhancers	Liver	Liver
29	chr1:45980800-45984400	Strong transcription	HSMM	muscle
30	chr1:45980800-45984600	Genic enhancers	Duodenum Mucosa	Duodenum
31	chr1:45981000-45984600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:45981000-45986000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr1:45981600-45984600	Weak transcription	Small Intestine	intestine
34	chr1:45981800-45984400	Genic enhancers	Muscle Satellite Cultured Cells	--
35	chr1:45981800-45984400	Genic enhancers	Brain Substantia Nigra	brain
36	chr1:45982000-45984400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:45982000-45985400	Transcr. at gene 5' and 3'	A549	lung
38	chr1:45982200-45984600	Genic enhancers	NHEK	skin
39	chr1:45982400-45984400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:45982600-45984600	Weak transcription	Right Atrium	heart
41	chr1:45982800-45984400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr1:45982800-45984800	Genic enhancers	Brain Cingulate Gyrus	brain
43	chr1:45983000-45984400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:45983000-45984400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:45983000-45984400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:45983000-45984400	Weak transcription	Fetal Heart	heart
47	chr1:45983000-45984400	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:45983000-45984600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:45983000-45984800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
50	chr1:45983000-45984800	Weak transcription	Rectal Mucosa Donor 31	rectum

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