Variant report

Variant	rs17123721
Chromosome Location	chr1:63061242-63061243
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	chr1:63060940-63061536	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ANGPTL3	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10493323	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs10493325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.94[MKK][hapmap]
rs1168050	1.00[CHB][hapmap]
rs1168121	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12023489	1.00[JPT][hapmap]
rs12062275	1.00[CHB][hapmap]
rs12563308	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[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12563863	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12565895	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[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12566265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1408480	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17123615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[EUR][1000 genomes]
rs17123688	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17123694	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[MKK][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17123705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17123712	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]
rs17123725	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17123743	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[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2016736	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34898550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36157139	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3737890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.94[MKK][hapmap];1.00[EUR][1000 genomes]
rs55709519	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56094630	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56193814	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56792530	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57022388	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59505425	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59662235	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59816054	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60339595	1.00[EUR][1000 genomes]
rs610248	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs61308091	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61501887	1.00[EUR][1000 genomes]
rs74076653	1.00[EUR][1000 genomes]
rs74076654	1.00[EUR][1000 genomes]
rs74076668	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74076670	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74076686	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74076689	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74076691	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74076695	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74076699	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74076907	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74076909	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74078610	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74078643	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74078661	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9436224	1.00[JPT][hapmap]

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	esv1817371	chr1:62901935-63129697	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1011203	chr1:63047046-63081879	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv870559	chr1:63057136-63113719	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63007200-63096200	Weak transcription	HUVEC	blood vessel
2	chr1:63010800-63078400	Weak transcription	A549	lung
3	chr1:63021600-63061400	Weak transcription	Pancreas	Pancrea
4	chr1:63036800-63113600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:63038400-63087600	Weak transcription	NHEK	skin
6	chr1:63038400-63095600	Weak transcription	Brain Germinal Matrix	brain
7	chr1:63038600-63083000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:63039000-63063400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:63039200-63095200	Weak transcription	Ovary	ovary
10	chr1:63041000-63095200	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:63041000-63095600	Weak transcription	Fetal Stomach	stomach
12	chr1:63042200-63083600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:63044000-63076000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:63047600-63077000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:63050600-63083800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:63051000-63066400	Weak transcription	NHLF	lung
17	chr1:63051400-63062800	Weak transcription	Psoas Muscle	Psoas
18	chr1:63051800-63075800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:63051800-63077000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:63051800-63083400	Weak transcription	Fetal Lung	lung
21	chr1:63051800-63096000	Weak transcription	Left Ventricle	heart
22	chr1:63052000-63062200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:63052400-63062400	Weak transcription	Fetal Intestine Small	intestine
24	chr1:63052400-63083800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:63052600-63077200	Weak transcription	HSMM	muscle
26	chr1:63052600-63084400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:63052800-63062400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:63052800-63067000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:63053000-63068000	Weak transcription	NHDF-Ad	bronchial
30	chr1:63054600-63064800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:63054800-63079800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:63054800-63087600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:63055200-63063000	Weak transcription	NH-A	brain
34	chr1:63056000-63061400	Weak transcription	Fetal Intestine Large	intestine
35	chr1:63057000-63082800	Weak transcription	Brain Anterior Caudate	brain
36	chr1:63057000-63083800	Weak transcription	Adipose Nuclei	Adipose
37	chr1:63057600-63061800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:63058400-63062400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:63059200-63061600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:63059400-63065200	Enhancers	HepG2	liver
41	chr1:63060200-63062400	Enhancers	Liver	Liver
42	chr1:63060600-63061800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr1:63060600-63062400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:63060600-63063400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:63060600-63066200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr1:63060600-63076600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:63061200-63062800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr1:63061200-63064400	Weak transcription	Osteobl	bone

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