Variant report

Variant	rs17536396
Chromosome Location	chr1:223101462-223101463
allele	A/G
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	MAFK	chr1:223101440-223101985	H1-hESC	embryonic stem cell:	n/a	n/a
2	SETDB1	chr1:223101338-223102110	U2OS	brain:	n/a	n/a
3	MXI1	chr1:223101224-223102398	SK-N-SH	brain:	n/a	n/a
4	TCF7L2	chr1:223101374-223101657	PANC-1	pancreas:	n/a	chr1:223101498-223101507 chr1:223101495-223101509 chr1:223101496-223101506 chr1:223101494-223101510 chr1:223101497-223101506 chr1:223101494-223101510
5	TCF7L2	chr1:223100798-223101870	HEK293	kidney:	n/a	chr1:223101498-223101507 chr1:223101495-223101509 chr1:223101496-223101506 chr1:223101494-223101510 chr1:223101497-223101506 chr1:223101494-223101510
6	KAP1	chr1:223101383-223102172	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
DISP1	TF binding region

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10495202	0.91[AMR][1000 genomes]
rs1132369	0.91[AMR][1000 genomes]
rs1132371	0.91[AMR][1000 genomes]
rs11588378	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12734196	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17475753	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17475774	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17477752	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17534704	0.91[AMR][1000 genomes]
rs17534774	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17535004	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17535032	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17535137	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17536056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17536209	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17536299	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17536522	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34080450	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34151467	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs34194482	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34225287	0.91[AMR][1000 genomes]
rs34232799	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34277924	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs34299243	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs34355153	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34503525	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34643369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34690779	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs34701716	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34713681	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs34755094	0.91[AMR][1000 genomes]
rs34761499	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs34774807	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34791822	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs34804073	0.91[AMR][1000 genomes]
rs34893395	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs34962524	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35095009	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs35131473	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs35197173	0.82[AMR][1000 genomes]
rs35217299	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35270996	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs35283922	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs35319605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35356885	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs35399857	0.91[AMR][1000 genomes]
rs35506390	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35538644	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35551242	0.94[EUR][1000 genomes]
rs35578837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35597626	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35597790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35689138	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35756512	0.86[AMR][1000 genomes]
rs35773347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35898924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35912520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35947021	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36032255	0.86[AMR][1000 genomes]
rs36066427	0.86[AMR][1000 genomes]
rs36090356	0.91[AMR][1000 genomes]
rs36113407	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4298738	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61838118	0.82[AMR][1000 genomes]
rs61838119	0.91[AMR][1000 genomes]
rs61839587	0.91[AMR][1000 genomes]
rs61839588	0.91[AMR][1000 genomes]
rs61839600	0.91[AMR][1000 genomes]
rs61839601	0.91[AMR][1000 genomes]
rs61839602	0.91[AMR][1000 genomes]
rs61840263	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61840271	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61840273	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71644708	0.91[AMR][1000 genomes]
rs71644709	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71644714	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71644716	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71644718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv873207	chr1:223078802-223292632	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223083600-223101600	Weak transcription	Fetal Stomach	stomach
2	chr1:223090800-223101600	Weak transcription	Pancreas	Pancrea
3	chr1:223092400-223116200	Weak transcription	Primary B cells from cord blood	blood
4	chr1:223097200-223101600	Weak transcription	Psoas Muscle	Psoas
5	chr1:223098800-223101800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:223098800-223101800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:223099200-223101600	Weak transcription	Left Ventricle	heart
8	chr1:223099400-223101800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:223099800-223101600	Enhancers	NHDF-Ad	bronchial
10	chr1:223099800-223101600	Enhancers	NHLF	lung
11	chr1:223099800-223102000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:223100200-223101600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:223100200-223101600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:223100200-223101600	Weak transcription	Esophagus	oesophagus
15	chr1:223100200-223101600	Weak transcription	Gastric	stomach
16	chr1:223100200-223101800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:223100200-223101800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr1:223100200-223116200	Weak transcription	Fetal Intestine Small	intestine
19	chr1:223100400-223101600	Weak transcription	Right Atrium	heart
20	chr1:223100400-223104400	Weak transcription	HSMMtube	muscle
21	chr1:223100600-223101600	Weak transcription	NH-A	brain
22	chr1:223100600-223101800	Weak transcription	Osteobl	bone
23	chr1:223100600-223102200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr1:223100800-223102000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:223101000-223101600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:223101000-223102200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:223101200-223101600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:223101200-223101600	Enhancers	Adipose Nuclei	Adipose
29	chr1:223101200-223101600	Enhancers	Liver	Liver
30	chr1:223101200-223101600	Enhancers	HepG2	liver
31	chr1:223101200-223101800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:223101200-223101800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:223101200-223101800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr1:223101200-223101800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:223101200-223101800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:223101200-223101800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:223101400-223101600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:223101400-223101600	Enhancers	Brain Germinal Matrix	brain
39	chr1:223101400-223101600	Enhancers	Brain Substantia Nigra	brain
40	chr1:223101400-223101600	Enhancers	Fetal Kidney	kidney
41	chr1:223101400-223101800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr1:223101400-223101800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:223101400-223101800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:223101400-223101800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:223101400-223101800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:223101400-223101800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr1:223101400-223101800	Enhancers	Fetal Muscle Leg	muscle
48	chr1:223101400-223101800	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr1:223101400-223101800	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr1:223101400-223101800	Flanking Active TSS	Stomach Smooth Muscle	stomach

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