Variant report

Variant	rs10761209
Chromosome Location	chr9:96077465-96077466
allele	A/C
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	GTF2F1	chr9:96077450-96077643	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:96040692..96043610-chr9:96075654..96077486,2	K562	blood:
2	chr9:96072987..96083429-chr9:96209751..96218385,15	MCF-7	breast:

Variant related genes	Relation type
WNK2	TF binding region
ENSG00000188938	Chromatin interaction
ENSG00000048828	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10761201	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10761204	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10761205	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10821094	0.81[EUR][1000 genomes]
rs10821096	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10821097	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10821099	0.92[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10821100	0.91[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10821101	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10821105	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10821106	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10821107	0.96[CEU][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs10821108	0.87[EUR][1000 genomes]
rs10992689	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10992697	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10992701	0.83[GIH][hapmap]
rs10992704	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1110335	0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1125029	0.84[MEX][hapmap]
rs12684394	0.87[EUR][1000 genomes]
rs1463544	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2012744	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2086103	0.87[EUR][1000 genomes]
rs3763634	0.88[EUR][1000 genomes]
rs3793546	0.85[EUR][1000 genomes]
rs41278286	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4743905	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4744207	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4744208	0.95[CHB][hapmap];0.91[JPT][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4744215	0.80[CEU][hapmap];0.88[TSI][hapmap];0.86[EUR][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	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv893580	chr9:95855100-96099377	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv430082	chr9:95905745-96095045	Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv893582	chr9:95963114-96116937	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv893583	chr9:95996573-96091688	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv893584	chr9:96002983-96116937	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96055600-96080200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr9:96056400-96079800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr9:96061600-96079000	Weak transcription	Gastric	stomach
4	chr9:96063800-96088600	Weak transcription	Right Atrium	heart
5	chr9:96065000-96079200	Weak transcription	Colonic Mucosa	Colon
6	chr9:96065200-96080000	Weak transcription	Spleen	Spleen
7	chr9:96066000-96082800	Weak transcription	Fetal Thymus	thymus
8	chr9:96067200-96081200	Weak transcription	Fetal Heart	heart
9	chr9:96067600-96079200	Weak transcription	Right Ventricle	heart
10	chr9:96067600-96086800	Weak transcription	Fetal Brain Male	brain
11	chr9:96067800-96086800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr9:96068200-96086200	Weak transcription	Brain Anterior Caudate	brain
13	chr9:96068400-96082400	Weak transcription	Brain Angular Gyrus	brain
14	chr9:96068400-96100400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr9:96068600-96079200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:96068600-96080200	Weak transcription	Left Ventricle	heart
17	chr9:96068800-96080800	Weak transcription	Psoas Muscle	Psoas
18	chr9:96068800-96082600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr9:96069200-96079400	Weak transcription	Fetal Muscle Leg	muscle
20	chr9:96069400-96079600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr9:96069400-96080000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr9:96070600-96087800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr9:96071400-96078800	Weak transcription	Brain Germinal Matrix	brain
24	chr9:96071400-96079000	Weak transcription	Fetal Stomach	stomach
25	chr9:96072600-96079000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr9:96074000-96088600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr9:96075200-96079200	Weak transcription	Pancreas	Pancrea
28	chr9:96075200-96081000	Weak transcription	Placenta	Placenta
29	chr9:96075400-96078200	Weak transcription	Stomach Mucosa	stomach
30	chr9:96075400-96078400	Weak transcription	Fetal Lung	lung
31	chr9:96075400-96079000	Weak transcription	Fetal Intestine Large	intestine
32	chr9:96075400-96079400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr9:96075400-96080400	Weak transcription	Colon Smooth Muscle	Colon
34	chr9:96075600-96078800	Enhancers	HepG2	liver
35	chr9:96076200-96088400	Weak transcription	A549	lung
36	chr9:96076600-96077800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
37	chr9:96076600-96077800	Strong transcription	Fetal Intestine Small	intestine
38	chr9:96077000-96077800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr9:96077000-96083800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr9:96077000-96085200	Strong transcription	Fetal Brain Female	brain
41	chr9:96077200-96077600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr9:96077200-96077800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
43	chr9:96077200-96081400	Strong transcription	Stomach Smooth Muscle	stomach
44	chr9:96077400-96077600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
45	chr9:96077400-96077600	Strong transcription	Rectal Mucosa Donor 31	rectum

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