Variant report

Variant	rs10992699
Chromosome Location	chr9:96048514-96048515
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	POLR2A	chr9:96047968-96048928	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr9:96047878-96049908	Raji	blood:	n/a	n/a

Variant related genes	Relation type
WNK2	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10992646	1.00[ASN][1000 genomes]
rs10992647	1.00[ASN][1000 genomes]
rs10992649	1.00[ASN][1000 genomes]
rs10992650	1.00[ASN][1000 genomes]
rs10992651	1.00[ASN][1000 genomes]
rs10992654	1.00[ASN][1000 genomes]
rs10992656	1.00[ASN][1000 genomes]
rs10992657	1.00[ASN][1000 genomes]
rs10992661	1.00[ASN][1000 genomes]
rs11787888	0.82[AMR][1000 genomes]
rs11789723	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12000967	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12002458	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12005950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12006039	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12552158	1.00[ASN][1000 genomes]
rs13283550	0.86[CEU][hapmap];0.89[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13287544	1.00[CEU][hapmap]
rs13289160	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1931364	1.00[ASN][1000 genomes]
rs34085543	0.82[AMR][1000 genomes]
rs34834050	0.82[AMR][1000 genomes]
rs35199621	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35566702	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36081907	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744213	1.00[ASN][1000 genomes]
rs55981123	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479471	0.85[CEU][hapmap];0.88[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479474	0.81[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7022051	0.85[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7023262	1.00[ASN][1000 genomes]
rs7032614	0.85[CEU][hapmap]
rs7042943	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7848843	0.86[CEU][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7857220	0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7866300	1.00[ASN][1000 genomes]
rs7867954	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7875384	1.00[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	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96027200-96051200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:96027200-96056000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr9:96027200-96061000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr9:96031400-96054600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr9:96031400-96055000	Weak transcription	Colonic Mucosa	Colon
6	chr9:96031400-96062800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr9:96033000-96054600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr9:96033000-96055000	Weak transcription	Brain Anterior Caudate	brain
9	chr9:96033000-96067200	Weak transcription	Brain Angular Gyrus	brain
10	chr9:96033400-96062800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr9:96033400-96067000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr9:96033400-96077200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr9:96033600-96050200	Weak transcription	Fetal Intestine Small	intestine
14	chr9:96033600-96054600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:96033600-96060200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr9:96033600-96061000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:96033600-96072800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr9:96033800-96054600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr9:96033800-96060400	Weak transcription	Colon Smooth Muscle	Colon
20	chr9:96035800-96051600	Weak transcription	Fetal Intestine Large	intestine
21	chr9:96040600-96049600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr9:96041000-96049400	Weak transcription	Brain Germinal Matrix	brain
23	chr9:96041000-96050400	Weak transcription	HepG2	liver
24	chr9:96041000-96052400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr9:96041400-96052000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr9:96041600-96056800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr9:96041800-96054600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr9:96044800-96049800	Weak transcription	Fetal Heart	heart
29	chr9:96046400-96051800	Weak transcription	Pancreas	Pancrea
30	chr9:96047200-96049200	Weak transcription	Fetal Brain Female	brain
31	chr9:96047200-96065000	Weak transcription	Fetal Brain Male	brain
32	chr9:96048000-96048600	Enhancers	Fetal Thymus	thymus
33	chr9:96048200-96049600	Enhancers	Primary B cells from cord blood	blood
34	chr9:96048200-96054600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr9:96048200-96057200	Weak transcription	Right Atrium	heart
36	chr9:96048400-96049200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:96048400-96049400	Enhancers	Primary B cells from peripheral blood	blood
38	chr9:96048400-96051400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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