Variant report

Variant	rs10756795
Chromosome Location	chr9:16730097-16730098
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	POLR2A	chr9:16729622-16730119	H1-neurons	neurons:	n/a	n/a
2	REST	chr9:16729571-16730142	H1-neurons	neurons:	n/a	chr9:16729831-16729844

Variant related genes	Relation type
BNC2	TF binding region

Extended variants
information (count: 130 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10283606	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10732336	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10733317	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10733318	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10733319	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10738450	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10738453	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10738454	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10738455	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10738456	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10738458	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10756791	0.83[ASN][1000 genomes]
rs10756802	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10756803	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10756804	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10756805	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10756806	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10810597	0.83[ASN][1000 genomes]
rs10810605	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10810608	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10810609	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10962563	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10962564	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10962565	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10962566	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13285058	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1330294	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1330295	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1330296	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1330297	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1330302	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1360285	0.84[EUR][1000 genomes]
rs1361074	0.81[AMR][1000 genomes]
rs1361076	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1411429	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1411430	0.98[ASN][1000 genomes]
rs1537004	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1544103	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1854694	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1888205	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1928849	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1970284	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1970285	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1980935	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1980937	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2039187	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2039188	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2150090	0.98[ASN][1000 genomes]
rs2183408	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2210104	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2225326	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2225327	0.81[AMR][1000 genomes]
rs2840290	0.98[ASN][1000 genomes]
rs28529611	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3850446	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3850447	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3904154	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4405008	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4626704	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4961739	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4961740	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4961742	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4961744	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4961750	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4961751	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4961752	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4961753	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5016915	0.81[AMR][1000 genomes]
rs5016917	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62541545	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62541547	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6475070	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6475071	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6475073	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6475074	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6475075	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6475076	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6475077	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6475078	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7021735	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7022131	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7028403	0.90[AMR][1000 genomes]
rs7028827	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7029195	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7029546	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7032294	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7034961	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7035033	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7035178	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7035732	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7038545	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7040406	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7042146	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7043797	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7047213	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7470506	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7851438	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7853424	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7853541	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7853573	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7853718	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7853764	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7853897	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7855308	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7857685	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7857721	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7857929	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7858709	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7858712	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7858914	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7866999	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7867001	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7867602	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7869115	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7874791	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9987410	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9987413	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9987475	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9987476	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9987698	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9987701	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530933	chr9:16251206-16830845	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530934	chr9:16281246-16779432	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1032856	chr9:16465330-16773471	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv540073	chr9:16465330-16773471	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv2758627	chr9:16641966-16809203	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv2759673	chr9:16641966-16809203	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv892649	chr9:16677221-16761597	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv892650	chr9:16696187-16950860	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr9:16728200-16732600	Weak transcription	NHEK	skin
2	chr9:16728200-16744600	Weak transcription	Fetal Intestine Large	intestine
3	chr9:16728400-16730600	Enhancers	Colon Smooth Muscle	Colon
4	chr9:16728400-16733600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:16728400-16736200	Weak transcription	HSMMtube	muscle
6	chr9:16728400-16743200	Weak transcription	Fetal Kidney	kidney
7	chr9:16728400-16744200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr9:16728600-16730200	Enhancers	A549	lung
9	chr9:16728600-16730400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:16728600-16730600	Enhancers	Rectal Smooth Muscle	rectum
11	chr9:16728600-16731200	Weak transcription	HSMM	muscle
12	chr9:16728600-16732400	Weak transcription	Adipose Nuclei	Adipose
13	chr9:16728600-16732600	Weak transcription	NHDF-Ad	bronchial
14	chr9:16728800-16743400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:16729000-16730400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:16729000-16731000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:16729000-16734400	Weak transcription	NHLF	lung
18	chr9:16729000-16743200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:16729200-16730600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr9:16729400-16730400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr9:16729400-16730400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr9:16729400-16730800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr9:16729400-16744400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr9:16729600-16730200	Enhancers	Fetal Stomach	stomach
25	chr9:16729600-16730400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr9:16729600-16730600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr9:16729600-16730600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr9:16729600-16744200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr9:16729800-16730200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr9:16729800-16730200	Flanking Active TSS	Ovary	ovary
31	chr9:16729800-16730200	Enhancers	Psoas Muscle	Psoas
32	chr9:16729800-16730400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:16729800-16730600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr9:16729800-16730600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr9:16729800-16735600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr9:16729800-16743400	Weak transcription	Osteobl	bone
37	chr9:16730000-16730200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr9:16730000-16730200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr9:16730000-16730200	Bivalent Enhancer	Brain Germinal Matrix	brain
40	chr9:16730000-16730200	Enhancers	Pancreas	Pancrea
41	chr9:16730000-16730400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
42	chr9:16730000-16730400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr9:16730000-16730600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr9:16730000-16730800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:16730000-16732000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr9:16730000-16732600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:16730000-16738200	Weak transcription	NH-A	brain
48	chr9:16730000-16744600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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