Variant report

Variant	rs10810597
Chromosome Location	chr9:16722304-16722305
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	chr9:16721829-16722407	PFSK-1	brain:	n/a	n/a
2	CEBPB	chr9:16722054-16722329	IMR90	lung:	n/a	n/a
3	SIN3AK20	chr9:16722067-16722385	PFSK-1	brain:	n/a	n/a
4	RAD21	chr9:16722112-16722394	SK-N-SH_RA	brain:	n/a	n/a
5	EP300	chr9:16722101-16722439	SK-N-SH_RA	brain:	n/a	n/a
6	NR3C1	chr9:16721884-16722335	A549	lung:	n/a	n/a
7	ESR1	chr9:16721961-16722310	ECC-1	luminal epithelium:	n/a	chr9:16722175-16722190 chr9:16722174-16722191
8	POLR2A	chr9:16721675-16722330	PFSK-1	brain:	n/a	n/a
9	MAFK	chr9:16722101-16722439	IMR90	lung:	n/a	n/a
10	NR3C1	chr9:16722006-16722355	A549	lung:	n/a	n/a
11	ESR1	chr9:16722025-16722329	ECC-1	luminal epithelium:	n/a	chr9:16722175-16722190 chr9:16722174-16722191
12	MAFK	chr9:16722219-16722430	HepG2	liver:	n/a	n/a
13	MAFK	chr9:16722100-16722434	H1-hESC	embryonic stem cell:	n/a	n/a
14	EP300	chr9:16722278-16722444	SK-N-SH_RA	brain:	n/a	n/a
15	NR3C1	chr9:16721987-16722352	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000234779	TF binding region

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10738451	1.00[CEU][hapmap];0.89[GIH][hapmap];0.92[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10738452	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10738454	0.85[ASN][1000 genomes]
rs10738459	0.85[CHB][hapmap]
rs10756791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10756795	0.83[ASN][1000 genomes]
rs10756805	0.85[CHB][hapmap]
rs10756806	0.85[CHB][hapmap];0.91[CHD][hapmap]
rs10756808	0.85[CHB][hapmap]
rs10810612	0.85[CHB][hapmap]
rs10962557	0.82[EUR][1000 genomes]
rs13285058	0.85[CHB][hapmap];0.91[CHD][hapmap]
rs1330294	0.85[CHB][hapmap];0.91[CHD][hapmap]
rs1330296	0.85[CHB][hapmap]
rs1330298	0.85[CHB][hapmap];0.82[CHD][hapmap];0.88[MEX][hapmap]
rs1330302	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs1361076	1.00[ASN][1000 genomes]
rs1411429	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs1411430	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1537004	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs1544103	0.86[CHB][hapmap]
rs16934964	0.85[CHB][hapmap]
rs1854694	0.85[ASN][1000 genomes]
rs1888205	1.00[CHB][hapmap]
rs1928849	0.85[CHB][hapmap]
rs1970284	0.85[CHB][hapmap]
rs1970285	0.85[CHB][hapmap]
rs1980936	0.84[EUR][1000 genomes]
rs2094781	0.85[CHB][hapmap]
rs2150090	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2183408	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2210104	0.86[CHB][hapmap]
rs2225327	0.93[ASN][1000 genomes]
rs2275255	1.00[CHB][hapmap]
rs2840290	0.94[CEU][hapmap];0.84[CHB][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3850446	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs3850447	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs3904154	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs4405008	0.92[CHD][hapmap]
rs4961750	0.85[CHB][hapmap]
rs4961751	0.85[CHB][hapmap]
rs5015536	0.85[CHB][hapmap]
rs5015537	0.85[CHB][hapmap]
rs5015539	0.84[CHB][hapmap]
rs5015540	0.85[CHB][hapmap]
rs6475074	0.85[CHB][hapmap];0.82[CHD][hapmap]
rs7029771	0.86[CHB][hapmap]
rs7034961	0.85[CHB][hapmap];1.00[CHD][hapmap]
rs7040406	0.81[ASN][1000 genomes]
rs7042146	0.98[ASN][1000 genomes]
rs73419968	0.83[EUR][1000 genomes]
rs7853573	0.85[CHB][hapmap];0.82[CHD][hapmap]
rs7853764	0.85[CHB][hapmap];0.91[CHD][hapmap]
rs7853897	0.85[CHB][hapmap];0.91[CHD][hapmap]
rs7857721	0.82[CHB][hapmap]
rs7857929	0.85[CHB][hapmap];0.91[CHD][hapmap]
rs7866023	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs7868797	0.85[CHB][hapmap]
rs7869097	0.86[CHB][hapmap]
rs9987413	0.85[CHB][hapmap];0.83[CHD][hapmap]
rs9987476	0.85[CHB][hapmap];0.82[CHD][hapmap]
rs9987698	0.85[CHB][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10810597	MPDZ	cis	parietal	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16709000-16726000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr9:16709600-16725800	Weak transcription	Fetal Stomach	stomach
3	chr9:16711400-16726600	Weak transcription	Psoas Muscle	Psoas
4	chr9:16713200-16725800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:16713200-16726600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:16718000-16722400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:16719000-16722400	Enhancers	NH-A	brain
8	chr9:16719200-16725400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr9:16719200-16726000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr9:16720000-16722400	Flanking Active TSS	HUVEC	blood vessel
11	chr9:16720200-16722400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:16720200-16726000	Weak transcription	Fetal Muscle Leg	muscle
13	chr9:16720400-16724600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:16720400-16725400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr9:16720600-16722400	Flanking Active TSS	Osteobl	bone
16	chr9:16720600-16725400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr9:16721400-16722400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:16721400-16722400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:16721400-16722400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr9:16721400-16722600	Active TSS	Aorta	Aorta
21	chr9:16721400-16725000	Weak transcription	Hela-S3	cervix
22	chr9:16721600-16722400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr9:16721600-16722400	Active TSS	Ovary	ovary
24	chr9:16721600-16722800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:16721600-16726800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr9:16721800-16722400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr9:16721800-16722400	Active TSS	Colon Smooth Muscle	Colon
28	chr9:16721800-16722400	Flanking Active TSS	HSMM	muscle
29	chr9:16721800-16722400	Flanking Active TSS	HSMMtube	muscle
30	chr9:16721800-16722800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr9:16722000-16722400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr9:16722000-16722400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr9:16722000-16722400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:16722000-16722400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr9:16722000-16722400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr9:16722000-16722400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:16722000-16722400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:16722000-16722400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr9:16722000-16722400	Active TSS	Adipose Nuclei	Adipose
40	chr9:16722000-16722400	Bivalent Enhancer	Left Ventricle	heart
41	chr9:16722000-16722400	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr9:16722000-16722400	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr9:16722000-16722400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr9:16722000-16722600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr9:16722000-16723200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr9:16722200-16722400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr9:16722200-16722400	Flanking Active TSS	Fetal Lung	lung
48	chr9:16722200-16722400	Bivalent Enhancer	Pancreas	Pancrea
49	chr9:16722200-16722400	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr9:16722200-16722400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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