Variant report

Variant	rs10810243
Chromosome Location	chr9:14789521-14789522
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	chr9:14789458-14789843	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
FREM1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10738377	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[AFR][1000 genomes]
rs10738379	1.00[LWK][hapmap]
rs10756612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10810237	1.00[ASW][hapmap];0.92[CEU][hapmap];0.90[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10810241	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10810242	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11506374	1.00[LWK][hapmap]
rs12347393	1.00[LWK][hapmap]
rs34709613	0.83[AMR][1000 genomes]
rs7849488	0.92[CEU][hapmap]
rs7858690	1.00[AFR][1000 genomes]
rs7860370	1.00[ASW][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.82[TSI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv613637	chr9:14524438-15011915	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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	esv3362157	chr9:14542189-14791977	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1025566	chr9:14687088-14791199	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1023955	chr9:14754010-14800259	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2761502	chr9:14757877-14827373	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv831518	chr9:14760638-14953501	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv1030626	chr9:14786215-14853681	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv540071	chr9:14786215-14853681	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10810243	ZDHHC21	cis	cerebellum	SCAN
rs10810243	CER1	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14745000-14809800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr9:14748800-14790000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:14755800-14812400	Weak transcription	Pancreas	Pancrea
4	chr9:14758400-14793400	Weak transcription	Aorta	Aorta
5	chr9:14764800-14809600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:14768600-14808800	Weak transcription	Fetal Intestine Small	intestine
7	chr9:14773400-14796400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr9:14776200-14794000	Weak transcription	Fetal Stomach	stomach
9	chr9:14779200-14798600	Strong transcription	Fetal Kidney	kidney
10	chr9:14779800-14853200	Weak transcription	Placenta	Placenta
11	chr9:14780400-14795800	Weak transcription	Left Ventricle	heart
12	chr9:14780400-14843200	Weak transcription	Fetal Heart	heart
13	chr9:14782000-14822000	Weak transcription	Fetal Brain Male	brain
14	chr9:14782200-14790400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:14782800-14822000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr9:14783600-14800200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr9:14784400-14791400	Weak transcription	Fetal Muscle Leg	muscle
18	chr9:14784600-14790800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr9:14785800-14791000	Strong transcription	HepG2	liver
20	chr9:14786800-14814400	Strong transcription	Fetal Lung	lung
21	chr9:14787200-14793800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr9:14787600-14792000	Strong transcription	Fetal Muscle Trunk	muscle
23	chr9:14788400-14806800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr9:14789000-14790800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr9:14789200-14791000	Weak transcription	Colon Smooth Muscle	Colon
26	chr9:14789200-14793400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr9:14789400-14790200	Weak transcription	Adipose Nuclei	Adipose
28	chr9:14789400-14809200	Weak transcription	Fetal Intestine Large	intestine

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