Variant report

Variant	rs10810110
Chromosome Location	chr9:14199422-14199423
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr9:14199054-14199475	SK-N-SH_RA	brain:	n/a	n/a
2	POLR2A	chr9:14199147-14199611	SK-N-SH	brain:	n/a	n/a
3	MAX	chr9:14199038-14199592	SK-N-SH	brain:	n/a	n/a
4	MYC	chr9:14198993-14199618	MCF10A-Er-Src	breast:	n/a	n/a
5	RAD21	chr9:14199111-14199546	SK-N-SH_RA	brain:	n/a	n/a
6	NFIC	chr9:14198949-14199698	SK-N-SH	brain:	n/a	n/a
7	SIN3AK20	chr9:14199109-14199512	SK-N-SH	brain:	n/a	n/a
8	SIN3AK20	chr9:14199184-14199550	PFSK-1	brain:	n/a	n/a
9	YY1	chr9:14199214-14199542	SK-N-SH_RA	brain:	n/a	n/a
10	EP300	chr9:14199042-14199624	SK-N-SH_RA	brain:	n/a	n/a
11	MXI1	chr9:14198547-14200665	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr9:14199213-14199436	SK-N-SH	brain:	n/a	n/a
13	NFIC	chr9:14199030-14199617	SK-N-SH	brain:	n/a	n/a
14	USF1	chr9:14199126-14199487	SK-N-SH	brain:	n/a	n/a
15	MAX	chr9:14199070-14199532	SK-N-SH	brain:	n/a	n/a
16	TCF12	chr9:14198867-14199714	SK-N-SH	brain:	n/a	n/a
17	SIN3AK20	chr9:14199119-14199601	PFSK-1	brain:	n/a	n/a
18	RXRA	chr9:14198979-14199602	SK-N-SH	brain:	n/a	n/a
19	STAT3	chr9:14199263-14199530	MCF10A-Er-Src	breast:	n/a	n/a
20	MYC	chr9:14198729-14199492	MCF10A-Er-Src	breast:	n/a	n/a
21	EP300	chr9:14199159-14199542	SK-N-SH_RA	brain:	n/a	n/a
22	USF1	chr9:14199140-14199430	SK-N-SH_RA	brain:	n/a	n/a
23	GATA3	chr9:14199037-14199744	SK-N-SH	brain:	n/a	n/a
24	TCF12	chr9:14198966-14199739	SK-N-SH	brain:	n/a	n/a
25	MAX	chr9:14199120-14199517	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:14197932..14199524-chr9:14315702..14317595,2	MCF-7	breast:
2	chr9:14198598..14200536-chr9:14204416..14206854,2	MCF-7	breast:
3	chr9:14185623..14188206-chr9:14197745..14200671,2	MCF-7	breast:
4	chr9:14198108..14200232-chr9:14207218..14209041,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234982	TF binding region
ENSG00000225472	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10738355	0.83[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10738356	0.97[AFR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10738357	0.82[EUR][1000 genomes]
rs10756532	0.81[CHB][hapmap]
rs10756535	0.80[AMR][1000 genomes]
rs10756536	0.86[CHB][hapmap]
rs10756539	0.82[EUR][1000 genomes]
rs10810106	0.86[CHB][hapmap];0.85[EUR][1000 genomes]
rs10810113	0.82[CHB][hapmap];1.00[GIH][hapmap];0.82[EUR][1000 genomes]
rs10810114	0.82[CHB][hapmap];0.82[EUR][1000 genomes]
rs10961400	0.80[AMR][1000 genomes]
rs10961413	0.86[EUR][1000 genomes]
rs10961414	0.85[CEU][hapmap]
rs10961419	0.82[EUR][1000 genomes]
rs10961420	0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs10961421	0.86[ASN][1000 genomes]
rs12235129	0.96[EUR][1000 genomes]
rs13287487	0.85[CEU][hapmap]
rs2382448	0.82[CHB][hapmap]
rs2382450	0.82[CHB][hapmap]
rs2382451	0.85[CEU][hapmap]
rs2382454	0.82[TSI][hapmap];0.88[EUR][1000 genomes]
rs2382456	0.83[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2382457	0.84[ASW][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2382458	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2382459	0.91[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2890982	0.82[CHB][hapmap]
rs2890984	0.82[CHB][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2890985	0.86[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4532695	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4551459	0.82[CHB][hapmap]
rs4628344	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs6474822	0.86[CHB][hapmap]
rs6474823	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6474824	0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs6474825	0.83[CEU][hapmap];0.91[YRI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7034162	0.85[CEU][hapmap];0.82[CHB][hapmap];0.83[EUR][1000 genomes]
rs7035474	0.86[CHB][hapmap]
rs73413827	0.86[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	nsv1033764	chr9:13764918-14226168	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv892593	chr9:13948798-14233159	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1023303	chr9:14025605-14286269	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv540069	chr9:14025605-14286269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	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
6	nsv429998	chr9:14043516-14214688	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv892596	chr9:14145487-14208724	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv892597	chr9:14163383-14233159	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14177200-14203400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr9:14191800-14202800	Enhancers	Fetal Heart	heart
3	chr9:14192800-14207400	Weak transcription	Spleen	Spleen
4	chr9:14192800-14213400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:14193800-14203000	Enhancers	Fetal Brain Female	brain
6	chr9:14196000-14205400	Enhancers	Fetal Lung	lung
7	chr9:14197000-14201400	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr9:14197000-14201400	Enhancers	HMEC	breast
9	chr9:14197200-14199800	Enhancers	Fetal Brain Male	brain
10	chr9:14197600-14200200	Enhancers	Fetal Muscle Leg	muscle
11	chr9:14197600-14202800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr9:14197800-14199600	Enhancers	NH-A	brain
13	chr9:14197800-14200200	Enhancers	NHDF-Ad	bronchial
14	chr9:14197800-14201600	Enhancers	Right Ventricle	heart
15	chr9:14198000-14199800	Enhancers	Brain Germinal Matrix	brain
16	chr9:14198000-14201400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr9:14198200-14199600	Enhancers	Colonic Mucosa	Colon
18	chr9:14198200-14201200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr9:14198200-14204000	Enhancers	Colon Smooth Muscle	Colon
20	chr9:14198400-14199600	Enhancers	Brain Hippocampus Middle	brain
21	chr9:14198400-14200000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr9:14198400-14200000	Enhancers	Brain Substantia Nigra	brain
23	chr9:14198400-14200200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:14198400-14200200	Enhancers	Liver	Liver
25	chr9:14198400-14200400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr9:14198400-14200600	Enhancers	NHEK	skin
27	chr9:14198600-14199600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr9:14198600-14199600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:14198600-14199600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:14198600-14199600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr9:14198600-14199600	Enhancers	Lung	lung
32	chr9:14198600-14199600	Enhancers	Ovary	ovary
33	chr9:14198600-14199600	Enhancers	Pancreas	Pancrea
34	chr9:14198600-14199600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr9:14198600-14199600	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr9:14198600-14199800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:14198600-14200200	Enhancers	Brain Angular Gyrus	brain
38	chr9:14198600-14200200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr9:14198600-14200200	Enhancers	Fetal Stomach	stomach
40	chr9:14198600-14201600	Enhancers	Left Ventricle	heart
41	chr9:14198600-14201600	Enhancers	Psoas Muscle	Psoas
42	chr9:14198600-14203200	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr9:14198800-14199600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr9:14198800-14200000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:14198800-14200000	Enhancers	A549	lung
46	chr9:14198800-14200200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr9:14198800-14200200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr9:14198800-14201600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr9:14199000-14200200	Enhancers	Stomach Mucosa	stomach
50	chr9:14199000-14209200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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