Variant report

Variant	rs12240956
Chromosome Location	chr10:21607985-21607986
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	NFIC	chr10:21606674-21608388	SK-N-SH	brain:	n/a	chr10:21607877-21607905 chr10:21607889-21607905 chr10:21607888-21607905
2	NFIC	chr10:21607547-21608205	ECC-1	luminal epithelium:	n/a	chr10:21607877-21607905 chr10:21607889-21607905 chr10:21607888-21607905
3	NFIC	chr10:21607588-21608203	ECC-1	luminal epithelium:	n/a	chr10:21607877-21607905 chr10:21607889-21607905 chr10:21607888-21607905
4	NFIC	chr10:21607618-21608127	SK-N-SH	brain:	n/a	chr10:21607877-21607905 chr10:21607889-21607905 chr10:21607888-21607905
5	CTCF	chr10:21607880-21608030	HCPEpiC	choroid plexus:	n/a	n/a
6	TCF12	chr10:21606801-21608289	SK-N-SH	brain:	n/a	n/a
7	ZNF263	chr10:21607661-21608061	HEK293-T-REx	kidney:	n/a	chr10:21607832-21607853

Variant related genes	Relation type
RNU6-15P	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10218879	0.89[ASN][1000 genomes]
rs10218952	0.89[ASN][1000 genomes]
rs10218971	0.89[ASN][1000 genomes]
rs10218986	0.89[ASN][1000 genomes]
rs11012642	1.00[ASN][1000 genomes]
rs11012644	1.00[ASN][1000 genomes]
rs11012645	1.00[ASN][1000 genomes]
rs11012646	1.00[ASN][1000 genomes]
rs11012648	1.00[ASN][1000 genomes]
rs11012658	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11012665	0.89[ASN][1000 genomes]
rs11814672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12248522	0.89[ASN][1000 genomes]
rs12250778	0.89[ASN][1000 genomes]
rs12256314	0.89[ASN][1000 genomes]
rs12359942	1.00[ASN][1000 genomes]
rs13377089	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16921726	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16921729	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16921744	0.89[ASN][1000 genomes]
rs2360046	0.89[ASN][1000 genomes]
rs28460291	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28476641	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34299719	0.89[ASN][1000 genomes]
rs55638725	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55672286	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57729500	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60558873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60875963	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61851539	0.89[ASN][1000 genomes]
rs61851542	0.89[ASN][1000 genomes]
rs7070371	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7080191	0.89[ASN][1000 genomes]
rs7085637	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7085642	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7090939	0.89[ASN][1000 genomes]
rs7091420	0.89[ASN][1000 genomes]
rs74120911	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7894995	0.89[ASN][1000 genomes]
rs7900321	1.00[ASN][1000 genomes]
rs7907491	0.89[ASN][1000 genomes]
rs7910000	1.00[ASN][1000 genomes]
rs7913116	0.89[ASN][1000 genomes]
rs7922927	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9971139	1.00[ASN][1000 genomes]
rs9971348	1.00[ASN][1000 genomes]
rs9971367	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530148	chr10:21065080-21724565	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv831807	chr10:21509185-21688043	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2761579	chr10:21554557-21612760	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:21605400-21608000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr10:21606000-21608800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr10:21606600-21608800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr10:21606800-21608000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:21606800-21608200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:21606800-21608400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:21606800-21608400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr10:21606800-21608400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr10:21606800-21608800	Enhancers	A549	lung
10	chr10:21607000-21608000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr10:21607000-21608000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr10:21607000-21608000	Enhancers	Fetal Stomach	stomach
13	chr10:21607000-21608000	Enhancers	Fetal Thymus	thymus
14	chr10:21607000-21608000	Enhancers	Right Atrium	heart
15	chr10:21607000-21608200	Enhancers	Fetal Muscle Leg	muscle
16	chr10:21607000-21608400	Enhancers	NH-A	brain
17	chr10:21607000-21608400	Enhancers	NHLF	lung
18	chr10:21607200-21608000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr10:21607200-21608000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr10:21607200-21608200	Enhancers	Fetal Heart	heart
21	chr10:21607200-21608400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr10:21607200-21608400	Enhancers	Ovary	ovary
23	chr10:21607200-21608600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr10:21607200-21608600	Enhancers	Fetal Kidney	kidney
25	chr10:21607400-21608000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr10:21607600-21608000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr10:21607600-21608000	Enhancers	Lung	lung
28	chr10:21607600-21608400	Enhancers	Fetal Lung	lung
29	chr10:21607600-21608400	Enhancers	Fetal Muscle Trunk	muscle
30	chr10:21607600-21608400	Enhancers	Right Ventricle	heart
31	chr10:21607600-21608800	Enhancers	HUVEC	blood vessel
32	chr10:21607800-21608000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr10:21607800-21608000	Enhancers	Adipose Nuclei	Adipose
34	chr10:21607800-21608000	Enhancers	Placenta	Placenta
35	chr10:21607800-21608800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr10:21607800-21615800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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