Variant report

Variant	rs12135780
Chromosome Location	chr1:210638574-210638575
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	KAP1	chr1:210637676-210638775	U2OS	brain:	n/a	chr1:210638314-210638322
2	GATA3	chr1:210637591-210638731	SK-N-SH	brain:	n/a	chr1:210638206-210638213 chr1:210638206-210638213 chr1:210638199-210638220 chr1:210638206-210638213 chr1:210638204-210638214
3	ZNF263	chr1:210637560-210638604	HEK293-T-REx	kidney:	n/a	chr1:210638041-210638050 chr1:210637730-210637739
4	KAP1	chr1:210637708-210638765	HEK293	kidney:	n/a	chr1:210638314-210638322
5	TCF7L2	chr1:210637932-210638594	HEK293	kidney:	n/a	n/a
6	TCF12	chr1:210637677-210638614	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:210636990..210639038-chr1:210644516..210646058,2	MCF-7	breast:
2	chr1:210638414..210639957-chr1:210641526..210644422,2	K562	blood:
3	chr1:210627850..210630784-chr1:210637225..210638957,2	K562	blood:

Variant related genes	Relation type
ENSG00000270936	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11119503	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119504	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119507	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119508	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119509	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12078068	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120185	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128618	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130471	1.00[CEU][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60950440	1.00[ASN][1000 genomes]
rs72747454	1.00[ASN][1000 genomes]
rs742561	1.00[CEU][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv4376	chr1:210627620-210672326	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210571400-210641000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:210611600-210639600	Weak transcription	Aorta	Aorta
3	chr1:210614600-210641200	Weak transcription	Gastric	stomach
4	chr1:210625800-210638800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:210626200-210650000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:210628400-210640800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:210630000-210641200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:210630200-210641400	Weak transcription	Liver	Liver
9	chr1:210631000-210644200	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:210631000-210653800	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:210631200-210640200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:210632000-210639000	Weak transcription	Lung	lung
13	chr1:210635800-210639800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:210636000-210639400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:210636000-210641000	Weak transcription	Ovary	ovary
16	chr1:210636400-210646000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:210637200-210640800	Weak transcription	Right Ventricle	heart
18	chr1:210637400-210640600	Weak transcription	Spleen	Spleen
19	chr1:210637800-210638800	Enhancers	Dnd41	blood
20	chr1:210637800-210639800	Strong transcription	HSMMtube	muscle
21	chr1:210637800-210640000	Strong transcription	Left Ventricle	heart
22	chr1:210638000-210641200	Strong transcription	HSMM	muscle
23	chr1:210638200-210642400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:210638400-210644400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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