Variant report

Variant	rs10744660
Chromosome Location	chr12:4827014-4827015
allele	A/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	CTCF	chr12:4827000-4827150	WERI-Rb-1	eye:	n/a	n/a
2	RAD21	chr12:4826985-4827285	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr12:4826922-4827318	HepG2	liver:	n/a	n/a
4	RAD21	chr12:4826990-4827343	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr12:4827000-4827150	GM12872	blood:	n/a	n/a
6	RAD21	chr12:4826848-4827392	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr12:4826980-4827230	GM12871	blood:	n/a	n/a
8	RAD21	chr12:4827006-4827235	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4819538..4821832-chr12:4825650..4828187,2	K562	blood:

Variant related genes	Relation type
GALNT8	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10459130	0.95[EUR][1000 genomes]
rs10774265	0.87[ASN][1000 genomes]
rs10849122	0.89[ASN][1000 genomes]
rs10849124	0.90[ASN][1000 genomes]
rs10849134	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11063310	0.87[ASN][1000 genomes]
rs11063312	0.90[ASN][1000 genomes]
rs11063319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11063323	0.86[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs11063337	0.95[EUR][1000 genomes]
rs12312983	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs12422704	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs1860347	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2079776	0.87[ASN][1000 genomes]
rs3782743	0.86[CHB][hapmap];0.96[JPT][hapmap]
rs4766284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4766285	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6489562	0.87[ASN][1000 genomes]
rs6489564	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7132150	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7311212	0.87[ASN][1000 genomes]
rs7962439	0.87[ASN][1000 genomes]
rs7979891	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs997411	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1054218	chr12:4819576-4882667	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4810000-4827200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:4811200-4833600	Weak transcription	Brain Germinal Matrix	brain
3	chr12:4824200-4828400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:4825000-4827200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:4825400-4828400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:4825400-4828600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:4825800-4838200	Weak transcription	Gastric	stomach
8	chr12:4826800-4827600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:4826800-4828400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:4826800-4830400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr12:4827000-4827600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:4827000-4827800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:4827000-4827800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:4827000-4829000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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