Variant report

Variant	rs12154324
Chromosome Location	chr7:106720932-106720933
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	TEAD4	chr7:106718570-106721499	K562	blood:	n/a	n/a
2	ZNF263	chr7:106719919-106721056	HEK293-T-REx	kidney:	n/a	chr7:106720825-106720834
3	MAX	chr7:106720609-106721073	K562	blood:	n/a	n/a
4	GATA1	chr7:106718493-106722997	K562	blood:	n/a	chr7:106719817-106719827 chr7:106722555-106722563 chr7:106720073-106720080 chr7:106719819-106719826 chr7:106720073-106720080 chr7:106719819-106719826 chr7:106719812-106719833 chr7:106720073-106720080 chr7:106718961-106718982 chr7:106721892-106721899 chr7:106719819-106719826 chr7:106720707-106720717 chr7:106719430-106719439
5	EP300	chr7:106720831-106721337	K562	blood:	n/a	n/a
6	GATA2	chr7:106720861-106721404	HUVEC	blood vessel:	n/a	n/a
7	GATA1	chr7:106720885-106721572	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:106627271..106629858-chr7:106719833..106721746,2	K562	blood:

Variant related genes	Relation type
ENSG00000243193	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1004570	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10232542	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10241141	0.91[ASN][1000 genomes]
rs10241155	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10248105	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10249866	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10261881	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10271426	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10272371	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11509187	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11760966	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11762123	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11764389	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11767753	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11772066	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12055946	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17153823	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17153861	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17340358	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17340479	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17340577	0.89[CEU][hapmap];0.86[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17341680	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17424512	0.83[EUR][1000 genomes]
rs17425839	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1860804	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1860805	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2041525	0.88[EUR][1000 genomes]
rs2041526	0.88[EUR][1000 genomes]
rs2191917	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2237653	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2250121	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2536490	0.80[CEU][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs28610544	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28873708	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3752645	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4460293	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56704102	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58386564	0.88[EUR][1000 genomes]
rs58979869	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6960708	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6971393	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6978486	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7778076	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7780728	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7780784	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7780830	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7786296	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7786692	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8180787	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9641372	0.84[EUR][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	nsv831087	chr7:106673465-106872460	Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv608072	chr7:106718347-106753248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr7:106716000-106721400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:106716000-106721400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:106717600-106722600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:106717800-106721200	Enhancers	Adipose Nuclei	Adipose
5	chr7:106718000-106730600	Weak transcription	Fetal Brain Female	brain
6	chr7:106718600-106721000	Enhancers	Fetal Heart	heart
7	chr7:106718800-106721200	Transcr. at gene 5' and 3'	K562	blood
8	chr7:106718800-106727800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:106719000-106721200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:106719400-106723800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:106719400-106730400	Weak transcription	Fetal Brain Male	brain
12	chr7:106719400-106734200	Weak transcription	Brain Anterior Caudate	brain
13	chr7:106719800-106721400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:106719800-106730600	Weak transcription	Brain Germinal Matrix	brain
15	chr7:106720000-106721000	Enhancers	Spleen	Spleen
16	chr7:106720000-106721800	Enhancers	HUVEC	blood vessel
17	chr7:106720200-106727000	Weak transcription	Pancreas	Pancrea
18	chr7:106720400-106721600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:106720400-106723800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:106720600-106721200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:106720800-106721400	Weak transcription	Brain Substantia Nigra	brain
22	chr7:106720800-106722200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:106720800-106730600	Weak transcription	Lung	lung
24	chr7:106720800-106730800	Weak transcription	Fetal Stomach	stomach

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