Variant report

Variant	rs9634174
Chromosome Location	chr12:120030381-120030382
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	EP300	chr12:120030030-120030429	SK-N-SH_RA	brain:	n/a	n/a
2	NR2F2	chr12:120030023-120030413	K562	blood:	n/a	n/a
3	GATA1	chr12:120029910-120030642	K562	blood:	n/a	chr12:120030070-120030081
4	STAT5A	chr12:120030064-120030439	K562	blood:	n/a	n/a
5	NFIC	chr12:120029916-120030449	SK-N-SH	brain:	n/a	n/a
6	EP300	chr12:120030017-120030388	SK-N-SH_RA	brain:	n/a	n/a
7	FOS	chr12:120030096-120030425	MCF10A-Er-Src	breast:	n/a	n/a
8	CCNT2	chr12:120030063-120030429	K562	blood:	n/a	n/a
9	FOSL2	chr12:120030010-120030569	SK-N-SH	brain:	n/a	n/a
10	STAT5A	chr12:120030013-120030501	K562	blood:	n/a	n/a
11	TBL1XR1	chr12:120030047-120030402	K562	blood:	n/a	n/a
12	PML	chr12:120029947-120030491	K562	blood:	n/a	n/a
13	RCOR1	chr12:120030031-120030427	K562	blood:	n/a	n/a
14	JUND	chr12:120029916-120030517	SK-N-SH	brain:	n/a	n/a
15	EP300	chr12:120030041-120030479	K562	blood:	n/a	n/a
16	STAT3	chr12:120030115-120030436	MCF10A-Er-Src	breast:	n/a	n/a
17	GATA3	chr12:120029824-120030692	SK-N-SH	brain:	n/a	chr12:120030070-120030081
18	GATA2	chr12:120030009-120030453	SH-SY5Y	brain:	n/a	chr12:120030070-120030081
19	FOS	chr12:120030036-120030492	MCF10A-Er-Src	breast:	n/a	n/a
20	TCF12	chr12:120029858-120030715	SK-N-SH	brain:	n/a	n/a
21	PBX3	chr12:120029915-120030611	SK-N-SH	brain:	n/a	n/a
22	EP300	chr12:120029931-120030525	SK-N-SH	brain:	n/a	n/a
23	ARID3A	chr12:120030131-120030463	K562	blood:	n/a	n/a
24	MAX	chr12:120030004-120030411	SK-N-SH	brain:	n/a	n/a
25	MAZ	chr12:120030123-120030385	K562	blood:	n/a	n/a
26	JUND	chr12:120030050-120030404	K562	blood:	n/a	n/a
27	TEAD4	chr12:120030011-120030430	K562	blood:	n/a	n/a
28	JUN	chr12:120030129-120030389	K562	blood:	n/a	n/a
29	GATA2	chr12:120030023-120030482	K562	blood:	n/a	chr12:120030070-120030081
30	GATA3	chr12:120030049-120030415	SH-SY5Y	brain:	n/a	chr12:120030070-120030081
31	EP300	chr12:120029888-120030596	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr12:120029887-120030431	U87	brain:	n/a	n/a
33	GATA3	chr12:120029876-120030605	SK-N-SH	brain:	n/a	chr12:120030070-120030081
34	TAL1	chr12:120030048-120030445	K562	blood:	n/a	n/a
35	TEAD4	chr12:120029924-120030569	K562	blood:	n/a	n/a
36	GATA1	chr12:120029927-120030876	PBDE	blood:	n/a	chr12:120030070-120030081
37	GATA1	chr12:120030075-120030388	PBDEFetal	blood:	n/a	n/a
38	PBX3	chr12:120029881-120030565	SK-N-SH	brain:	n/a	n/a
39	TCF12	chr12:120029872-120030564	SK-N-SH	brain:	n/a	n/a
40	NFIC	chr12:120029817-120030546	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
TMEM233	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1109856	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12422340	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12425356	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12425649	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12425680	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12582735	0.81[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12825063	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12825555	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1520759	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1544329	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16949411	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2015795	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4767829	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767830	0.81[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4767831	0.80[EUR][1000 genomes]
rs56003549	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7315003	0.92[CEU][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];0.82[LWK][hapmap];0.87[MEX][hapmap];0.90[MKK][hapmap];0.85[TSI][hapmap];0.87[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9634163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916688	chr12:119801814-120044407	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv832529	chr12:119863378-120071646	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1052595	chr12:119992580-120132038	Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv541616	chr12:119992580-120132038	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9634174	WSB2	cis	cerebellum	SCAN
rs9634174	DYNLL1	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120013400-120030800	Weak transcription	Psoas Muscle	Psoas
2	chr12:120027400-120031000	Weak transcription	Osteobl	bone
3	chr12:120027800-120030600	Weak transcription	HSMM	muscle
4	chr12:120030000-120030400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr12:120030000-120030800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr12:120030000-120031000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr12:120030000-120031200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:120030200-120031200	Enhancers	K562	blood

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