Variant report

Variant	rs4012230
Chromosome Location	chr10:50511624-50511625
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	REST	chr10:50511592-50512158	ECC-1	luminal epithelium:	n/a	chr10:50511861-50511869
2	REST	chr10:50511604-50512129	ECC-1	luminal epithelium:	n/a	chr10:50511861-50511869

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50462897..50464824-chr10:50509332..50512254,2	K562	blood:
2	chr10:50361956..50364273-chr10:50509060..50511829,2	K562	blood:

Variant related genes	Relation type
C10orf71-AS1	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10745258	1.00[EUR][1000 genomes]
rs10776549	1.00[EUR][1000 genomes]
rs10776552	1.00[EUR][1000 genomes]
rs10776559	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10776564	1.00[EUR][1000 genomes]
rs10857457	1.00[EUR][1000 genomes]
rs10857459	1.00[EUR][1000 genomes]
rs1998592	1.00[MEX][hapmap]
rs2377945	1.00[EUR][1000 genomes]
rs2377947	1.00[EUR][1000 genomes]
rs2377967	1.00[EUR][1000 genomes]
rs2377973	1.00[EUR][1000 genomes]
rs2377974	1.00[EUR][1000 genomes]
rs2889795	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2889796	1.00[EUR][1000 genomes]
rs2889803	0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4012231	0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4240502	1.00[EUR][1000 genomes]
rs4641382	1.00[EUR][1000 genomes]
rs4838374	1.00[EUR][1000 genomes]
rs4838380	1.00[EUR][1000 genomes]
rs4838382	0.81[MKK][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4838385	0.90[AMR][1000 genomes]
rs4838471	1.00[EUR][1000 genomes]
rs4838477	1.00[EUR][1000 genomes]
rs4838478	1.00[EUR][1000 genomes]
rs4838488	0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4838499	1.00[EUR][1000 genomes]
rs4838508	1.00[EUR][1000 genomes]
rs4838509	1.00[EUR][1000 genomes]
rs6537511	1.00[EUR][1000 genomes]
rs6537531	1.00[EUR][1000 genomes]
rs7068929	1.00[EUR][1000 genomes]
rs7076165	1.00[EUR][1000 genomes]
rs7078936	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7080495	1.00[EUR][1000 genomes]
rs7082469	1.00[EUR][1000 genomes]
rs7084819	1.00[EUR][1000 genomes]
rs7085282	1.00[EUR][1000 genomes]
rs7088113	1.00[EUR][1000 genomes]
rs7094465	1.00[EUR][1000 genomes]
rs7094900	1.00[EUR][1000 genomes]
rs7095890	1.00[EUR][1000 genomes]
rs7099166	1.00[EUR][1000 genomes]
rs74130904	1.00[EUR][1000 genomes]
rs74133121	1.00[EUR][1000 genomes]
rs74133124	1.00[EUR][1000 genomes]
rs7893653	1.00[EUR][1000 genomes]
rs7896694	1.00[EUR][1000 genomes]
rs7902727	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7910727	1.00[EUR][1000 genomes]
rs7917742	1.00[EUR][1000 genomes]
rs7921186	1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes]
rs7923632	1.00[EUR][1000 genomes]
rs9663345	1.00[EUR][1000 genomes]
rs9665575	1.00[EUR][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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv895376	chr10:50480164-50557211	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50507400-50513800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
2	chr10:50507800-50511800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr10:50508800-50514400	Enhancers	Psoas Muscle	Psoas
4	chr10:50509200-50515400	Enhancers	Right Ventricle	heart
5	chr10:50509200-50517000	Weak transcription	Pancreas	Pancrea
6	chr10:50509400-50512000	Enhancers	Right Atrium	heart
7	chr10:50509400-50512800	Enhancers	Fetal Heart	heart
8	chr10:50509400-50515200	Enhancers	Left Ventricle	heart
9	chr10:50510400-50513200	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
10	chr10:50511000-50512400	Enhancers	K562	blood
11	chr10:50511200-50512000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr10:50511200-50512000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:50511200-50512200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr10:50511200-50512200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr10:50511200-50512200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr10:50511200-50512400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr10:50511400-50512000	Enhancers	Fetal Muscle Trunk	muscle
18	chr10:50511400-50512200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr10:50511400-50512600	Enhancers	Fetal Muscle Leg	muscle

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