Variant report

Variant	rs56387457
Chromosome Location	chr10:50505987-50505988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr10:50505840-50509021	K562	blood:	n/a	n/a
2	JUND	chr10:50505916-50506398	K562	blood:	n/a	n/a
3	POLR2A	chr10:50505984-50509599	K562	blood:	n/a	n/a
4	BHLHE40	chr10:50505806-50506808	K562	blood:	n/a	n/a
5	HCFC1	chr10:50505846-50506245	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:50384969..50387621-chr10:50504946..50509741,4	K562	blood:
2	chr10:49718293..49721279-chr10:50504590..50507564,3	K562	blood:
3	chr10:50502394..50506143-chr10:50506646..50509151,5	MCF-7	breast:
4	chr10:50475958..50477479-chr10:50504805..50506653,2	K562	blood:

No data

Variant related genes	Relation type
C10orf71	TF binding region
ENSG00000204161	Chromatin interaction
ENSG00000248682	Chromatin interaction
ENSG00000236208	Chromatin interaction
ENSG00000177354	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10732630	0.90[EUR][1000 genomes]
rs10732631	0.90[EUR][1000 genomes]
rs10735220	0.83[EUR][1000 genomes]
rs10735221	0.90[EUR][1000 genomes]
rs10745257	0.87[EUR][1000 genomes]
rs10776550	0.87[EUR][1000 genomes]
rs10776551	0.86[EUR][1000 genomes]
rs10776553	0.90[EUR][1000 genomes]
rs10776555	0.82[EUR][1000 genomes]
rs10857454	0.85[EUR][1000 genomes]
rs10857455	0.87[EUR][1000 genomes]
rs10857456	0.87[EUR][1000 genomes]
rs10857458	0.90[EUR][1000 genomes]
rs10857460	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11101075	0.90[EUR][1000 genomes]
rs11101076	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11101085	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11101086	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1122560	0.97[ASN][1000 genomes]
rs12254955	0.90[EUR][1000 genomes]
rs17009669	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17009755	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17009880	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17009886	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2377975	0.90[EUR][1000 genomes]
rs2377977	0.90[EUR][1000 genomes]
rs2377978	0.90[EUR][1000 genomes]
rs2889782	0.80[EUR][1000 genomes]
rs3996894	0.90[EUR][1000 genomes]
rs3996895	0.90[EUR][1000 genomes]
rs4297382	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4310533	0.90[EUR][1000 genomes]
rs4478905	0.83[EUR][1000 genomes]
rs4483512	0.90[EUR][1000 genomes]
rs4582889	0.87[EUR][1000 genomes]
rs4600130	0.87[EUR][1000 genomes]
rs4838376	0.85[EUR][1000 genomes]
rs4838377	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4838479	0.90[EUR][1000 genomes]
rs4838480	0.90[EUR][1000 genomes]
rs4838481	0.90[EUR][1000 genomes]
rs4838482	0.90[EUR][1000 genomes]
rs4838483	0.90[EUR][1000 genomes]
rs4838485	0.90[EUR][1000 genomes]
rs4838486	0.90[EUR][1000 genomes]
rs55892993	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56165245	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56203859	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61519033	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6537519	0.88[EUR][1000 genomes]
rs6537520	0.90[EUR][1000 genomes]
rs7068959	0.87[EUR][1000 genomes]
rs7082585	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7085410	0.88[EUR][1000 genomes]
rs7098191	0.90[EUR][1000 genomes]
rs73308728	0.88[EUR][1000 genomes]
rs73308730	0.87[EUR][1000 genomes]
rs73308731	0.88[EUR][1000 genomes]
rs7905866	0.90[EUR][1000 genomes]
rs7911371	0.90[EUR][1000 genomes]
rs7911514	0.90[EUR][1000 genomes]
rs7913006	0.90[EUR][1000 genomes]
rs7913851	0.90[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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50500600-50507800	Weak transcription	Lung	lung
2	chr10:50501800-50506000	Weak transcription	Pancreas	Pancrea
3	chr10:50501800-50507400	Weak transcription	Spleen	Spleen
4	chr10:50503000-50506400	Enhancers	Psoas Muscle	Psoas
5	chr10:50503000-50508200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:50503200-50506400	Weak transcription	Adipose Nuclei	Adipose
7	chr10:50503400-50506200	Enhancers	Right Atrium	heart
8	chr10:50503600-50507200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:50504200-50506800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr10:50504200-50507000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr10:50504400-50507200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr10:50504600-50506000	Enhancers	Left Ventricle	heart
13	chr10:50504600-50506200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr10:50504600-50506800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:50504800-50506000	Enhancers	HSMMtube	muscle
16	chr10:50504800-50506400	Weak transcription	Right Ventricle	heart
17	chr10:50504800-50511200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr10:50505000-50506000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr10:50505000-50507400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr10:50505000-50507600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr10:50505000-50508000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr10:50505200-50506600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:50505600-50506600	Bivalent Enhancer	Fetal Stomach	stomach
24	chr10:50505800-50506000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr10:50505800-50506000	Bivalent Enhancer	Fetal Lung	lung
26	chr10:50505800-50506200	Enhancers	Primary B cells from peripheral blood	blood
27	chr10:50505800-50506200	Enhancers	Fetal Heart	heart
28	chr10:50505800-50508000	Flanking Active TSS	Fetal Muscle Trunk	muscle
29	chr10:50505800-50509000	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr10:50505800-50509600	Flanking Active TSS	K562	blood

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