Variant report

Variant	rs11598768
Chromosome Location	chr10:50346410-50346411
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	POLR2A	chr10:50346301-50349044	IMR90	lung:	n/a	n/a
2	MAFK	chr10:50346394-50348464	IMR90	lung:	n/a	n/a
3	RAD21	chr10:50346399-50348752	IMR90	lung:	n/a	chr10:50347071-50347084
4	CTCF	chr10:50346400-50346550	AG09319	gingival:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50345704..50347282-chr10:50347596..50350389,2	K562	blood:
2	chr10:50341771..50344266-chr10:50346312..50348663,3	K562	blood:

Variant related genes	Relation type
FAM170B	TF binding region
ENSG00000172538	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11100995	0.96[ASN][1000 genomes]
rs11592541	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11592975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11594275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11594452	0.96[ASN][1000 genomes]
rs11597087	0.87[EUR][1000 genomes]
rs11597983	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12243520	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17782866	1.00[ASN][1000 genomes]
rs1806681	0.86[ASN][1000 genomes]
rs2246796	0.90[ASN][1000 genomes]
rs2377981	0.96[ASN][1000 genomes]
rs2377982	0.96[ASN][1000 genomes]
rs2377983	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377984	0.96[ASN][1000 genomes]
rs3750744	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073200	0.96[ASN][1000 genomes]
rs4073201	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073202	0.96[ASN][1000 genomes]
rs41306832	0.96[ASN][1000 genomes]
rs4272720	0.90[ASN][1000 genomes]
rs4284329	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4838455	0.96[ASN][1000 genomes]
rs4838458	0.96[ASN][1000 genomes]
rs4838464	0.86[ASN][1000 genomes]
rs55687538	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55783415	0.93[ASN][1000 genomes]
rs55890352	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56364323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56737365	0.96[ASN][1000 genomes]
rs57286767	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59728475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61060205	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7081097	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7088006	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7094501	0.96[ASN][1000 genomes]
rs7097375	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73302715	0.96[ASN][1000 genomes]
rs73302716	0.96[ASN][1000 genomes]
rs73302780	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73302786	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73304754	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7895212	0.93[ASN][1000 genomes]
rs7924204	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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	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

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50340400-50347600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:50342200-50347000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:50342200-50349800	Enhancers	Fetal Lung	lung
4	chr10:50343000-50357800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr10:50343800-50346800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr10:50344000-50347600	Weak transcription	Right Ventricle	heart
7	chr10:50344200-50346600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr10:50344200-50346800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr10:50344200-50346800	Weak transcription	Right Atrium	heart
10	chr10:50344200-50347600	Weak transcription	Esophagus	oesophagus
11	chr10:50344200-50352200	Weak transcription	Fetal Thymus	thymus
12	chr10:50344400-50347400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr10:50345600-50347000	Weak transcription	K562	blood
14	chr10:50345600-50349600	Enhancers	Fetal Muscle Leg	muscle
15	chr10:50345800-50349000	Enhancers	Fetal Stomach	stomach
16	chr10:50345800-50349200	Enhancers	Fetal Muscle Trunk	muscle
17	chr10:50346000-50346800	Enhancers	NHDF-Ad	bronchial
18	chr10:50346200-50346600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr10:50346200-50346800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:50346200-50346800	Enhancers	Osteobl	bone
21	chr10:50346200-50347200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:50346200-50347400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr10:50346200-50347400	Enhancers	NH-A	brain
24	chr10:50346200-50349000	Enhancers	Adipose Nuclei	Adipose
25	chr10:50346200-50349800	Enhancers	NHLF	lung
26	chr10:50346200-50354400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:50346400-50346800	Weak transcription	Left Ventricle	heart
28	chr10:50346400-50347000	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr10:50346400-50347400	Enhancers	HSMM	muscle
30	chr10:50346400-50347600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr10:50346400-50347800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr10:50346400-50349600	Enhancers	Ovary	ovary

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