Variant report

Variant	rs201799
Chromosome Location	chr13:50953654-50953655
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50946211..50948229-chr13:50950966..50953692,2	K562	blood:
2	chr13:50951881..50954647-chr13:50955074..50957243,3	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1262871	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149874	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs183911	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs188014	0.92[ASN][1000 genomes]
rs200219	0.92[ASN][1000 genomes]
rs200220	0.92[ASN][1000 genomes]
rs200225	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs201797	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs201800	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs201803	0.85[ASN][1000 genomes]
rs2532974	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2812218	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2812219	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3095160	0.84[EUR][1000 genomes]
rs988872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832609	chr13:50946577-51065968	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50950000-50954000	Enhancers	Fetal Thymus	thymus
2	chr13:50950200-50954800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr13:50950400-50967200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:50950800-50954800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:50951600-50961000	Weak transcription	Pancreas	Pancrea
6	chr13:50952200-50954200	Enhancers	HSMMtube	muscle
7	chr13:50952400-50954400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:50952400-50954800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr13:50952600-50953800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr13:50952600-50954000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:50952800-50954000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr13:50952800-50954200	Enhancers	Liver	Liver
13	chr13:50952800-50954400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr13:50952800-50959600	Weak transcription	Fetal Heart	heart
15	chr13:50953000-50954800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr13:50953000-50955200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr13:50953200-50953800	Enhancers	Dnd41	blood
18	chr13:50953200-50958600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr13:50953400-50953800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr13:50953400-50954200	Enhancers	HSMM	muscle
21	chr13:50953400-50954600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr13:50953400-50954800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr13:50953600-50953800	Enhancers	Fetal Muscle Leg	muscle
24	chr13:50953600-50953800	Enhancers	Osteobl	bone
25	chr13:50953600-50954000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr13:50953600-50954400	Enhancers	Psoas Muscle	Psoas
27	chr13:50953600-50956200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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