Variant report

Variant	rs2532973
Chromosome Location	chr13:50953446-50953447
allele	A/C
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:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DLEU7-8	chr13:50952495-50953503	NONHSAT033841

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1326125	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs1410113	0.84[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs2109236	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2532966	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2532977	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2580182	0.83[EUR][1000 genomes]
rs2703079	0.81[CHB][hapmap]
rs2740541	0.84[ASN][1000 genomes]
rs2762059	0.82[JPT][hapmap]
rs2762064	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2812221	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4941672	0.80[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2532973	THSD1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50943000-50953600	Weak transcription	Psoas Muscle	Psoas
2	chr13:50950000-50954000	Enhancers	Fetal Thymus	thymus
3	chr13:50950200-50954800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr13:50950400-50967200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:50950800-50954800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr13:50951600-50961000	Weak transcription	Pancreas	Pancrea
7	chr13:50952200-50954200	Enhancers	HSMMtube	muscle
8	chr13:50952400-50954400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:50952400-50954800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr13:50952600-50953800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr13:50952600-50954000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr13:50952800-50953600	Enhancers	Primary T cells from cord blood	blood
13	chr13:50952800-50954000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:50952800-50954200	Enhancers	Liver	Liver
15	chr13:50952800-50954400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr13:50952800-50959600	Weak transcription	Fetal Heart	heart
17	chr13:50953000-50953600	Enhancers	Thymus	Thymus
18	chr13:50953000-50953600	Weak transcription	Osteobl	bone
19	chr13:50953000-50954800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr13:50953000-50955200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr13:50953200-50953600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr13:50953200-50953800	Enhancers	Dnd41	blood
23	chr13:50953200-50958600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr13:50953400-50953800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr13:50953400-50954200	Enhancers	HSMM	muscle
26	chr13:50953400-50954600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr13:50953400-50954800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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