Variant report

Variant	rs73495815
Chromosome Location	chr13:50781061-50781062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50771906..50774458-chr13:50779802..50781441,2	K562	blood:
2	chr13:50776716..50778280-chr13:50780135..50782441,2	K562	blood:
3	chr13:50763810..50766462-chr13:50779794..50782094,2	K562	blood:
4	chr13:50771156..50773406-chr13:50779661..50781302,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1086510	1.00[EUR][1000 genomes]
rs1149854	1.00[EUR][1000 genomes]
rs1149855	1.00[EUR][1000 genomes]
rs1149856	1.00[EUR][1000 genomes]
rs1241386	1.00[EUR][1000 genomes]
rs2252794	1.00[EUR][1000 genomes]
rs2472595	1.00[EUR][1000 genomes]
rs2740536	1.00[EUR][1000 genomes]
rs2760916	1.00[EUR][1000 genomes]
rs2760917	1.00[EUR][1000 genomes]
rs2762044	1.00[EUR][1000 genomes]
rs2762062	1.00[EUR][1000 genomes]
rs55929963	1.00[EUR][1000 genomes]
rs55987657	1.00[EUR][1000 genomes]
rs56277884	1.00[EUR][1000 genomes]
rs56285935	1.00[EUR][1000 genomes]
rs56794415	1.00[EUR][1000 genomes]
rs57938299	1.00[EUR][1000 genomes]
rs58214088	1.00[EUR][1000 genomes]
rs58364236	1.00[EUR][1000 genomes]
rs58521176	1.00[EUR][1000 genomes]
rs58911842	1.00[EUR][1000 genomes]
rs59563441	1.00[EUR][1000 genomes]
rs59729773	1.00[EUR][1000 genomes]
rs59951137	1.00[EUR][1000 genomes]
rs60016474	1.00[EUR][1000 genomes]
rs60147627	1.00[EUR][1000 genomes]
rs60154020	1.00[EUR][1000 genomes]
rs61382687	1.00[EUR][1000 genomes]
rs61495306	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs706607	1.00[EUR][1000 genomes]
rs706612	1.00[EUR][1000 genomes]
rs7330228	1.00[EUR][1000 genomes]
rs7336462	1.00[EUR][1000 genomes]
rs73494087	1.00[EUR][1000 genomes]
rs73495825	1.00[EUR][1000 genomes]
rs73495852	1.00[EUR][1000 genomes]
rs73495865	1.00[EUR][1000 genomes]
rs73495869	1.00[EUR][1000 genomes]
rs73495873	1.00[EUR][1000 genomes]
rs73495880	1.00[EUR][1000 genomes]
rs73495885	1.00[EUR][1000 genomes]
rs73495888	1.00[EUR][1000 genomes]
rs73495900	1.00[EUR][1000 genomes]
rs73498015	1.00[EUR][1000 genomes]
rs73498022	1.00[EUR][1000 genomes]
rs73498030	1.00[EUR][1000 genomes]
rs73498061	1.00[EUR][1000 genomes]
rs73498091	1.00[EUR][1000 genomes]
rs73498093	1.00[EUR][1000 genomes]
rs73498096	1.00[EUR][1000 genomes]
rs73500213	1.00[EUR][1000 genomes]
rs73500225	1.00[EUR][1000 genomes]
rs73500236	1.00[EUR][1000 genomes]
rs73500241	1.00[EUR][1000 genomes]
rs73500242	1.00[EUR][1000 genomes]
rs73500246	1.00[EUR][1000 genomes]
rs73500250	1.00[EUR][1000 genomes]
rs73500259	1.00[EUR][1000 genomes]
rs73500262	1.00[EUR][1000 genomes]
rs73500270	1.00[EUR][1000 genomes]
rs73500278	1.00[EUR][1000 genomes]
rs73500279	1.00[EUR][1000 genomes]
rs74079205	1.00[EUR][1000 genomes]
rs74079217	1.00[EUR][1000 genomes]
rs790936	1.00[EUR][1000 genomes]
rs790938	1.00[EUR][1000 genomes]
rs7981983	1.00[EUR][1000 genomes]
rs7990648	1.00[EUR][1000 genomes]
rs7992306	1.00[EUR][1000 genomes]
rs7996036	1.00[EUR][1000 genomes]
rs9591331	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv1041501	chr13:50683189-50795195	Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv561631	chr13:50761619-50846748	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50760600-50789200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:50767000-50782800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr13:50767000-50783000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr13:50767600-50782800	Weak transcription	Gastric	stomach
5	chr13:50767800-50782800	Weak transcription	Colonic Mucosa	Colon
6	chr13:50770800-50783000	Weak transcription	Spleen	Spleen
7	chr13:50773000-50782400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:50773000-50782400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr13:50773200-50782400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:50774800-50782400	Weak transcription	Fetal Muscle Leg	muscle
11	chr13:50775000-50782800	Weak transcription	Ovary	ovary
12	chr13:50775200-50782600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr13:50775600-50782200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:50775600-50786400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr13:50775800-50782400	Weak transcription	Right Ventricle	heart
16	chr13:50776400-50782600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr13:50776800-50782600	Weak transcription	Fetal Heart	heart
18	chr13:50777000-50782400	Weak transcription	Right Atrium	heart
19	chr13:50777800-50782000	Weak transcription	K562	blood
20	chr13:50777800-50782400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr13:50777800-50782600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr13:50778000-50782000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr13:50778000-50782800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr13:50778200-50782600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr13:50778400-50782600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr13:50778400-50782600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr13:50778400-50782600	Weak transcription	Fetal Stomach	stomach
28	chr13:50778600-50782600	Weak transcription	Fetal Lung	lung
29	chr13:50778600-50782800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:50778600-50782800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr13:50780200-50782400	Weak transcription	HepG2	liver
32	chr13:50780400-50781400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr13:50780800-50782600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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