Variant report

Variant	rs73835511
Chromosome Location	chr3:50532900-50532901
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:50530219..50535037-chr3:50540478..50544078,4	K562	blood:
2	chr3:50531296..50533562-chr3:50538381..50540201,2	K562	blood:

Variant related genes	Relation type
ENSG00000007402	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12494849	0.84[EUR][1000 genomes]
rs1467913	0.83[EUR][1000 genomes]
rs1467914	0.84[EUR][1000 genomes]
rs2027854	0.80[EUR][1000 genomes]
rs34434811	0.81[AMR][1000 genomes]
rs34704833	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34762184	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34860383	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35053615	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35198275	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35335661	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35684775	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35829757	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35864641	0.81[AMR][1000 genomes]
rs35908181	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35986136	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36046126	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36059704	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4533647	0.81[AMR][1000 genomes]
rs57361338	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58432784	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61018691	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61423002	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6786523	0.84[EUR][1000 genomes]
rs6787890	0.80[EUR][1000 genomes]
rs6788459	0.80[EUR][1000 genomes]
rs6792502	0.87[EUR][1000 genomes]
rs6807916	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71326934	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73835517	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7613931	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs763030	0.87[EUR][1000 genomes]
rs8180034	0.80[EUR][1000 genomes]
rs9867588	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
6	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50522000-50533600	Weak transcription	Lung	lung
2	chr3:50528800-50534200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:50529000-50539600	Weak transcription	Right Atrium	heart
4	chr3:50529800-50533600	Weak transcription	Fetal Heart	heart
5	chr3:50529800-50533600	Weak transcription	Gastric	stomach
6	chr3:50529800-50539400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr3:50529800-50540000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:50530000-50534200	Weak transcription	Right Ventricle	heart
9	chr3:50530000-50538600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:50530800-50535800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:50530800-50537600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:50531000-50533000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr3:50531200-50533000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:50531200-50534200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr3:50531600-50533000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr3:50531600-50533000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr3:50531600-50536800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:50532200-50535600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr3:50532400-50533400	Enhancers	Fetal Muscle Leg	muscle
20	chr3:50532400-50533600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr3:50532400-50536200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr3:50532600-50533200	Bivalent Enhancer	Placenta	Placenta
23	chr3:50532600-50533600	Enhancers	Fetal Brain Male	brain
24	chr3:50532800-50533000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr3:50532800-50533000	Enhancers	Fetal Lung	lung
26	chr3:50532800-50533400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr3:50532800-50533800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:50532800-50534000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr3:50532800-50534200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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