Variant report

Variant	rs35986136
Chromosome Location	chr3:50535221-50535222
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50533524..50536565-chr3:50538127..50541081,4	K562	blood:
2	chr3:50533858..50535548-chr3:50544600..50546430,2	MCF-7	breast:
3	chr3:50526765..50528739-chr3:50533687..50536379,2	MCF-7	breast:
4	chr3:50535065..50537088-chr3:50538835..50541357,2	K562	blood:

Variant related genes	Relation type
ENSG00000007402	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1107265	0.82[CEU][hapmap]
rs12490042	0.88[CEU][hapmap]
rs12494849	0.94[CEU][hapmap];0.88[GIH][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs13087550	0.88[CEU][hapmap]
rs1467913	0.94[CEU][hapmap];0.88[GIH][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs1467914	0.94[CEU][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs2027854	0.80[EUR][1000 genomes]
rs2236953	0.88[CEU][hapmap]
rs2236954	0.87[CEU][hapmap]
rs2236955	0.82[CEU][hapmap]
rs2236956	0.88[CEU][hapmap]
rs2236957	0.82[CEU][hapmap]
rs2236958	0.87[CEU][hapmap]
rs2236959	0.82[CEU][hapmap]
rs2236961	0.88[CEU][hapmap]
rs2236963	0.88[CEU][hapmap]
rs2236964	0.82[CEU][hapmap]
rs2236965	0.82[CEU][hapmap]
rs2236967	0.88[CEU][hapmap]
rs2236968	0.88[CEU][hapmap]
rs2236971	0.85[CEU][hapmap]
rs2236973	0.82[CEU][hapmap]
rs2236975	0.88[CEU][hapmap]
rs2236979	0.82[CEU][hapmap]
rs2236984	0.82[CEU][hapmap]
rs2236987	0.82[CEU][hapmap]
rs2236988	0.88[CEU][hapmap]
rs2282752	0.87[CEU][hapmap]
rs2282753	0.82[CEU][hapmap]
rs2282754	0.82[CEU][hapmap]
rs2282756	0.88[CEU][hapmap]
rs2282758	0.88[CEU][hapmap]
rs2298955	0.82[CEU][hapmap]
rs34434811	0.85[AMR][1000 genomes]
rs34704833	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34762184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34860383	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35053615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35198275	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35335661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35684775	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35829757	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35864641	0.85[AMR][1000 genomes]
rs35908181	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36046126	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36059704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4533647	0.85[AMR][1000 genomes]
rs4688719	0.94[CEU][hapmap]
rs57361338	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58432784	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61018691	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61423002	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6786523	0.94[CEU][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs6787890	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs6788459	0.80[EUR][1000 genomes]
rs6792502	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs6807916	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71326934	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73082948	0.80[AMR][1000 genomes]
rs734767	0.82[CEU][hapmap]
rs73835511	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73835517	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs743756	0.82[CEU][hapmap]
rs743757	0.82[CEU][hapmap]
rs743857	0.82[CEU][hapmap]
rs7613931	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs762895	0.88[CEU][hapmap]
rs762897	0.94[CEU][hapmap]
rs762898	0.88[CEU][hapmap]
rs763030	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs8180034	0.80[EUR][1000 genomes]
rs916217	0.88[CEU][hapmap]
rs929047	0.88[CEU][hapmap]
rs9835537	0.82[CEU][hapmap]
rs9867588	1.00[CEU][hapmap];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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs35986136	PARP3	cis	parietal	SCAN
rs35986136	HYAL2	cis	parietal	SCAN
rs35986136	APEH	cis	cerebellum	SCAN
rs35986136	CAMP	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50529000-50539600	Weak transcription	Right Atrium	heart
2	chr3:50529800-50539400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr3:50529800-50540000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:50530000-50538600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:50530800-50535800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:50530800-50537600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:50531600-50536800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:50532200-50535600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:50532400-50536200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:50533600-50535600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:50533800-50535400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:50533800-50536200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:50533800-50536200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:50534000-50535800	Weak transcription	Fetal Muscle Leg	muscle
15	chr3:50534000-50536400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr3:50534000-50537800	Weak transcription	Lung	lung
17	chr3:50534000-50539400	Weak transcription	Gastric	stomach
18	chr3:50534200-50536200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr3:50534200-50536200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:50534800-50536200	Enhancers	Fetal Stomach	stomach
21	chr3:50535200-50536600	Enhancers	Fetal Lung	lung

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