Variant report

Variant	rs3761036
Chromosome Location	chr19:18668135-18668136
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr19:18668084-18669265	MCF-7	breast:	n/a	n/a
2	MYBL2	chr19:18668069-18668726	HepG2	liver:	n/a	n/a
3	YY1	chr19:18667933-18668978	GM12892	blood:	n/a	chr19:18668674-18668688 chr19:18668762-18668773 chr19:18668779-18668788
4	POLR2A	chr19:18668087-18669782	GM12891	blood:	n/a	n/a
5	MTA3	chr19:18668078-18669858	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:18667793-18670191	GM12892	blood:	n/a	n/a
7	POLR2A	chr19:18667779-18668175	Hela-S3	cervix:	n/a	n/a
8	RPC155	chr19:18667499-18668591	Hela-S3	cervix:	n/a	n/a
9	ELF1	chr19:18668125-18669223	GM12878	blood:	n/a	chr19:18668689-18668700 chr19:18668689-18668700 chr19:18668691-18668700 chr19:18668690-18668699
10	POLR2A	chr19:18668089-18669789	GM12892	blood:	n/a	n/a
11	POLR2A	chr19:18668110-18669945	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:18668131-18669078	MCF-7	breast:	n/a	n/a
13	SP1	chr19:18668133-18668875	A549	lung:	n/a	chr19:18668578-18668592 chr19:18668825-18668835 chr19:18668757-18668766 chr19:18668578-18668587 chr19:18668577-18668589 chr19:18668577-18668589
14	ELF1	chr19:18668093-18669190	HCT-116	colon:	n/a	chr19:18668689-18668700 chr19:18668689-18668700 chr19:18668691-18668700 chr19:18668690-18668699
15	POLR2A	chr19:18667747-18669165	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr19:18667864-18669654	Hela-S3	cervix:	n/a	n/a
17	ELF1	chr19:18668094-18669039	MCF-7	breast:	n/a	chr19:18668689-18668700 chr19:18668689-18668700 chr19:18668691-18668700 chr19:18668690-18668699
18	ELF1	chr19:18668086-18669170	HCT-116	colon:	n/a	chr19:18668689-18668700 chr19:18668689-18668700 chr19:18668691-18668700 chr19:18668690-18668699
19	PML	chr19:18668069-18669226	GM12878	blood:	n/a	n/a
20	ZNF384	chr19:18668129-18668798	GM12878	blood:	n/a	n/a
21	POLR2A	chr19:18667728-18668144	HCT-116	colon:	n/a	n/a
22	GTF3C2	chr19:18667325-18668530	Hela-S3	cervix:	n/a	n/a
23	NFIC	chr19:18668124-18668643	GM12878	blood:	n/a	n/a
24	FOXM1	chr19:18668120-18668782	GM12878	blood:	n/a	n/a
25	REST	chr19:18668065-18669369	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr19:18668056-18669102	HepG2	liver:	n/a	n/a
27	TCF7L2	chr19:18667835-18668677	Hela-S3	cervix:	n/a	n/a
28	RCOR1	chr19:18667650-18669920	IMR90	lung:	n/a	n/a
29	POLR2A	chr19:18667798-18668148	HCT-116	colon:	n/a	n/a
30	TCF12	chr19:18668120-18668968	A549	lung:	n/a	n/a
31	TBP	chr19:18667859-18668674	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr19:18668083-18669093	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr19:18668085-18669872	SK-N-MC	brain:	n/a	n/a
34	MAX	chr19:18668120-18668997	HepG2	liver:	n/a	chr19:18668635-18668644
35	TAF1	chr19:18667799-18668152	Hela-S3	cervix:	n/a	n/a
36	ESRRA	chr19:18668009-18669888	GM12878	blood:	n/a	n/a
37	MAX	chr19:18667761-18668845	Hela-S3	cervix:	n/a	chr19:18668635-18668644
38	BCLAF1	chr19:18668135-18668939	GM12878	blood:	n/a	chr19:18668775-18668788
39	MBD4	chr19:18668120-18668534	HepG2	liver:	n/a	n/a
40	POLR2A	chr19:18667761-18668142	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr19:18667733-18669084	GM12878	blood:	n/a	n/a
42	MXI1	chr19:18668131-18669872	IMR90	lung:	n/a	n/a
43	MXI1	chr19:18668081-18669629	SK-N-SH	brain:	n/a	n/a
44	ZNF384	chr19:18668126-18668716	K562	blood:	n/a	n/a
45	HCFC1	chr19:18667653-18669743	Hela-S3	cervix:	n/a	n/a
46	MTA3	chr19:18668135-18668663	GM12878	blood:	n/a	n/a
47	NR2F2	chr19:18667902-18669718	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:18631459..18633367-chr19:18667345..18670376,4	K562	blood:
2	chr19:18546792..18548978-chr19:18667741..18669982,2	K562	blood:
3	chr19:18667076..18669031-chr19:18699935..18702117,2	K562	blood:
4	chr19:18630485..18634839-chr19:18666846..18671916,7	MCF-7	breast:
5	chr19:18652388..18655450-chr19:18667016..18670630,4	K562	blood:
6	chr19:18666812..18670172-chr19:18680715..18684041,6	MCF-7	breast:
7	chr19:18653032..18656930-chr19:18667045..18670995,8	MCF-7	breast:
8	chr19:18630548..18633267-chr19:18667345..18670044,3	K562	blood:
9	chr19:18667424..18670168-chr19:18699281..18701481,3	MCF-7	breast:
10	chr19:18667097..18671007-chr19:18677068..18684435,17	K562	blood:
11	chr19:18649378..18653671-chr19:18667425..18670328,5	MCF-7	breast:
12	chr19:18667882..18668653-chr6:86388042..86388763,2	HCT-116	colon:
13	chr19:18667740..18670829-chr19:18672165..18676171,4	K562	blood:
14	chr19:18666965..18674770-chr19:18676405..18685095,25	K562	blood:

Variant related genes	Relation type
KXD1	TF binding region
ENSG00000105656	Chromatin interaction
ENSG00000105701	Chromatin interaction
ENSG00000268983	Chromatin interaction
ENSG00000221983	Chromatin interaction
ENSG00000268030	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000006015	Chromatin interaction
ENSG00000203875	Chromatin interaction
ENSG00000105700	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10402321	0.87[ASN][1000 genomes]
rs10414427	0.86[ASN][1000 genomes]
rs10425018	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11086114	0.97[ASN][1000 genomes]
rs11086116	0.89[ASN][1000 genomes]
rs11667551	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11672297	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12150991	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12608925	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12609505	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1468475	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2057649	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2058077	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2079015	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2079016	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2283616	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2302055	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2314664	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2314665	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2314666	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2314667	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28451415	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28711754	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28884574	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35867875	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35875334	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36050418	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3761034	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3803917	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4629093	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4808137	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4808821	0.83[ASN][1000 genomes]
rs55724121	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55888366	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58782998	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59798925	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62137086	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6554	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7253088	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7254004	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7258480	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7648	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8110371	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8110374	0.91[EUR][1000 genomes];0.88[ASN][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	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	nsv1061733	chr19:18574940-18679155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1055794	chr19:18611545-18676933	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv911281	chr19:18613917-18758255	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
9	nsv911283	chr19:18626732-18689830	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
10	nsv833776	chr19:18638028-18782264	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
11	nsv911284	chr19:18643036-18684216	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
12	nsv911286	chr19:18652844-18811112	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3761036	UBA52	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18663200-18668400	Weak transcription	Esophagus	oesophagus
2	chr19:18667600-18668200	Enhancers	Primary T cells fromperipheralblood	blood
3	chr19:18667600-18668200	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr19:18667600-18669600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:18667800-18668200	Enhancers	Primary B cells from peripheral blood	blood
6	chr19:18667800-18668200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr19:18667800-18668200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:18667800-18668400	Flanking Active TSS	Placenta	Placenta
9	chr19:18667800-18669200	Active TSS	Hela-S3	cervix
10	chr19:18667800-18669400	Active TSS	HSMM	muscle
11	chr19:18668000-18668200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:18668000-18668200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:18668000-18668200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr19:18668000-18668200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr19:18668000-18668200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr19:18668000-18668200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr19:18668000-18668200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:18668000-18668200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr19:18668000-18668200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr19:18668000-18668200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:18668000-18668200	Enhancers	Adipose Nuclei	Adipose
22	chr19:18668000-18668200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr19:18668000-18668200	Enhancers	Fetal Muscle Leg	muscle
24	chr19:18668000-18668200	Enhancers	Fetal Thymus	thymus
25	chr19:18668000-18668200	Enhancers	Pancreas	Pancrea
26	chr19:18668000-18668200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr19:18668000-18668200	Enhancers	Right Ventricle	heart
28	chr19:18668000-18668200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr19:18668000-18668200	Enhancers	HepG2	liver
30	chr19:18668000-18668200	Enhancers	HMEC	breast
31	chr19:18668000-18668400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:18668000-18668400	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr19:18668000-18668400	Flanking Active TSS	Dnd41	blood
34	chr19:18668000-18668400	Flanking Active TSS	GM12878-XiMat	blood
35	chr19:18668000-18668400	Flanking Active TSS	K562	blood
36	chr19:18668000-18668600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr19:18668000-18668800	Active TSS	H1 Cell Line	embryonic stem cell
38	chr19:18668000-18668800	Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr19:18668000-18668800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr19:18668000-18669000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:18668000-18669000	Active TSS	Brain Angular Gyrus	brain
42	chr19:18668000-18669000	Active TSS	Brain Cingulate Gyrus	brain
43	chr19:18668000-18669000	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr19:18668000-18669000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:18668000-18669200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:18668000-18669200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr19:18668000-18669200	Active TSS	Duodenum Mucosa	Duodenum
48	chr19:18668000-18669200	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr19:18668000-18669200	Active TSS	Rectal Smooth Muscle	rectum
50	chr19:18668000-18669400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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