Variant report

Variant	rs11667551
Chromosome Location	chr19:18682342-18682343
allele	C/T
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	MAX	chr19:18682188-18682938	K562	blood:	n/a	chr19:18682521-18682528 chr19:18682520-18682529 chr19:18682519-18682529
2	HDAC2	chr19:18682112-18682793	MCF-7	breast:	n/a	n/a
3	POLR2A	chr19:18682051-18683041	MCF-7	breast:	n/a	n/a
4	E2F4	chr19:18681638-18683070	MCF10A-Er-Src	breast:	n/a	chr19:18682942-18682954 chr19:18682479-18682488 chr19:18682621-18682630
5	GTF2F1	chr19:18682269-18682784	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr19:18682141-18683044	GM18505	blood:	n/a	n/a
7	EP300	chr19:18682235-18682738	GM12878	blood:	n/a	n/a
8	TBL1XR1	chr19:18682281-18682879	GM12878	blood:	n/a	n/a
9	USF1	chr19:18682160-18682850	HCT-116	colon:	n/a	chr19:18682465-18682476 chr19:18682760-18682776
10	SP4	chr19:18682100-18682822	H1-hESC	embryonic stem cell:	n/a	n/a
11	MYC	chr19:18682308-18682924	K562	blood:	n/a	chr19:18682521-18682528 chr19:18682520-18682529 chr19:18682519-18682529
12	POLR2A	chr19:18682097-18683045	H1-neurons	neurons:	n/a	n/a
13	MYC	chr19:18682146-18683014	A549	lung:	n/a	chr19:18682521-18682528 chr19:18682520-18682529 chr19:18682519-18682529
14	TEAD4	chr19:18682252-18682904	K562	blood:	n/a	n/a
15	SIN3AK20	chr19:18682124-18683280	K562	blood:	n/a	n/a
16	NRF1	chr19:18682106-18682882	SK-N-SH	brain:	n/a	chr19:18682620-18682629 chr19:18682617-18682631 chr19:18682619-18682630 chr19:18682479-18682488 chr19:18682620-18682631
17	FOXP2	chr19:18682335-18682961	PFSK-1	brain:	n/a	n/a
18	CEBPB	chr19:18682145-18682687	K562	blood:	n/a	n/a
19	POLR2A	chr19:18682135-18683047	GM19193	blood:	n/a	n/a
20	POLR2A	chr19:18681813-18682888	K562	blood:	n/a	n/a
21	CREB1	chr19:18682128-18683143	GM12878	blood:	n/a	n/a
22	ETS1	chr19:18682324-18682736	A549	lung:	n/a	chr19:18682651-18682660 chr19:18682495-18682504 chr19:18682495-18682504 chr19:18682495-18682504 chr19:18682650-18682659 chr19:18682477-18682488 chr19:18682495-18682504 chr19:18682495-18682504 chr19:18682496-18682506 chr19:18682491-18682507 chr19:18682494-18682503 chr19:18682495-18682506 chr19:18682493-18682502 chr19:18682495-18682504 chr19:18682649-18682658
23	POLR2A	chr19:18681890-18683078	GM12878	blood:	n/a	n/a
24	SIX5	chr19:18682284-18682682	H1-hESC	embryonic stem cell:	n/a	n/a
25	MXI1	chr19:18682324-18683008	K562	blood:	n/a	chr19:18682519-18682528
26	STAT3	chr19:18682240-18682535	MCF10A-Er-Src	breast:	n/a	n/a
27	TAF1	chr19:18682141-18683127	ECC-1	luminal epithelium:	n/a	n/a
28	SIX5	chr19:18682271-18682700	K562	blood:	n/a	n/a
29	POLR2A	chr19:18682170-18682963	GM18951	blood:	n/a	n/a
30	MYC	chr19:18682309-18682794	Hela-S3	cervix:	n/a	chr19:18682521-18682528 chr19:18682520-18682529 chr19:18682519-18682529
31	YY1	chr19:18682230-18683083	GM12878	blood:	n/a	chr19:18682542-18682564 chr19:18682560-18682571 chr19:18682555-18682563 chr19:18682548-18682565 chr19:18682547-18682566 chr19:18682554-18682564 chr19:18682553-18682561
32	POLR2A	chr19:18681493-18689919	HepG2	liver:	n/a	n/a
33	E2F4	chr19:18682243-18682754	GM12878	blood:	n/a	chr19:18682479-18682488 chr19:18682621-18682630
34	HCFC1	chr19:18682258-18683026	K562	blood:	n/a	n/a
35	MAZ	chr19:18682141-18683379	IMR90	lung:	n/a	chr19:18682521-18682528 chr19:18682520-18682529 chr19:18682519-18682529
36	STAT3	chr19:18682266-18682466	MCF10A-Er-Src	breast:	n/a	n/a
37	HDAC2	chr19:18682232-18682804	HepG2	liver:	n/a	n/a
38	MYC	chr19:18682295-18682769	K562	blood:	n/a	chr19:18682521-18682528 chr19:18682520-18682529 chr19:18682519-18682529
39	STAT5A	chr19:18682120-18682802	GM12878	blood:	n/a	n/a
40	RAD21	chr19:18682295-18682683	Hela-S3	cervix:	n/a	n/a
41	MAX	chr19:18682069-18683203	ECC-1	luminal epithelium:	n/a	chr19:18682521-18682528 chr19:18682520-18682529 chr19:18682519-18682529
42	RCOR1	chr19:18682271-18682799	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr19:18682191-18682936	GM15510	blood:	n/a	n/a
44	MAZ	chr19:18682260-18682897	GM12878	blood:	n/a	chr19:18682521-18682528 chr19:18682520-18682529 chr19:18682519-18682529
45	ETS1	chr19:18682324-18682912	GM12878	blood:	n/a	chr19:18682651-18682660 chr19:18682495-18682504 chr19:18682495-18682504 chr19:18682495-18682504 chr19:18682650-18682659 chr19:18682477-18682488 chr19:18682495-18682504 chr19:18682495-18682504 chr19:18682496-18682506 chr19:18682491-18682507 chr19:18682494-18682503 chr19:18682495-18682506 chr19:18682493-18682502 chr19:18682495-18682504 chr19:18682649-18682658
46	POLR2A	chr19:18682002-18683085	U87	brain:	n/a	n/a
47	BCLAF1	chr19:18682253-18683013	GM12878	blood:	n/a	chr19:18682495-18682504
48	E2F6	chr19:18682050-18683157	H1-hESC	embryonic stem cell:	n/a	chr19:18682942-18682954 chr19:18682479-18682488 chr19:18682621-18682630
49	SIN3AK20	chr19:18682037-18683059	MCF-7	breast:	n/a	n/a
50	YY1	chr19:18682051-18682860	GM12878	blood:	n/a	chr19:18682542-18682564 chr19:18682560-18682571 chr19:18682555-18682563 chr19:18682548-18682565 chr19:18682547-18682566 chr19:18682554-18682564 chr19:18682553-18682561

No.	Distal block	Cell Line	Cell type
1	chr19:18631257..18635225-chr19:18680941..18684038,5	MCF-7	breast:
2	chr19:18629832..18635572-chr19:18680910..18686315,11	K562	blood:
3	chr19:18548448..18551673-chr19:18681148..18684161,3	K562	blood:
4	chr19:18666965..18674770-chr19:18676405..18685095,25	K562	blood:
5	chr19:18678376..18688390-chr19:18697032..18707656,34	K562	blood:
6	chr19:18651498..18655648-chr19:18680777..18683781,5	MCF-7	breast:
7	chr19:18586402..18589298-chr19:18680966..18684505,3	K562	blood:
8	chr14:102552851..102553436-chr19:18682313..18682926,2	Hela-S3	cervix:
9	chr19:18653470..18656783-chr19:18680897..18684291,6	K562	blood:
10	chr19:18682067..18684109-chr19:19302288..19304450,2	K562	blood:
11	chr19:18681104..18684544-chr19:18745683..18749906,4	K562	blood:
12	chr19:18667097..18671007-chr19:18677068..18684435,17	K562	blood:
13	chr19:18666812..18670172-chr19:18680715..18684041,6	MCF-7	breast:
14	chr19:18628801..18634367-chr19:18680492..18684131,12	MCF-7	breast:
15	chr19:18629832..18634516-chr19:18680910..18685097,11	K562	blood:
16	chr19:18681312..18685117-chr19:18698049..18701447,5	MCF-7	breast:
17	chr19:18651038..18656783-chr19:18680897..18685521,14	K562	blood:

Variant related genes	Relation type
UBA52	TF binding region
ENSG00000268983	TF binding region
ENSG00000105700	Chromatin interaction
ENSG00000064490	Chromatin interaction
ENSG00000080824	Chromatin interaction
ENSG00000006015	Chromatin interaction
ENSG00000213999	Chromatin interaction
ENSG00000105701	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000064489	Chromatin interaction
ENSG00000006016	Chromatin interaction
ENSG00000268030	Chromatin interaction
ENSG00000167487	Chromatin interaction
ENSG00000105656	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10402321	0.85[EUR][1000 genomes]
rs10409392	0.83[EUR][1000 genomes]
rs10414427	0.85[EUR][1000 genomes]
rs10425018	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11086114	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11086116	0.81[ASN][1000 genomes]
rs11672297	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12150991	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12608925	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12609505	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1468475	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2057649	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2058077	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2079015	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2079016	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2283616	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2302055	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2314664	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2314665	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2314666	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2314667	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28451415	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28711754	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35867875	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35875334	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36050418	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3761034	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3761036	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3803917	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4629093	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4808137	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808821	0.91[ASN][1000 genomes]
rs55724121	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55888366	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58782998	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59798925	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62137086	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6554	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7247557	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7253088	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7254004	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7258480	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7648	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
6	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
7	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
8	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
9	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
10	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
rs11667551	UBA52	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18679800-18682600	Weak transcription	Small Intestine	intestine
2	chr19:18680600-18682400	Weak transcription	Gastric	stomach
3	chr19:18680600-18682600	Weak transcription	Spleen	Spleen
4	chr19:18681800-18682400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr19:18681800-18682400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr19:18681800-18682400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:18681800-18682400	Flanking Active TSS	Placenta	Placenta
8	chr19:18681800-18682400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr19:18681800-18682600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:18681800-18683200	Active TSS	Colonic Mucosa	Colon
11	chr19:18681800-18683200	Active TSS	Stomach Smooth Muscle	stomach
12	chr19:18681800-18683400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr19:18681800-18683400	Active TSS	Fetal Intestine Large	intestine
14	chr19:18681800-18683600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr19:18681800-18683600	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr19:18681800-18683600	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr19:18681800-18683600	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr19:18682000-18682400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr19:18682000-18682400	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr19:18682000-18682400	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chr19:18682000-18682400	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr19:18682000-18682400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr19:18682000-18682400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr19:18682000-18682400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr19:18682000-18682400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr19:18682000-18682400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:18682000-18682400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr19:18682000-18682400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr19:18682000-18682400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:18682000-18682400	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr19:18682000-18682400	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr19:18682000-18682400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr19:18682000-18682400	Flanking Active TSS	Fetal Intestine Small	intestine
34	chr19:18682000-18682400	Flanking Active TSS	Fetal Muscle Trunk	muscle
35	chr19:18682000-18682400	Flanking Active TSS	Fetal Muscle Leg	muscle
36	chr19:18682000-18682400	Flanking Active TSS	Fetal Thymus	thymus
37	chr19:18682000-18682400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr19:18682000-18682400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr19:18682000-18682400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr19:18682000-18682400	Flanking Active TSS	Dnd41	blood
41	chr19:18682000-18682400	Flanking Active TSS	Hela-S3	cervix
42	chr19:18682000-18682400	Flanking Active TSS	HepG2	liver
43	chr19:18682000-18682400	Flanking Active TSS	HMEC	breast
44	chr19:18682000-18682400	Flanking Active TSS	HUVEC	blood vessel
45	chr19:18682000-18682400	Flanking Active TSS	NH-A	brain
46	chr19:18682000-18682400	Flanking Active TSS	NHEK	skin
47	chr19:18682000-18682400	Flanking Active TSS	Osteobl	bone
48	chr19:18682000-18682800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr19:18682000-18682800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr19:18682000-18682800	Active TSS	Skeletal Muscle Female	skeletal muscle

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