Variant report

Variant	rs3761033
Chromosome Location	chr19:18699157-18699158
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:66)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:66 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:18698432-18704772	HepG2	liver:	n/a	n/a
2	MAX	chr19:18698458-18701025	HepG2	liver:	n/a	chr19:18699922-18699932 chr19:18699937-18699946
3	CTCF	chr19:18699020-18699170	GM12864	blood:	n/a	n/a
4	ELF1	chr19:18698919-18700973	GM12878	blood:	n/a	n/a
5	MAX	chr19:18698953-18700664	NB4	blood:	n/a	chr19:18699922-18699932 chr19:18699937-18699946
6	FOXM1	chr19:18699069-18700111	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:18698422-18702101	K562	blood:	n/a	n/a
8	KAP1	chr19:18699051-18700904	HEK293	kidney:	n/a	n/a
9	MYBL2	chr19:18698432-18699176	HepG2	liver:	n/a	n/a
10	MAFK	chr19:18699141-18699741	K562	blood:	n/a	n/a
11	HEY1	chr19:18698550-18701536	K562	blood:	n/a	n/a
12	PML	chr19:18699075-18700578	GM12878	blood:	n/a	n/a
13	MTA3	chr19:18698687-18700702	GM12878	blood:	n/a	n/a
14	MAX	chr19:18699096-18700857	ECC-1	luminal epithelium:	n/a	chr19:18699922-18699932 chr19:18699937-18699946
15	SIN3A	chr19:18699074-18701780	H1-hESC	embryonic stem cell:	n/a	chr19:18700531-18700544 chr19:18701750-18701763
16	CEBPB	chr19:18699128-18699777	GM12878	blood:	n/a	n/a
17	ZMIZ1	chr19:18699077-18699721	K562	blood:	n/a	n/a
18	E2F6	chr19:18699121-18701088	H1-hESC	embryonic stem cell:	n/a	chr19:18699894-18699903 chr19:18699923-18699932
19	POLR2A	chr19:18699063-18700706	PFSK-1	brain:	n/a	n/a
20	ZBTB7A	chr19:18699062-18699257	K562	blood:	n/a	n/a
21	CTCF	chr19:18699040-18699190	BE2_C	brain:	n/a	n/a
22	MXI1	chr19:18698502-18701092	IMR90	lung:	n/a	n/a
23	POLR2A	chr19:18698544-18701391	K562	blood:	n/a	n/a
24	STAT5A	chr19:18699132-18700870	GM12878	blood:	n/a	chr19:18700602-18700614
25	POLR2A	chr19:18699113-18700560	ECC-1	luminal epithelium:	n/a	n/a
26	POU2F2	chr19:18699009-18700245	GM12891	blood:	n/a	chr19:18699923-18699935
27	JUN	chr19:18698407-18701916	K562	blood:	n/a	n/a
28	POLR2A	chr19:18699079-18700650	GM12892	blood:	n/a	n/a
29	YY1	chr19:18699043-18699713	K562	blood:	n/a	n/a
30	ARID3A	chr19:18699142-18699754	K562	blood:	n/a	n/a
31	POLR2A	chr19:18699015-18700606	K562	blood:	n/a	n/a
32	E2F6	chr19:18699044-18699241	K562	blood:	n/a	n/a
33	POLR2A	chr19:18698909-18700622	GM12878	blood:	n/a	n/a
34	POLR2A	chr19:18699019-18702091	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAZ	chr19:18698823-18700624	IMR90	lung:	n/a	chr19:18699922-18699932 chr19:18699937-18699946
36	MXI1	chr19:18698841-18702167	SK-N-SH	brain:	n/a	chr19:18701968-18701977
37	E2F6	chr19:18699136-18700978	K562	blood:	n/a	chr19:18699894-18699903 chr19:18699923-18699932
38	CTCF	chr19:18699120-18699270	GM06990	blood:	n/a	n/a
39	MAX	chr19:18698419-18701837	K562	blood:	n/a	chr19:18699922-18699932 chr19:18699937-18699946
40	EP300	chr19:18699126-18700758	ECC-1	luminal epithelium:	n/a	n/a
41	CTCF	chr19:18699101-18702067	SK-N-SH	brain:	n/a	chr19:18701852-18701861 chr19:18699925-18699938 chr19:18699546-18699562 chr19:18699545-18699563 chr19:18700656-18700674
42	HEY1	chr19:18698348-18701101	HepG2	liver:	n/a	n/a
43	ZNF384	chr19:18698864-18699216	GM12878	blood:	n/a	n/a
44	REST	chr19:18699077-18701653	H1-neurons	neurons:	n/a	chr19:18699587-18699600 chr19:18700524-18700544 chr19:18700642-18700662
45	POLR2A	chr19:18698474-18700853	HepG2	liver:	n/a	n/a
46	POLR2A	chr19:18699014-18700685	GM12892	blood:	n/a	n/a
47	SMC3	chr19:18698672-18702161	SK-N-SH	brain:	n/a	chr19:18701541-18701549 chr19:18701855-18701862 chr19:18700658-18700672
48	POLR2A	chr19:18698469-18700592	K562	blood:	n/a	n/a
49	POLR2A	chr19:18698417-18702064	K562	blood:	n/a	n/a
50	MAX	chr19:18699153-18701893	A549	lung:	n/a	chr19:18699922-18699932 chr19:18699937-18699946 chr19:18701849-18701860

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18699118-18699168	NHBE	bronchial:	n/a
2	chr19:18699118-18699168	SK-N-SH	brain:	n/a
3	chr19:18699118-18699168	AG10803	skin:	n/a
4	chr19:18699118-18699168	HCT-116	colon:	n/a
5	chr19:18699118-18699168	NH-A	brain:	n/a
6	chr19:18699118-18699168	Hepatocyte	liver:	n/a
7	chr19:18699118-18699168	AG04449	skin:	fetal
8	chr19:18699118-18699168	HRCEpiC	kidney:	n/a
9	chr19:18699118-18699168	ECC-1	luminal epithelium:	n/a
10	chr19:18699118-18699168	SK-N-MC	brain:	n/a
11	chr19:18699118-18699168	U87	brain:	n/a
12	chr19:18699118-18699168	HPAEpiC	pulmonary alveolar:	n/a
13	chr19:18699118-18699168	HepG2	liver:	n/a
14	chr19:18699118-18699168	HRPEpiC	eye:	n/a
15	chr19:18699118-18699168	PrEC	prostate:	n/a
16	chr19:18699118-18699168	GM12878	blood:	n/a
17	chr19:18699118-18699168	HMEC	breast:	n/a
18	chr19:18699118-18699168	GM19239	blood:	n/a
19	chr19:18699118-18699168	T-47D	breast:	n/a
20	chr19:18699118-18699168	AG04450	lung:	fetal
21	chr19:18699118-18699168	HCPEpiC	choroid plexus:	n/a
22	chr19:18699118-18699168	GM12891	blood:	n/a
23	chr19:18699118-18699168	GM06990	blood:	n/a
24	chr19:18699118-18699168	HL-60	blood:	n/a
25	chr19:18699118-18699168	LNCaP	prostate:	n/a
26	chr19:18699118-18699168	K562	blood:	n/a
27	chr19:18699118-18699168	RPTEC	kidney:	n/a
28	chr19:18699118-18699168	MCF-7	breast:	n/a
29	chr19:18699118-18699168	HUVEC	blood vessel:	n/a
30	chr19:18699118-18699168	HIPEpiC	eye:	n/a
31	chr19:18699118-18699168	AoSMC	blood vessel:	n/a
32	chr19:18699118-18699168	HNPCEpiC	eye:	n/a
33	chr19:18699118-18699168	GM12892	blood:	n/a
34	chr19:18699118-18699168	HRE	kidney:	n/a
35	chr19:18699118-18699168	A549	lung:	n/a
36	chr19:18699118-18699168	HCM	heart:	n/a
37	chr19:18699118-18699168	H1-hESC	embryonic stem cell:	embryo
38	chr19:18699118-18699168	AG09319	gingival:	n/a
39	chr19:18699118-18699168	Hela-S3	cervix:	n/a
40	chr19:18699118-18699168	AG09309	skin:	n/a
41	chr19:18699118-18699168	MCF10A-Er-Src	breast:	n/a
42	chr19:18699118-18699168	BE2_C	brain:	n/a
43	chr19:18699118-18699168	NHDF-neo	bronchial:	n/a
44	chr19:18699118-18699168	NB4	blood:	n/a
45	chr19:18699118-18699168	NT2-D1	testis:	n/a
46	chr19:18699118-18699168	Caco-2	colon:	n/a
47	chr19:18699118-18699168	CMK	blood:	n/a
48	chr19:18699118-18699168	ovcar-3	ovarian:	n/a
49	chr19:18699118-18699168	IMR90	lung:	fetal
50	chr19:18699118-18699168	SKMC	muscle:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18698544..18700812-chr19:18957924..18960532,2	MCF-7	breast:
2	chr19:18698512..18700358-chr19:18745222..18750244,4	K562	blood:
3	chr19:18669154..18672917-chr19:18697910..18700793,4	K562	blood:
4	chr19:18681312..18685117-chr19:18698049..18701447,5	MCF-7	breast:
5	chr19:18678376..18688390-chr19:18697032..18707656,34	K562	blood:
6	chr19:18495663..18499199-chr19:18698556..18701601,3	K562	blood:
7	chr19:18672789..18675551-chr19:18697478..18700004,2	MCF-7	breast:
8	chr19:18631688..18633803-chr19:18698894..18701519,3	MCF-7	breast:
9	chr19:18631032..18633728-chr19:18697675..18701681,7	MCF-7	breast:
10	chr19:18630919..18637145-chr19:18698949..18704438,10	K562	blood:
11	chr19:18698708..18701515-chr19:18746316..18749182,4	MCF-7	breast:
12	chr19:18560428..18562290-chr19:18697928..18699471,2	K562	blood:

No data

Variant related genes	Relation type
C19orf60	TF binding region
C19orf60	CpG island
ENSG00000130513	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000167487	Chromatin interaction
ENSG00000105700	Chromatin interaction
ENSG00000221983	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000005007	Chromatin interaction
ENSG00000268030	Chromatin interaction
ENSG00000268983	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12462890	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2002632	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2314662	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4808822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7252535	0.89[ASN][1000 genomes]
rs886243	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18686800-18699600	Weak transcription	Small Intestine	intestine
2	chr19:18687200-18699400	Weak transcription	Ovary	ovary
3	chr19:18688800-18699200	Weak transcription	Esophagus	oesophagus
4	chr19:18697800-18699200	Enhancers	Placenta	Placenta
5	chr19:18698400-18699200	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr19:18698400-18699400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:18698400-18699400	Flanking Active TSS	Dnd41	blood
8	chr19:18698600-18699200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:18698600-18699200	Enhancers	Primary hematopoietic stem cells	blood
10	chr19:18698600-18699200	Flanking Active TSS	HSMM	muscle
11	chr19:18698600-18699200	Flanking Active TSS	K562	blood
12	chr19:18698600-18699400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:18698600-18699400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr19:18698600-18699400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr19:18698600-18699400	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr19:18698600-18699400	Flanking Active TSS	GM12878-XiMat	blood
17	chr19:18698600-18699600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr19:18698600-18699600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr19:18698600-18699600	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr19:18698600-18700800	Flanking Active TSS	Colonic Mucosa	Colon
21	chr19:18698600-18701200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr19:18698600-18701200	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr19:18698600-18701200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr19:18698800-18699200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr19:18698800-18699200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr19:18698800-18699200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr19:18698800-18699200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
28	chr19:18698800-18699200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:18698800-18699200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr19:18698800-18699200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr19:18698800-18699200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:18698800-18699200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr19:18698800-18699200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr19:18698800-18699200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr19:18698800-18699200	Enhancers	Fetal Muscle Leg	muscle
36	chr19:18698800-18699200	Enhancers	Left Ventricle	heart
37	chr19:18698800-18699200	Enhancers	Psoas Muscle	Psoas
38	chr19:18698800-18699400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr19:18698800-18699400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr19:18698800-18699400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr19:18698800-18699400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr19:18698800-18699400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr19:18698800-18699400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr19:18698800-18699400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr19:18698800-18699400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr19:18698800-18699400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr19:18698800-18699400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr19:18698800-18699400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr19:18698800-18699400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr19:18698800-18699400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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