Variant report

Variant	rs8110747
Chromosome Location	chr19:36103517-36103518
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	TAF1	chr19:36103392-36103843	HepG2	liver:	n/a	n/a
2	FOXP2	chr19:36103403-36103803	PFSK-1	brain:	n/a	n/a
3	JUND	chr19:36103462-36103757	HepG2	liver:	n/a	chr19:36103463-36103472 chr19:36103629-36103638 chr19:36103606-36103615
4	ZNF143	chr19:36103437-36103779	Hela-S3	cervix:	n/a	n/a
5	EP300	chr19:36103471-36103737	HepG2	liver:	n/a	chr19:36103494-36103508
6	MXI1	chr19:36103470-36104037	K562	blood:	n/a	chr19:36103588-36103603
7	MYBL2	chr19:36103265-36104065	HepG2	liver:	n/a	n/a
8	YY1	chr19:36103459-36103779	A549	lung:	n/a	n/a
9	MAZ	chr19:36103423-36103763	HepG2	liver:	n/a	n/a
10	POLR2A	chr19:36103297-36104159	GM12892	blood:	n/a	n/a
11	TCF12	chr19:36103375-36104001	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr19:36103467-36103922	GM12878	blood:	n/a	n/a
13	CTCF	chr19:36103474-36103803	IMR90	lung:	n/a	n/a
14	SIN3AK20	chr19:36103512-36103872	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr19:36103467-36104201	MCF-7	breast:	n/a	n/a
16	CEBPD	chr19:36103502-36103743	HepG2	liver:	n/a	n/a
17	POU2F2	chr19:36103505-36103880	GM12878	blood:	n/a	n/a
18	SRF	chr19:36103495-36103733	GM12878	blood:	n/a	n/a
19	YY1	chr19:36103502-36103816	GM12891	blood:	n/a	n/a
20	ATF3	chr19:36103408-36103843	H1-hESC	embryonic stem cell:	n/a	chr19:36103628-36103641 chr19:36103629-36103637 chr19:36103607-36103615 chr19:36103606-36103614 chr19:36103627-36103640 chr19:36103630-36103640 chr19:36103595-36103615 chr19:36103607-36103614 chr19:36103603-36103618 chr19:36103604-36103617 chr19:36103626-36103641 chr19:36103604-36103615 chr19:36103627-36103637 chr19:36103603-36103614 chr19:36103605-36103616 chr19:36103628-36103639 chr19:36103606-36103617 chr19:36103604-36103614 chr19:36103627-36103637 chr19:36103629-36103640 chr19:36103604-36103614 chr19:36103627-36103640 chr19:36103630-36103637 chr19:36103603-36103616 chr19:36103607-36103617 chr19:36103605-36103618 chr19:36103604-36103617 chr19:36103630-36103640
21	EP300	chr19:36103410-36103857	HepG2	liver:	n/a	chr19:36103494-36103508
22	POLR2A	chr19:36103348-36104080	GM19193	blood:	n/a	n/a
23	CREB1	chr19:36103259-36104136	GM12878	blood:	n/a	chr19:36103604-36103617 chr19:36103627-36103640
24	YY1	chr19:36103475-36103852	K562	blood:	n/a	n/a
25	SIN3AK20	chr19:36103496-36103754	SK-N-SH	brain:	n/a	n/a
26	JUND	chr19:36103376-36103824	HepG2	liver:	n/a	chr19:36103463-36103472 chr19:36103629-36103638 chr19:36103606-36103615
27	JUND	chr19:36103282-36104160	GM12878	blood:	n/a	chr19:36103463-36103472 chr19:36103629-36103638 chr19:36103606-36103615
28	CTCF	chr19:36103440-36103590	HBMEC	blood vessel:	n/a	n/a
29	YY1	chr19:36103386-36103920	GM12878	blood:	n/a	n/a
30	USF1	chr19:36103424-36103718	A549	lung:	n/a	n/a
31	RAD21	chr19:36103427-36103801	SK-N-SH_RA	brain:	n/a	n/a
32	YY1	chr19:36103437-36103876	H1-hESC	embryonic stem cell:	n/a	n/a
33	PAX5	chr19:36103366-36103804	GM12878	blood:	n/a	n/a
34	ZNF384	chr19:36103459-36103801	K562	blood:	n/a	n/a
35	CTCF	chr19:36103500-36103650	GM12867	blood:	n/a	n/a
36	ZNF143	chr19:36103456-36103778	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr19:36103432-36103855	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr19:36103386-36103996	Hela-S3	cervix:	n/a	n/a
39	SIN3AK20	chr19:36103428-36103920	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr19:36103465-36103896	HepG2	liver:	n/a	n/a
41	MAX	chr19:36103375-36103904	Hela-S3	cervix:	n/a	n/a
42	TBP	chr19:36103380-36103864	Hela-S3	cervix:	n/a	n/a
43	MAFK	chr19:36103443-36104099	K562	blood:	n/a	n/a
44	POLR2A	chr19:36103399-36104077	PBDE	blood:	n/a	n/a
45	POLR2A	chr19:36103388-36104322	K562	blood:	n/a	n/a
46	POLR2A	chr19:36103369-36104075	GM12892	blood:	n/a	n/a
47	JUND	chr19:36102698-36104161	SK-N-SH	brain:	n/a	chr19:36103463-36103472 chr19:36103629-36103638 chr19:36103606-36103615
48	TCF12	chr19:36103399-36103770	GM12878	blood:	n/a	n/a
49	SP1	chr19:36103332-36104193	A549	lung:	n/a	chr19:36103636-36103647 chr19:36104177-36104191 chr19:36103465-36103474 chr19:36103463-36103475 chr19:36103463-36103475
50	BCL3	chr19:36103170-36104032	A549	lung:	n/a	chr19:36103494-36103503

No.	Distal block	Cell Line	Cell type
1	chr19:36096255..36099728-chr19:36101797..36103529,5	K562	blood:
2	chr19:36047785..36049380-chr19:36101494..36103619,2	K562	blood:
3	chr19:36103494..36107429-chr19:36109770..36112878,4	MCF-7	breast:
4	chr19:36103075..36105092-chr19:36267150..36269666,2	K562	blood:
5	chr19:36102107..36105519-chr19:36117943..36120957,6	MCF-7	breast:
6	chr19:36000419..36002864-chr19:36103085..36105115,2	MCF-7	breast:

Variant related genes	Relation type
HAUS5	TF binding region
ENSG00000161249	Chromatin interaction
ENSG00000126254	Chromatin interaction
ENSG00000004777	Chromatin interaction
ENSG00000249115	Chromatin interaction
ENSG00000105675	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10401695	0.92[CEU][hapmap]
rs2239914	0.84[ASW][hapmap];0.82[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2285414	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2285415	0.84[ASW][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4547459	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4806180	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4806181	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4806183	0.91[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs756783	0.87[ASN][1000 genomes]
rs756784	0.81[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs916659	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8110747	AC002398.13	cis	Thyroid	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36101600-36103600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:36102800-36103600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:36102800-36103600	Enhancers	Gastric	stomach
4	chr19:36102800-36103800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:36102800-36103800	Enhancers	Fetal Brain Male	brain
6	chr19:36102800-36104800	Flanking Active TSS	Dnd41	blood
7	chr19:36102800-36105200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:36103000-36103600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:36103000-36103600	Enhancers	Primary hematopoietic stem cells	blood
10	chr19:36103000-36103800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:36103000-36103800	Enhancers	Fetal Heart	heart
12	chr19:36103000-36103800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr19:36103000-36103800	Active TSS	Rectal Smooth Muscle	rectum
14	chr19:36103000-36104000	Active TSS	Fetal Brain Female	brain
15	chr19:36103000-36104000	Active TSS	A549	lung
16	chr19:36103000-36104200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:36103000-36104200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr19:36103000-36104400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr19:36103000-36104400	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr19:36103000-36104600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr19:36103200-36103600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:36103200-36103600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr19:36103200-36103600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr19:36103200-36103600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr19:36103200-36103600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:36103200-36103600	Flanking Active TSS	Fetal Intestine Small	intestine
27	chr19:36103200-36103600	Flanking Active TSS	Fetal Muscle Trunk	muscle
28	chr19:36103200-36103800	Active TSS	HepG2	liver
29	chr19:36103200-36103800	Active TSS	NH-A	brain
30	chr19:36103200-36104000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr19:36103200-36104000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr19:36103200-36104000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr19:36103200-36104000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr19:36103200-36104000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr19:36103200-36104000	Active TSS	Brain Anterior Caudate	brain
36	chr19:36103200-36104000	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr19:36103200-36104000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr19:36103200-36104000	Active TSS	Colon Smooth Muscle	Colon
39	chr19:36103200-36104000	Active TSS	Ovary	ovary
40	chr19:36103200-36104000	Active TSS	Pancreas	Pancrea
41	chr19:36103200-36104000	Active TSS	Right Atrium	heart
42	chr19:36103200-36104000	Active TSS	HSMMtube	muscle
43	chr19:36103200-36104200	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr19:36103200-36104200	Active TSS	H1 Cell Line	embryonic stem cell
45	chr19:36103200-36104200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr19:36103200-36104200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr19:36103200-36104200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr19:36103200-36104200	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr19:36103200-36104200	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr19:36103200-36104200	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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