Variant report

Variant	rs8107264
Chromosome Location	chr19:18485258-18485259
allele	A/G/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	SIN3AK20	chr19:18485165-18485462	HepG2	liver:	n/a	n/a
2	YY1	chr19:18484488-18485679	K562	blood:	n/a	chr19:18485465-18485476 chr19:18485464-18485473 chr19:18485467-18485476
3	ARID3A	chr19:18484458-18485558	K562	blood:	n/a	n/a
4	USF2	chr19:18485010-18485682	Hela-S3	cervix:	n/a	n/a
5	FOXM1	chr19:18484914-18485619	ECC-1	luminal epithelium:	n/a	n/a
6	TCF12	chr19:18485108-18485651	GM12878	blood:	n/a	n/a
7	CREB1	chr19:18484451-18485823	HepG2	liver:	n/a	n/a
8	POLR2A	chr19:18484942-18485449	GM12878	blood:	n/a	n/a
9	USF2	chr19:18485083-18485685	GM12878	blood:	n/a	n/a
10	TCF12	chr19:18484761-18485702	A549	lung:	n/a	chr19:18485000-18485007
11	POLR2A	chr19:18484705-18485680	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr19:18484474-18485542	HUVEC	blood vessel:	n/a	n/a
13	ZNF384	chr19:18484681-18486488	K562	blood:	n/a	n/a
14	MYC	chr19:18485110-18485563	MCF-7	breast:	n/a	chr19:18485462-18485472 chr19:18485298-18485308 chr19:18485302-18485311 chr19:18485301-18485308 chr19:18485300-18485309
15	SPI1	chr19:18485175-18485532	K562	blood:	n/a	chr19:18485481-18485494
16	MYC	chr19:18484614-18485684	K562	blood:	n/a	chr19:18485462-18485472 chr19:18485298-18485308 chr19:18485302-18485311 chr19:18485301-18485308 chr19:18485300-18485309
17	SIN3AK20	chr19:18485118-18485594	SK-N-SH	brain:	n/a	n/a
18	MAX	chr19:18484340-18485882	HCT-116	colon:	n/a	chr19:18485462-18485472 chr19:18485298-18485308 chr19:18485302-18485311 chr19:18485301-18485308 chr19:18485300-18485309
19	FOSL2	chr19:18485046-18485742	HepG2	liver:	n/a	chr19:18485412-18485422 chr19:18485467-18485476 chr19:18485412-18485422 chr19:18485414-18485425 chr19:18485413-18485421 chr19:18485411-18485423
20	TEAD4	chr19:18484849-18485672	ECC-1	luminal epithelium:	n/a	n/a
21	MYC	chr19:18485140-18485399	GM12878	blood:	n/a	chr19:18485298-18485308 chr19:18485302-18485311 chr19:18485301-18485308 chr19:18485300-18485309
22	PRDM1	chr19:18485110-18485543	Hela-S3	cervix:	n/a	n/a
23	TEAD4	chr19:18484816-18485515	HepG2	liver:	n/a	n/a
24	CHD2	chr19:18485123-18485500	H1-hESC	embryonic stem cell:	n/a	n/a
25	PAX5	chr19:18485204-18485537	GM12891	blood:	n/a	n/a
26	JUN	chr19:18484438-18485758	K562	blood:	n/a	chr19:18485412-18485422 chr19:18485467-18485476 chr19:18485412-18485422 chr19:18485414-18485425 chr19:18485413-18485421 chr19:18485411-18485423
27	USF1	chr19:18485010-18485600	A549	lung:	n/a	n/a
28	TCF12	chr19:18485149-18485528	H1-hESC	embryonic stem cell:	n/a	n/a
29	E2F6	chr19:18484674-18485670	K562	blood:	n/a	chr19:18485464-18485473
30	TAF1	chr19:18484972-18485442	GM12878	blood:	n/a	n/a
31	POLR2A	chr19:18484496-18485463	GM12892	blood:	n/a	n/a
32	TBP	chr19:18484711-18485683	HepG2	liver:	n/a	n/a
33	MYC	chr19:18485108-18485541	MCF10A-Er-Src	breast:	n/a	chr19:18485462-18485472 chr19:18485298-18485308 chr19:18485302-18485311 chr19:18485301-18485308 chr19:18485300-18485309
34	POLR2A	chr19:18485117-18485275	MCF10A-Er-Src	breast:	n/a	n/a
35	CHD2	chr19:18484664-18485685	GM12878	blood:	n/a	n/a
36	EP300	chr19:18484465-18485753	ECC-1	luminal epithelium:	n/a	chr19:18484485-18484494
37	EBF1	chr19:18485107-18485566	GM12878	blood:	n/a	n/a
38	TBP	chr19:18485140-18485426	H1-hESC	embryonic stem cell:	n/a	n/a
39	MYC	chr19:18485153-18485419	Hela-S3	cervix:	n/a	chr19:18485298-18485308 chr19:18485302-18485311 chr19:18485301-18485308 chr19:18485300-18485309
40	MYC	chr19:18484403-18485527	K562	blood:	n/a	chr19:18485462-18485472 chr19:18485298-18485308 chr19:18485302-18485311 chr19:18485301-18485308 chr19:18485300-18485309
41	JUND	chr19:18485199-18485551	HepG2	liver:	n/a	chr19:18485412-18485422 chr19:18485467-18485476 chr19:18485412-18485422 chr19:18485414-18485425 chr19:18485413-18485421 chr19:18485411-18485422 chr19:18485411-18485423
42	REST	chr19:18485010-18485447	SK-N-SH	brain:	n/a	chr19:18485030-18485043 chr19:18485035-18485045
43	FOXP2	chr19:18485076-18485585	PFSK-1	brain:	n/a	n/a
44	RELA	chr19:18485039-18485692	GM15510	blood:	n/a	n/a
45	KAP1	chr19:18484445-18485373	HEK293	kidney:	n/a	n/a
46	PAX5	chr19:18485198-18485572	GM12892	blood:	n/a	n/a
47	RELA	chr19:18484931-18485670	GM19099	blood:	n/a	n/a
48	SP1	chr19:18485090-18485603	H1-hESC	embryonic stem cell:	n/a	chr19:18485463-18485475 chr19:18485458-18485468 chr19:18485465-18485474 chr19:18485481-18485495 chr19:18485463-18485475 chr19:18485276-18485297 chr19:18485457-18485469 chr19:18485385-18485396 chr19:18485464-18485474 chr19:18485458-18485467 chr19:18485460-18485474 chr19:18485464-18485473 chr19:18485471-18485485
49	IKZF1	chr19:18484444-18485427	GM12878	blood:	n/a	chr19:18484565-18484573
50	RFX5	chr19:18485227-18485376	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:18388423..18395098-chr19:18483334..18487110,13	K562	blood:
2	chr19:18483533..18485446-chr19:18527365..18529374,2	K562	blood:
3	chr19:18484864..18486946-chr19:18543605..18545790,2	K562	blood:
4	chr19:18402879..18404490-chr19:18483382..18485469,2	K562	blood:
5	chr19:18449115..18453939-chr19:18483257..18487784,7	K562	blood:
6	chr19:18388472..18395098-chr19:18481027..18487774,21	K562	blood:

Variant related genes	Relation type
GDF15	TF binding region
ENSG00000130511	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000130522	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1059519	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12459566	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12459782	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2059039	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3787023	0.82[ASN][1000 genomes]
rs3848646	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3848647	0.86[EUR][1000 genomes]
rs3848648	0.84[EUR][1000 genomes]
rs3848649	0.88[EUR][1000 genomes]
rs4328570	0.86[EUR][1000 genomes]
rs4808128	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4808789	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4808792	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4808793	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4808794	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55947999	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56033872	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6512262	0.88[EUR][1000 genomes]
rs6512263	0.88[EUR][1000 genomes]
rs6512264	0.88[EUR][1000 genomes]
rs6512265	0.88[EUR][1000 genomes]
rs6512266	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7251610	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8101804	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers 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	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18482400-18488800	Enhancers	Fetal Intestine Large	intestine
2	chr19:18482800-18488600	Enhancers	Fetal Intestine Small	intestine
3	chr19:18483000-18486000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr19:18483000-18486400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:18483200-18486000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr19:18483200-18486000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:18483200-18486800	Enhancers	Placenta	Placenta
8	chr19:18483400-18485400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:18483400-18485400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:18483400-18485600	Enhancers	Lung	lung
11	chr19:18483400-18485800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr19:18483400-18485800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr19:18483400-18485800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:18483400-18485800	Enhancers	Adipose Nuclei	Adipose
15	chr19:18483400-18486000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr19:18483400-18486000	Enhancers	Fetal Muscle Trunk	muscle
17	chr19:18483400-18486000	Enhancers	Fetal Muscle Leg	muscle
18	chr19:18483400-18486000	Enhancers	HUVEC	blood vessel
19	chr19:18483400-18486400	Enhancers	Primary hematopoietic stem cells	blood
20	chr19:18483400-18486400	Enhancers	A549	lung
21	chr19:18483400-18486600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr19:18483400-18486600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr19:18483400-18487400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr19:18483600-18485800	Enhancers	HMEC	breast
25	chr19:18483600-18486800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr19:18483600-18491000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr19:18483800-18485400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr19:18484200-18485800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr19:18484200-18486200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:18484200-18486800	Enhancers	Primary B cells from cord blood	blood
31	chr19:18484400-18485400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr19:18484400-18485400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr19:18484400-18485400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr19:18484400-18485400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr19:18484400-18485400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:18484400-18485400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:18484400-18485400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr19:18484400-18485400	Enhancers	Brain Hippocampus Middle	brain
39	chr19:18484400-18485400	Enhancers	Esophagus	oesophagus
40	chr19:18484400-18485400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr19:18484400-18485400	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr19:18484400-18485800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr19:18484400-18485800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr19:18484400-18485800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr19:18484400-18485800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr19:18484400-18485800	Enhancers	Brain Angular Gyrus	brain
47	chr19:18484400-18485800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr19:18484400-18485800	Enhancers	Fetal Stomach	stomach
49	chr19:18484400-18485800	Flanking Active TSS	GM12878-XiMat	blood
50	chr19:18484400-18485800	Enhancers	NH-A	brain

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