Variant report

Variant	rs6512255
Chromosome Location	chr19:18393682-18393683
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:185)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:185 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr19:18388695-18394026	HepG2	liver:	n/a	chr19:18390515-18390530 chr19:18392424-18392439 chr19:18393317-18393332
2	HEY1	chr19:18392823-18393915	K562	blood:	n/a	chr19:18393317-18393332
3	MAX	chr19:18393519-18393877	K562	blood:	n/a	n/a
4	PML	chr19:18391789-18393929	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:18388084-18394020	GM12891	blood:	n/a	n/a
6	POLR2A	chr19:18391839-18393913	K562	blood:	n/a	n/a
7	POLR2A	chr19:18392799-18393996	GM12891	blood:	n/a	n/a
8	POLR2A	chr19:18388625-18393808	Hela-S3	cervix:	n/a	n/a
9	MYC	chr19:18393563-18393903	K562	blood:	n/a	n/a
10	EP300	chr19:18393577-18394021	HepG2	liver:	n/a	n/a
11	POLR2A	chr19:18391737-18394004	HCT-116	colon:	n/a	n/a
12	CBX3	chr19:18391836-18394026	K562	blood:	n/a	n/a
13	MBD4	chr19:18393249-18393783	HepG2	liver:	n/a	n/a
14	EP300	chr19:18393430-18393944	A549	lung:	n/a	n/a
15	MYC	chr19:18393669-18393830	K562	blood:	n/a	n/a
16	POLR2A	chr19:18390259-18393775	GM18526	blood:	n/a	n/a
17	POLR2A	chr19:18391754-18394016	GM12892	blood:	n/a	n/a
18	POLR2A	chr19:18385002-18394564	K562	blood:	n/a	n/a
19	MYC	chr19:18393588-18393882	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr19:18388996-18393928	HCT-116	colon:	n/a	n/a
21	POLR2A	chr19:18391695-18393937	U87	brain:	n/a	n/a
22	MYC	chr19:18393510-18393947	K562	blood:	n/a	n/a
23	RCOR1	chr19:18393534-18393939	K562	blood:	n/a	n/a
24	YY1	chr19:18393670-18393892	K562	blood:	n/a	n/a
25	RAD21	chr19:18389217-18393748	SK-N-SH	brain:	n/a	chr19:18392832-18392845
26	POLR2A	chr19:18390838-18393817	A549	lung:	n/a	n/a
27	BHLHE40	chr19:18393624-18393867	HepG2	liver:	n/a	n/a
28	GTF2F1	chr19:18393584-18393863	K562	blood:	n/a	n/a
29	POLR2A	chr19:18382160-18394577	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr19:18391125-18393932	K562	blood:	n/a	n/a
31	MYC	chr19:18393604-18393820	MCF10A-Er-Src	breast:	n/a	n/a
32	SREBP1	chr19:18391848-18394071	GM12878	blood:	n/a	chr19:18392572-18392586 chr19:18392573-18392587
33	TCF12	chr19:18391794-18394072	A549	lung:	n/a	n/a
34	POLR2A	chr19:18388726-18394103	HL-60	blood:	n/a	n/a
35	POLR2A	chr19:18388733-18393961	HL-60	blood:	n/a	n/a
36	GTF2F1	chr19:18393471-18393721	Hela-S3	cervix:	n/a	n/a
37	EP300	chr19:18391954-18393935	K562	blood:	n/a	chr19:18392699-18392708
38	POLR2A	chr19:18393454-18393703	A549	lung:	n/a	n/a
39	POLR2A	chr19:18390219-18393748	GM18951	blood:	n/a	n/a
40	POLR2A	chr19:18392816-18393818	GM12891	blood:	n/a	n/a
41	POLR2A	chr19:18382204-18393752	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr19:18384125-18394577	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr19:18390187-18393807	GM12892	blood:	n/a	n/a
44	POLR2A	chr19:18392683-18393872	GM12892	blood:	n/a	n/a
45	POLR2A	chr19:18388801-18393779	HepG2	liver:	n/a	n/a
46	CREB1	chr19:18390123-18394065	HepG2	liver:	n/a	n/a
47	POLR2A	chr19:18392802-18393949	GM12878	blood:	n/a	n/a
48	MAX	chr19:18391784-18394058	HepG2	liver:	n/a	chr19:18392864-18392873
49	TBP	chr19:18392097-18393782	HepG2	liver:	n/a	chr19:18392450-18392461
50	PML	chr19:18391810-18393831	K562	blood:	n/a	n/a

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18311216..18316508-chr19:18389022..18394678,9	MCF-7	breast:
2	chr19:18385043..18394940-chr19:18518893..18533267,53	K562	blood:
3	chr19:18388809..18393836-chr19:18524501..18532718,14	MCF-7	breast:
4	chr19:18388423..18395098-chr19:18483334..18487110,13	K562	blood:
5	chr19:18388472..18395098-chr19:18481027..18487774,21	K562	blood:
6	chr19:18391038..18394210-chr19:18525828..18530797,8	MCF-7	breast:
7	chr19:18313659..18316582-chr19:18386529..18393683,9	K562	blood:
8	chr19:18260692..18269532-chr19:18383927..18395911,19	K562	blood:
9	chr19:18387676..18394124-chr19:18495437..18503905,30	K562	blood:
10	chr16:89988316..89991221-chr19:18390772..18393694,2	MCF-7	breast:
11	chr19:18384108..18395354-chr19:18534355..18544725,18	K562	blood:
12	chr19:18382564..18395263-chr19:18409643..18446343,165	MCF-7	breast:
13	chr19:18392874..18395450-chr19:18668198..18669959,2	K562	blood:
14	chr19:18334725..18337698-chr19:18389039..18394023,6	K562	blood:
15	chr19:18302314..18304675-chr19:18392994..18395243,2	MCF-7	breast:
16	chr19:18390025..18394312-chr19:18496571..18499733,6	MCF-7	breast:
17	chr19:18332417..18336925-chr19:18388887..18394072,11	K562	blood:
18	chr19:18392266..18394628-chr19:18631659..18634590,3	K562	blood:
19	chr19:18387676..18394344-chr19:18495021..18501696,25	K562	blood:
20	chr19:18391626..18394860-chr19:18506004..18508591,3	K562	blood:
21	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
22	chr19:18301148..18305001-chr19:18389528..18394862,10	MCF-7	breast:
23	chr19:18283376..18285047-chr19:18391434..18393918,2	K562	blood:
24	chr19:18390145..18394362-chr19:18451018..18457221,11	MCF-7	breast:

No data

Variant related genes	Relation type
JUND	TF binding region
ENSG00000239821	Chromatin interaction
ENSG00000175489	Chromatin interaction
ENSG00000259006	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000268650	Chromatin interaction
ENSG00000268173	Chromatin interaction
ENSG00000258947	Chromatin interaction
ENSG00000105700	Chromatin interaction
ENSG00000269145	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000254858	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000130520	Chromatin interaction
ENSG00000216490	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000105650	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10419232	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16982288	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16982291	0.92[ASN][1000 genomes]
rs16982301	0.92[ASN][1000 genomes]
rs41374444	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41401751	0.92[ASN][1000 genomes]
rs41446250	0.81[EUR][1000 genomes]
rs56069717	0.82[EUR][1000 genomes]
rs56123634	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60235938	0.82[EUR][1000 genomes]
rs7254275	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
3	nsv911251	chr19:18224729-18422364	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer 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	136 gene(s)	inside rSNPs	diseases
4	nsv911253	chr19:18240127-18418044	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv911268	chr19:18351674-18395537	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
8	nsv911269	chr19:18351674-18418044	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
9	nsv911270	chr19:18351674-18422364	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
10	nsv911271	chr19:18362940-18453124	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
11	nsv828472	chr19:18377725-18404131	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	117 gene(s)	inside rSNPs	diseases
12	esv1833305	chr19:18378219-18408222	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	117 gene(s)	inside rSNPs	diseases
13	nsv911272	chr19:18378219-18439383	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
14	esv1793726	chr19:18381600-18400786	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	104 gene(s)	inside rSNPs	diseases
15	nsv911273	chr19:18386798-18454825	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	134 gene(s)	inside rSNPs	diseases
16	esv1801478	chr19:18391070-18395537	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	93 gene(s)	inside rSNPs	diseases
17	esv3439376	chr19:18391377-18393925	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	93 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18389800-18393800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr19:18390000-18393800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr19:18390000-18394000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr19:18390200-18393800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr19:18390200-18393800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr19:18390200-18393800	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr19:18392200-18393800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr19:18393000-18393800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:18393000-18393800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:18393000-18393800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:18393000-18393800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr19:18393000-18393800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr19:18393000-18393800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
14	chr19:18393000-18393800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr19:18393000-18393800	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr19:18393000-18393800	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr19:18393000-18393800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr19:18393000-18393800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr19:18393000-18393800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr19:18393000-18393800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr19:18393000-18393800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr19:18393000-18393800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr19:18393000-18393800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr19:18393000-18393800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:18393000-18393800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:18393000-18393800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr19:18393000-18393800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr19:18393000-18393800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr19:18393000-18393800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr19:18393000-18393800	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr19:18393000-18393800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr19:18393000-18393800	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr19:18393000-18393800	Flanking Active TSS	Colonic Mucosa	Colon
34	chr19:18393000-18393800	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr19:18393000-18393800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr19:18393000-18393800	Flanking Active TSS	Fetal Brain Male	brain
37	chr19:18393000-18393800	Flanking Active TSS	Fetal Muscle Trunk	muscle
38	chr19:18393000-18393800	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr19:18393000-18393800	Flanking Active TSS	Fetal Stomach	stomach
40	chr19:18393000-18393800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr19:18393000-18393800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr19:18393000-18393800	Flanking Active TSS	Dnd41	blood
43	chr19:18393000-18393800	Flanking Active TSS	Hela-S3	cervix
44	chr19:18393000-18393800	Flanking Active TSS	HMEC	breast
45	chr19:18393000-18393800	Flanking Active TSS	HSMM	muscle
46	chr19:18393000-18393800	Flanking Active TSS	HSMMtube	muscle
47	chr19:18393000-18393800	Flanking Active TSS	HUVEC	blood vessel
48	chr19:18393000-18393800	Flanking Active TSS	K562	blood
49	chr19:18393000-18393800	Flanking Active TSS	NHDF-Ad	bronchial
50	chr19:18393000-18393800	Flanking Active TSS	NHEK	skin

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