Variant report

Variant	rs1439619
Chromosome Location	chr15:93447631-93447632
allele	A/C
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	SRF	chr15:93447141-93447995	ECC-1	luminal epithelium:	n/a	n/a
2	PAX5	chr15:93447264-93447874	GM12891	blood:	n/a	n/a
3	RAD21	chr15:93447294-93448119	Hela-S3	cervix:	n/a	n/a
4	STAT1	chr15:93447278-93448644	Hela-S3	cervix:	n/a	chr15:93447849-93447860 chr15:93447634-93447646 chr15:93448484-93448504 chr15:93447845-93447865 chr15:93447850-93447859 chr15:93447848-93447862 chr15:93447851-93447859 chr15:93447845-93447865 chr15:93447851-93447860
5	GTF2F1	chr15:93447273-93448200	H1-hESC	embryonic stem cell:	n/a	n/a
6	FOSL1	chr15:93447277-93447883	K562	blood:	n/a	chr15:93447543-93447552 chr15:93447611-93447620 chr15:93447632-93447641
7	MAX	chr15:93447098-93448054	Hela-S3	cervix:	n/a	chr15:93447663-93447672 chr15:93447606-93447615
8	MAX	chr15:93447142-93448074	MCF-7	breast:	n/a	chr15:93447663-93447672 chr15:93447606-93447615
9	MXI1	chr15:93447030-93447921	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr15:93447024-93448076	GM15510	blood:	n/a	n/a
11	MAX	chr15:93447168-93447936	K562	blood:	n/a	chr15:93447663-93447672 chr15:93447606-93447615
12	FOS	chr15:93447183-93447916	MCF10A-Er-Src	breast:	n/a	chr15:93447543-93447552 chr15:93447611-93447620 chr15:93447632-93447641
13	TAF1	chr15:93447158-93448136	MCF-7	breast:	n/a	n/a
14	ZC3H11A	chr15:93446964-93448429	K562	blood:	n/a	n/a
15	IRF3	chr15:93447162-93447663	GM12878	blood:	n/a	chr15:93447265-93447279 chr15:93447545-93447554 chr15:93447632-93447646
16	POLR2A	chr15:93446772-93449243	PANC-1	pancreas:	n/a	n/a
17	SIN3AK20	chr15:93447316-93448012	PANC-1	pancreas:	n/a	n/a
18	EGR1	chr15:93447329-93448189	K562	blood:	n/a	chr15:93448006-93448019 chr15:93447597-93447610 chr15:93448007-93448016 chr15:93448006-93448019 chr15:93447632-93447642
19	GABPA	chr15:93446801-93448253	A549	lung:	n/a	chr15:93448005-93448014 chr15:93447633-93447642 chr15:93447665-93447674
20	POLR2A	chr15:93445798-93449703	U87	brain:	n/a	n/a
21	MYC	chr15:93447045-93448065	K562	blood:	n/a	chr15:93447663-93447672 chr15:93447606-93447615
22	NFYB	chr15:93446897-93447916	Hela-S3	cervix:	n/a	chr15:93447544-93447554 chr15:93447542-93447556 chr15:93447543-93447558
23	USF1	chr15:93447396-93447911	SK-N-SH	brain:	n/a	n/a
24	MAX	chr15:93446977-93448209	ECC-1	luminal epithelium:	n/a	chr15:93447663-93447672 chr15:93447606-93447615
25	GABPA	chr15:93447046-93448136	HL-60	blood:	n/a	chr15:93448005-93448014 chr15:93447633-93447642 chr15:93447665-93447674
26	MAX	chr15:93447164-93448039	ECC-1	luminal epithelium:	n/a	chr15:93447663-93447672 chr15:93447606-93447615
27	USF1	chr15:93447522-93447810	HepG2	liver:	n/a	n/a
28	YY1	chr15:93447030-93447825	HCT-116	colon:	n/a	chr15:93447584-93447598 chr15:93447423-93447431 chr15:93447633-93447642 chr15:93447212-93447222 chr15:93447412-93447434
29	CREB1	chr15:93447264-93447975	ECC-1	luminal epithelium:	n/a	chr15:93447609-93447622
30	ZBTB33	chr15:93447359-93447938	HCT-116	colon:	n/a	n/a
31	POLR2A	chr15:93447277-93447868	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr15:93442973-93453321	GM12878	blood:	n/a	n/a
33	POLR2A	chr15:93447229-93447930	A549	lung:	n/a	n/a
34	RAD21	chr15:93446903-93447701	HepG2	liver:	n/a	n/a
35	BATF	chr15:93447266-93447881	GM12878	blood:	n/a	n/a
36	YY1	chr15:93446888-93447983	ECC-1	luminal epithelium:	n/a	chr15:93447584-93447598 chr15:93447423-93447431 chr15:93447633-93447642 chr15:93447212-93447222 chr15:93447412-93447434
37	STAT3	chr15:93446601-93448836	Hela-S3	cervix:	n/a	chr15:93447634-93447646 chr15:93448484-93448504 chr15:93447845-93447865 chr15:93447850-93447859 chr15:93446695-93446702 chr15:93447848-93447862 chr15:93447851-93447859 chr15:93447845-93447865 chr15:93447851-93447860
38	NR2C2	chr15:93447304-93447852	Hela-S3	cervix:	n/a	chr15:93447508-93447523
39	STAT5A	chr15:93447188-93448120	GM12878	blood:	n/a	chr15:93447634-93447646 chr15:93447845-93447865 chr15:93447850-93447859 chr15:93447848-93447862 chr15:93447851-93447859 chr15:93447845-93447865 chr15:93447851-93447860
40	CTBP2	chr15:93447342-93447975	H1-hESC	embryonic stem cell:	n/a	n/a
41	YY1	chr15:93446856-93447905	H1-hESC	embryonic stem cell:	n/a	chr15:93447584-93447598 chr15:93447423-93447431 chr15:93447633-93447642 chr15:93447212-93447222 chr15:93447412-93447434
42	ATF2	chr15:93447190-93448228	GM12878	blood:	n/a	chr15:93447610-93447621 chr15:93447650-93447664
43	POLR2A	chr15:93433692-93455675	K562	blood:	n/a	n/a
44	GABPA	chr15:93447133-93448266	A549	lung:	n/a	chr15:93448005-93448014 chr15:93447633-93447642 chr15:93447665-93447674
45	HNF4G	chr15:93447250-93447735	HepG2	liver:	n/a	chr15:93447508-93447523
46	FOSL2	chr15:93447234-93448066	MCF-7	breast:	n/a	chr15:93447543-93447552 chr15:93447611-93447620 chr15:93447632-93447641
47	MAX	chr15:93447187-93448020	SK-N-SH	brain:	n/a	chr15:93447663-93447672 chr15:93447606-93447615
48	BRCA1	chr15:93447462-93447857	GM12878	blood:	n/a	n/a
49	MYC	chr15:93447429-93447804	MCF-7	breast:	n/a	chr15:93447663-93447672 chr15:93447606-93447615
50	FOXP2	chr15:93447340-93447907	PFSK-1	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:93447586-93447636	K562	blood:	n/a
2	chr15:93447586-93447636	HIPEpiC	eye:	n/a
3	chr15:93447586-93447636	GM19239	blood:	n/a
4	chr15:93447586-93447636	AoSMC	blood vessel:	n/a
5	chr15:93447586-93447636	HAEpiC	amniotic membrane:	n/a
6	chr15:93447586-93447636	MCF10A-Er-Src	breast:	n/a
7	chr15:93447586-93447636	HEEpiC	esophagus:	n/a
8	chr15:93447586-93447636	GM12891	blood:	n/a
9	chr15:93447586-93447636	SAEC	small airway:	n/a
10	chr15:93447586-93447636	HCT-116	colon:	n/a
11	chr15:93447586-93447636	GM06990	blood:	n/a
12	chr15:93447586-93447636	Hepatocyte	liver:	n/a
13	chr15:93447586-93447636	HCM	heart:	n/a
14	chr15:93447586-93447636	AG10803	skin:	n/a
15	chr15:93447586-93447636	SK-N-SH	brain:	n/a
16	chr15:93447586-93447636	GM12878	blood:	n/a
17	chr15:93447586-93447636	HRPEpiC	eye:	n/a
18	chr15:93447586-93447636	NB4	blood:	n/a
19	chr15:93447586-93447636	HRE	kidney:	n/a
20	chr15:93447586-93447636	ECC-1	luminal epithelium:	n/a
21	chr15:93447586-93447636	H1-hESC	embryonic stem cell:	embryo
22	chr15:93447586-93447636	ovcar-3	ovarian:	n/a
23	chr15:93447586-93447636	IMR90	lung:	fetal
24	chr15:93447586-93447636	BJ	skin:	n/a
25	chr15:93447586-93447636	NHDF-neo	bronchial:	n/a
26	chr15:93447586-93447636	HL-60	blood:	n/a
27	chr15:93447586-93447636	GM12892	blood:	n/a
28	chr15:93447586-93447636	AG04450	lung:	fetal
29	chr15:93447586-93447636	HNPCEpiC	eye:	n/a
30	chr15:93447586-93447636	T-47D	breast:	n/a
31	chr15:93447586-93447636	HMEC	breast:	n/a
32	chr15:93447586-93447636	HEK293	kidney:	embryo
33	chr15:93447586-93447636	AG04449	skin:	fetal
34	chr15:93447586-93447636	NHBE	bronchial:	n/a
35	chr15:93447586-93447636	HCF	heart:	n/a
36	chr15:93447586-93447636	PrEC	prostate:	n/a
37	chr15:93447586-93447636	U87	brain:	n/a
38	chr15:93447586-93447636	AG09319	gingival:	n/a
39	chr15:93447586-93447636	PANC-1	pancreas:	n/a
40	chr15:93447586-93447636	PFSK-1	brain:	n/a
41	chr15:93447586-93447636	HRCEpiC	kidney:	n/a
42	chr15:93447586-93447636	CMK	blood:	n/a
43	chr15:93447586-93447636	Hela-S3	cervix:	n/a
44	chr15:93447586-93447636	AG09309	skin:	n/a
45	chr15:93447586-93447636	HPAEpiC	pulmonary alveolar:	n/a
46	chr15:93447586-93447636	NT2-D1	testis:	n/a
47	chr15:93447586-93447636	SK-N-MC	brain:	n/a
48	chr15:93447586-93447636	NH-A	brain:	n/a
49	chr15:93447586-93447636	BE2_C	brain:	n/a
50	chr15:93447586-93447636	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:93447275..93448248-chr20:36155823..36156620,2	Hela-S3	cervix:
2	chr15:93447197..93448104-chr19:1241614..1242167,3	Hela-S3	cervix:
3	chr15:93447169..93447964-chr16:68269594..68270346,2	Hela-S3	cervix:
4	chr15:93447178..93449882-chr15:93481801..93484893,3	K562	blood:
5	chr15:93333327..93367027-chr15:93419774..93462750,363	K562	blood:
6	chr15:93447178..93448991-chr15:93481801..93483566,2	K562	blood:
7	chr15:93344712..93371031-chr15:93418700..93467618,365	MCF-7	breast:
8	chr15:93447206..93447977-chr7:92219229..92219786,2	Hela-S3	cervix:
9	chr15:93447120..93447857-chr5:90678601..90679265,2	Hela-S3	cervix:
10	chr15:93447524..93448382-chr6:26031858..26032389,2	Hela-S3	cervix:
11	chr15:93447265..93448261-chr17:34891284..34891890,2	Hela-S3	cervix:
12	chr14:102227706..102228357-chr15:93447299..93448177,2	NB4	blood:
13	chr15:93337836..93370220-chr15:93420085..93452591,332	K562	blood:
14	chr15:93345383..93371459-chr15:93416796..93454653,318	MCF-7	breast:
15	chr1:11967066..11969655-chr15:93447237..93449249,2	K562	blood:
16	chr12:46766107..46766691-chr15:93447608..93448189,2	Hela-S3	cervix:
17	chr10:74033309..74033899-chr15:93447390..93448334,2	Hela-S3	cervix:

Variant related genes	Relation type
CHD2	TF binding region
CHD2	CpG island
ENSG00000199347	Chromatin interaction
ENSG00000113369	Chromatin interaction
ENSG00000234545	Chromatin interaction
ENSG00000258922	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000141140	Chromatin interaction
ENSG00000173575	Chromatin interaction
ENSG00000099624	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000168209	Chromatin interaction
ENSG00000184886	Chromatin interaction
ENSG00000185442	Chromatin interaction
ENSG00000166619	Chromatin interaction
ENSG00000078304	Chromatin interaction
ENSG00000103067	Chromatin interaction
ENSG00000258527	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10852185	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11074119	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1143115	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12903587	0.82[AMR][1000 genomes]
rs12904071	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12907473	0.85[EUR][1000 genomes]
rs12908968	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1439618	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs3826037	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4146836	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4146837	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
2	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
3	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
4	nsv530846	chr15:93323949-94030462	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
5	nsv948881	chr15:93383740-93603608	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv1047496	chr15:93412778-93475878	Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
7	nsv1036560	chr15:93413594-93462163	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
8	nsv530847	chr15:93444024-93555676	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
9	nsv917347	chr15:93444094-93586814	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 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	chr15:93442600-93449000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr15:93443000-93448200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr15:93443000-93448200	Active TSS	NHEK	skin
4	chr15:93443000-93448600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr15:93443200-93448000	Active TSS	Brain Substantia Nigra	brain
6	chr15:93443200-93448200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr15:93443200-93448200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr15:93443200-93448200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr15:93443200-93448200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:93443200-93448200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr15:93443200-93448200	Active TSS	Duodenum Mucosa	Duodenum
12	chr15:93443200-93448400	Active TSS	H1 Cell Line	embryonic stem cell
13	chr15:93443200-93448400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:93443200-93448400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr15:93443200-93448400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:93443200-93448400	Active TSS	Brain Germinal Matrix	brain
17	chr15:93443200-93448400	Active TSS	Placenta	Placenta
18	chr15:93443200-93448400	Active TSS	Fetal Stomach	stomach
19	chr15:93443200-93448400	Active TSS	HSMM	muscle
20	chr15:93443200-93448600	Active TSS	Colonic Mucosa	Colon
21	chr15:93443200-93448800	Active TSS	Aorta	Aorta
22	chr15:93443200-93448800	Active TSS	Fetal Muscle Trunk	muscle
23	chr15:93443200-93448800	Active TSS	Ovary	ovary
24	chr15:93443200-93449200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr15:93443200-93449400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:93443200-93449800	Active TSS	Right Ventricle	heart
27	chr15:93443200-93450000	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr15:93443200-93450000	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr15:93443400-93448200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:93443400-93448200	Active TSS	Fetal Intestine Large	intestine
31	chr15:93443400-93448200	Active TSS	Fetal Thymus	thymus
32	chr15:93443400-93448400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr15:93443400-93448400	Active TSS	Thymus	Thymus
34	chr15:93443400-93449200	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr15:93443400-93449800	Active TSS	Psoas Muscle	Psoas
36	chr15:93443400-93450000	Active TSS	Right Atrium	heart
37	chr15:93443600-93448200	Active TSS	Stomach Mucosa	stomach
38	chr15:93443600-93448400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr15:93443600-93448400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:93443600-93448600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr15:93443600-93449200	Active TSS	Fetal Muscle Leg	muscle
42	chr15:93445000-93448000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr15:93445600-93448000	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr15:93446000-93448000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:93446000-93448200	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr15:93446200-93448200	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr15:93446200-93448200	Active TSS	Primary T cells fromperipheralblood	blood
48	chr15:93446200-93448200	Active TSS	Muscle Satellite Cultured Cells	--
49	chr15:93446200-93448200	Active TSS	Brain Hippocampus Middle	brain
50	chr15:93446200-93448400	Active TSS	Fetal Intestine Small	intestine

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