Variant report

Variant	rs62007299
Chromosome Location	chr15:77711719-77711720
allele	A/G
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	E2F6	chr15:77711687-77713457	K562	blood:	n/a	chr15:77712417-77712427 chr15:77712728-77712737
2	SIN3AK20	chr15:77711369-77712093	SK-N-SH	brain:	n/a	n/a
3	RUNX3	chr15:77711513-77711915	GM12878	blood:	n/a	n/a
4	MXI1	chr15:77711589-77711768	K562	blood:	n/a	n/a
5	RFX5	chr15:77711201-77712051	Hela-S3	cervix:	n/a	n/a
6	MAZ	chr15:77711447-77713888	GM12878	blood:	n/a	chr15:77711944-77711954 chr15:77712740-77712750
7	EGR1	chr15:77711609-77712285	K562	blood:	n/a	chr15:77712082-77712096 chr15:77711945-77711955 chr15:77711647-77711660
8	RUNX3	chr15:77711514-77713773	GM12878	blood:	n/a	n/a
9	ELF1	chr15:77711519-77712921	GM12878	blood:	n/a	chr15:77712419-77712428 chr15:77712001-77712013 chr15:77712362-77712371 chr15:77712737-77712749 chr15:77711858-77711867 chr15:77712415-77712427
10	CHD2	chr15:77711455-77713966	Hela-S3	cervix:	n/a	chr15:77711545-77711555
11	POLR2A	chr15:77710728-77713515	IMR90	lung:	n/a	n/a
12	TBP	chr15:77711447-77712018	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr15:77711409-77713847	HepG2	liver:	n/a	n/a
14	MAZ	chr15:77711446-77713738	K562	blood:	n/a	chr15:77711944-77711954 chr15:77712740-77712750
15	ZBTB7A	chr15:77711340-77712620	ECC-1	luminal epithelium:	n/a	chr15:77712372-77712383 chr15:77711763-77711774 chr15:77712371-77712382
16	POLR2A	chr15:77711707-77712075	GM12878	blood:	n/a	n/a
17	UBTF	chr15:77711276-77713516	K562	blood:	n/a	n/a
18	POLR2A	chr15:77711498-77713674	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr15:77711580-77711730	GM12864	blood:	n/a	n/a
20	MAZ	chr15:77711510-77713691	HepG2	liver:	n/a	chr15:77711944-77711954 chr15:77712740-77712750
21	BHLHE40	chr15:77711542-77711961	K562	blood:	n/a	n/a
22	RAD21	chr15:77711621-77712529	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr15:77711610-77712930	MCF-7	breast:	n/a	n/a
24	ZNF143	chr15:77711591-77711852	Hela-S3	cervix:	n/a	n/a
25	SMC3	chr15:77711175-77714043	Hela-S3	cervix:	n/a	chr15:77711935-77711945
26	ZBTB7A	chr15:77711440-77712531	K562	blood:	n/a	chr15:77712372-77712383 chr15:77711763-77711774 chr15:77712371-77712382
27	E2F4	chr15:77711661-77711825	MCF10A-Er-Src	breast:	n/a	n/a
28	RCOR1	chr15:77711260-77714321	K562	blood:	n/a	n/a
29	MAZ	chr15:77710652-77714451	IMR90	lung:	n/a	chr15:77711944-77711954 chr15:77712740-77712750
30	PML	chr15:77711206-77711910	GM12878	blood:	n/a	n/a
31	MAX	chr15:77711447-77713980	Hela-S3	cervix:	n/a	chr15:77711944-77711954 chr15:77712740-77712750
32	RAD21	chr15:77710639-77712623	IMR90	lung:	n/a	chr15:77711533-77711547
33	MXI1	chr15:77711388-77711914	GM12878	blood:	n/a	n/a
34	CCNT2	chr15:77711707-77712760	K562	blood:	n/a	n/a
35	POLR2A	chr15:77711534-77712015	GM12891	blood:	n/a	n/a
36	E2F6	chr15:77711687-77712090	K562	blood:	n/a	n/a
37	ZNF384	chr15:77711400-77711899	K562	blood:	n/a	n/a
38	MAX	chr15:77711463-77713990	K562	blood:	n/a	chr15:77711944-77711954 chr15:77712740-77712750
39	CREB1	chr15:77711461-77713745	GM12878	blood:	n/a	n/a
40	POLR2A	chr15:77711514-77713788	NB4	blood:	n/a	n/a
41	ZKSCAN1	chr15:77711430-77711971	Hela-S3	cervix:	n/a	n/a
42	WRNIP1	chr15:77711505-77711796	GM12878	blood:	n/a	n/a
43	POLR2A	chr15:77711699-77711734	K562	blood:	n/a	n/a
44	POLR2A	chr15:77711700-77712101	GM12892	blood:	n/a	n/a
45	HMGN3	chr15:77711657-77712807	K562	blood:	n/a	n/a
46	CTCF	chr15:77711700-77711850	HMEC	breast:	n/a	n/a
47	CREB1	chr15:77711705-77712926	A549	lung:	n/a	n/a
48	POLR2A	chr15:77711628-77713973	GM19193	blood:	n/a	n/a
49	MXI1	chr15:77711677-77711875	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr15:77711662-77711962	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:77711686-77711736	HEK293	kidney:	embryo
2	chr15:77711686-77711736	SK-N-SH	brain:	n/a
3	chr15:77711686-77711736	AG09309	skin:	n/a
4	chr15:77711686-77711736	ECC-1	luminal epithelium:	n/a
5	chr15:77711686-77711736	AG09319	gingival:	n/a
6	chr15:77711686-77711736	Hepatocyte	liver:	n/a
7	chr15:77711686-77711736	SAEC	small airway:	n/a
8	chr15:77711686-77711736	RPTEC	kidney:	n/a
9	chr15:77711686-77711736	SK-N-MC	brain:	n/a
10	chr15:77711686-77711736	HCM	heart:	n/a
11	chr15:77711686-77711736	NB4	blood:	n/a
12	chr15:77711686-77711736	PrEC	prostate:	n/a
13	chr15:77711686-77711736	GM12892	blood:	n/a
14	chr15:77711686-77711736	HRE	kidney:	n/a
15	chr15:77711686-77711736	HRCEpiC	kidney:	n/a
16	chr15:77711686-77711736	LNCaP	prostate:	n/a
17	chr15:77711686-77711736	SKMC	muscle:	n/a
18	chr15:77711686-77711736	PANC-1	pancreas:	n/a
19	chr15:77711686-77711736	AG04449	skin:	fetal
20	chr15:77711686-77711736	HCT-116	colon:	n/a
21	chr15:77711686-77711736	MCF-7	breast:	n/a
22	chr15:77711686-77711736	IMR90	lung:	fetal
23	chr15:77711686-77711736	GM12891	blood:	n/a
24	chr15:77711686-77711736	Caco-2	colon:	n/a
25	chr15:77711686-77711736	HNPCEpiC	eye:	n/a
26	chr15:77711686-77711736	GM12878	blood:	n/a
27	chr15:77711686-77711736	HMEC	breast:	n/a
28	chr15:77711686-77711736	Jurkat	blood:	n/a
29	chr15:77711686-77711736	NHBE	bronchial:	n/a
30	chr15:77711686-77711736	GM06990	blood:	n/a
31	chr15:77711686-77711736	GM19239	blood:	n/a
32	chr15:77711686-77711736	AG10803	skin:	n/a
33	chr15:77711686-77711736	MCF10A-Er-Src	breast:	n/a
34	chr15:77711686-77711736	NHDF-neo	bronchial:	n/a
35	chr15:77711686-77711736	HEEpiC	esophagus:	n/a
36	chr15:77711686-77711736	BE2_C	brain:	n/a
37	chr15:77711686-77711736	BJ	skin:	n/a
38	chr15:77711686-77711736	HepG2	liver:	n/a
39	chr15:77711686-77711736	NT2-D1	testis:	n/a
40	chr15:77711686-77711736	SK-N-SH_RA	brain:	n/a
41	chr15:77711686-77711736	HRPEpiC	eye:	n/a
42	chr15:77711686-77711736	CMK	blood:	n/a
43	chr15:77711686-77711736	AG04450	lung:	fetal
44	chr15:77711686-77711736	HL-60	blood:	n/a
45	chr15:77711686-77711736	HCPEpiC	choroid plexus:	n/a
46	chr15:77711686-77711736	HAEpiC	amniotic membrane:	n/a
47	chr15:77711686-77711736	HCF	heart:	n/a
48	chr15:77711686-77711736	HIPEpiC	eye:	n/a
49	chr15:77711686-77711736	U87	brain:	n/a
50	chr15:77711686-77711736	A549	lung:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:77688577..77690434-chr15:77709040..77711857,2	K562	blood:

Variant related genes	Relation type
HMG20A	TF binding region
HMG20A	CpG island

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1005752	0.80[ASN][1000 genomes]
rs10152181	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1022172	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11072653	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11632966	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11633054	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11636554	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11852471	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11857294	0.82[ASN][1000 genomes]
rs11857450	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11858641	0.81[ASN][1000 genomes]
rs1191196	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12324627	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12901503	0.80[ASN][1000 genomes]
rs12904938	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12905951	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12906708	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12910361	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12910480	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12911371	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12912050	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12914345	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1389436	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1473922	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1493700	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1565756	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1565757	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1602925	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2055901	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2175941	0.81[ASN][1000 genomes]
rs34591043	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4886515	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4886858	0.94[ASN][1000 genomes]
rs4886862	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4886866	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4886869	0.89[ASN][1000 genomes]
rs59153558	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62008452	0.81[ASN][1000 genomes]
rs6495240	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7119	0.86[AFR][1000 genomes]
rs7166927	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7167794	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7175674	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7176302	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7178572	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8024485	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8030074	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8034133	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8037561	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs952471	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs952472	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs965480	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[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	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1045376	chr15:77354671-77801487	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv542443	chr15:77354671-77801487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv482689	chr15:77576396-77731559	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv21291	chr15:77707945-77712363	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3422226	chr15:77710922-77713870	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
8	esv3327387	chr15:77711172-77713620	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
9	esv3373572	chr15:77711697-77713495	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77709600-77712600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr15:77709600-77713800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr15:77710200-77713600	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr15:77710200-77714400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:77710200-77714400	Active TSS	Right Atrium	heart
6	chr15:77710400-77713800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:77710400-77714400	Active TSS	Right Ventricle	heart
8	chr15:77710400-77714400	Active TSS	NHDF-Ad	bronchial
9	chr15:77710400-77714600	Active TSS	NHLF	lung
10	chr15:77710600-77711800	Flanking Active TSS	Dnd41	blood
11	chr15:77710600-77713600	Active TSS	HSMMtube	muscle
12	chr15:77710600-77713800	Active TSS	Colon Smooth Muscle	Colon
13	chr15:77710600-77713800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr15:77710600-77714200	Active TSS	H1 Cell Line	embryonic stem cell
15	chr15:77710600-77714200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:77710600-77714600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:77710800-77711800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr15:77710800-77711800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr15:77710800-77711800	Flanking Active TSS	NHEK	skin
20	chr15:77710800-77712000	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr15:77710800-77712000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:77710800-77713600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr15:77710800-77713600	Active TSS	Fetal Kidney	kidney
24	chr15:77710800-77713600	Active TSS	Placenta	Placenta
25	chr15:77710800-77713800	Active TSS	Duodenum Mucosa	Duodenum
26	chr15:77710800-77714000	Active TSS	Colonic Mucosa	Colon
27	chr15:77710800-77714000	Active TSS	Left Ventricle	heart
28	chr15:77710800-77714200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr15:77710800-77714200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr15:77710800-77714200	Active TSS	Fetal Muscle Trunk	muscle
31	chr15:77710800-77714200	Active TSS	Psoas Muscle	Psoas
32	chr15:77710800-77714600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr15:77711000-77711800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
34	chr15:77711000-77711800	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr15:77711000-77712000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:77711000-77713600	Active TSS	Fetal Muscle Leg	muscle
37	chr15:77711000-77713800	Active TSS	Fetal Stomach	stomach
38	chr15:77711000-77713800	Active TSS	Osteobl	bone
39	chr15:77711000-77714000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:77711000-77714000	Active TSS	Lung	lung
41	chr15:77711000-77714000	Active TSS	Ovary	ovary
42	chr15:77711000-77714000	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr15:77711000-77714200	Active TSS	Aorta	Aorta
44	chr15:77711000-77714400	Active TSS	Stomach Smooth Muscle	stomach
45	chr15:77711000-77714800	Active TSS	K562	blood
46	chr15:77711200-77711800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr15:77711200-77711800	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr15:77711200-77711800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr15:77711200-77711800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr15:77711200-77711800	Flanking Active TSS	Fetal Brain Male	brain

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