Variant report

Variant	rs4750015
Chromosome Location	chr10:6183592-6183593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:123)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:123 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr10:6183304-6183788	T-47D	breast:	n/a	n/a
2	GATA3	chr10:6183017-6183982	SK-N-SH	brain:	n/a	n/a
3	MEF2A	chr10:6183073-6183865	GM12878	blood:	n/a	n/a
4	MAX	chr10:6183153-6183869	MCF-7	breast:	n/a	n/a
5	ZEB1	chr10:6183303-6183684	GM12878	blood:	n/a	n/a
6	CEBPB	chr10:6183069-6183922	GM12878	blood:	n/a	n/a
7	KAP1	chr10:6183462-6183964	U2OS	brain:	n/a	n/a
8	UBTF	chr10:6183486-6183694	K562	blood:	n/a	n/a
9	PAX5	chr10:6183105-6183667	GM12878	blood:	n/a	n/a
10	MAFK	chr10:6183114-6184001	IMR90	lung:	n/a	n/a
11	NFIC	chr10:6182771-6184235	GM12878	blood:	n/a	n/a
12	POLR2A	chr10:6183540-6183624	GM12878	blood:	n/a	n/a
13	MXI1	chr10:6182941-6184025	IMR90	lung:	n/a	n/a
14	FOXM1	chr10:6182764-6184342	GM12878	blood:	n/a	n/a
15	MAX	chr10:6183095-6183820	SK-N-SH	brain:	n/a	n/a
16	MAZ	chr10:6183107-6183941	K562	blood:	n/a	n/a
17	RELA	chr10:6182915-6184102	GM18505	blood:	n/a	n/a
18	TCF12	chr10:6182957-6184001	SK-N-SH	brain:	n/a	n/a
19	MXI1	chr10:6182817-6184057	GM12878	blood:	n/a	n/a
20	PBX3	chr10:6183063-6183962	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr10:6182780-6184101	GM12878	blood:	n/a	n/a
22	BCLAF1	chr10:6182798-6184187	GM12878	blood:	n/a	n/a
23	ZNF143	chr10:6183025-6183702	GM12878	blood:	n/a	n/a
24	SPI1	chr10:6183047-6183664	GM12891	blood:	n/a	n/a
25	MAX	chr10:6183160-6183764	A549	lung:	n/a	n/a
26	GATA2	chr10:6183424-6183713	K562	blood:	n/a	n/a
27	CHD1	chr10:6182777-6184233	IMR90	lung:	n/a	n/a
28	CUX1	chr10:6183114-6184085	GM12878	blood:	n/a	n/a
29	BCL11A	chr10:6182829-6184316	GM12878	blood:	n/a	n/a
30	MAX	chr10:6183082-6183864	A549	lung:	n/a	n/a
31	JUND	chr10:6183005-6183809	SK-N-SH	brain:	n/a	chr10:6183319-6183331
32	EBF1	chr10:6182473-6184172	GM12878	blood:	n/a	n/a
33	E2F6	chr10:6183356-6183859	K562	blood:	n/a	n/a
34	CHD1	chr10:6182327-6184009	GM12878	blood:	n/a	n/a
35	POU2F2	chr10:6182966-6184125	GM12878	blood:	n/a	n/a
36	IRF4	chr10:6182862-6184208	GM12878	blood:	n/a	n/a
37	POLR2A	chr10:6183522-6183821	U87	brain:	n/a	n/a
38	IKZF1	chr10:6182317-6184632	GM12878	blood:	n/a	n/a
39	GATA2	chr10:6183363-6183748	SH-SY5Y	brain:	n/a	n/a
40	MAZ	chr10:6182597-6184110	GM12878	blood:	n/a	n/a
41	JUND	chr10:6183037-6183834	SK-N-SH	brain:	n/a	chr10:6183319-6183331
42	POLR2A	chr10:6183184-6183798	U87	brain:	n/a	n/a
43	POLR2A	chr10:6183096-6183788	SK-N-SH	brain:	n/a	n/a
44	RCOR1	chr10:6182943-6184039	GM12878	blood:	n/a	n/a
45	JUND	chr10:6183239-6183752	K562	blood:	n/a	chr10:6183319-6183331
46	RUNX3	chr10:6182401-6184334	GM12878	blood:	n/a	chr10:6183700-6183709
47	SIN3AK20	chr10:6183059-6183756	SK-N-SH	brain:	n/a	n/a
48	MAX	chr10:6183375-6183741	K562	blood:	n/a	n/a
49	PAX5	chr10:6183129-6183719	GM12878	blood:	n/a	n/a
50	UBTF	chr10:6183376-6183696	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:6183575-6183625	HL-60	blood:	n/a
2	chr10:6183575-6183625	HUVEC	blood vessel:	n/a
3	chr10:6183575-6183625	U87	brain:	n/a
4	chr10:6183575-6183625	HPAEpiC	pulmonary alveolar:	n/a
5	chr10:6183575-6183625	HRCEpiC	kidney:	n/a
6	chr10:6183575-6183625	ProgFib	skin:	n/a
7	chr10:6183575-6183625	Jurkat	blood:	n/a
8	chr10:6183575-6183625	SK-N-MC	brain:	n/a
9	chr10:6183575-6183625	HAEpiC	amniotic membrane:	n/a
10	chr10:6183575-6183625	Hepatocyte	liver:	n/a
11	chr10:6183575-6183625	AG04450	lung:	fetal
12	chr10:6183575-6183625	PrEC	prostate:	n/a
13	chr10:6183575-6183625	PANC-1	pancreas:	n/a
14	chr10:6183575-6183625	NHBE	bronchial:	n/a
15	chr10:6183575-6183625	SKMC	muscle:	n/a
16	chr10:6183575-6183625	A549	lung:	n/a
17	chr10:6183575-6183625	AG04449	skin:	fetal
18	chr10:6183575-6183625	AoSMC	blood vessel:	n/a
19	chr10:6183575-6183625	NT2-D1	testis:	n/a
20	chr10:6183575-6183625	SK-N-SH_RA	brain:	n/a
21	chr10:6183575-6183625	RPTEC	kidney:	n/a
22	chr10:6183575-6183625	GM12891	blood:	n/a
23	chr10:6183575-6183625	ovcar-3	ovarian:	n/a
24	chr10:6183575-6183625	HNPCEpiC	eye:	n/a
25	chr10:6183575-6183625	HCPEpiC	choroid plexus:	n/a
26	chr10:6183575-6183625	GM12892	blood:	n/a
27	chr10:6183575-6183625	CMK	blood:	n/a
28	chr10:6183575-6183625	T-47D	breast:	n/a
29	chr10:6183575-6183625	AG09319	gingival:	n/a
30	chr10:6183575-6183625	GM12878	blood:	n/a
31	chr10:6183575-6183625	SK-N-SH	brain:	n/a
32	chr10:6183575-6183625	NH-A	brain:	n/a
33	chr10:6183575-6183625	HRE	kidney:	n/a
34	chr10:6183575-6183625	GM06990	blood:	n/a
35	chr10:6183575-6183625	HMEC	breast:	n/a
36	chr10:6183575-6183625	MCF10A-Er-Src	breast:	n/a
37	chr10:6183575-6183625	HCT-116	colon:	n/a
38	chr10:6183575-6183625	GM19239	blood:	n/a
39	chr10:6183575-6183625	HepG2	liver:	n/a
40	chr10:6183575-6183625	HEK293	kidney:	embryo
41	chr10:6183575-6183625	BE2_C	brain:	n/a
42	chr10:6183575-6183625	HIPEpiC	eye:	n/a
43	chr10:6183575-6183625	HCF	heart:	n/a
44	chr10:6183575-6183625	HRPEpiC	eye:	n/a
45	chr10:6183575-6183625	Hela-S3	cervix:	n/a
46	chr10:6183575-6183625	Caco-2	colon:	n/a
47	chr10:6183575-6183625	SAEC	small airway:	n/a
48	chr10:6183575-6183625	LNCaP	prostate:	n/a
49	chr10:6183575-6183625	MCF-7	breast:	n/a
50	chr10:6183575-6183625	ECC-1	luminal epithelium:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6182309..6185774-chr10:6185942..6188983,5	MCF-7	breast:
2	chr10:6171947..6174676-chr10:6182111..6184339,3	MCF-7	breast:
3	chr10:6182985..6185643-chr10:6203385..6205220,2	K562	blood:
4	chr10:6180971..6185195-chr10:6203384..6207419,4	MCF-7	breast:

No data

Variant related genes	Relation type
PFKFB3	TF binding region
PFKFB3	CpG island
ENSG00000170525	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10400124	0.82[ASN][1000 genomes]
rs10400125	0.82[ASN][1000 genomes]
rs10400165	0.82[ASN][1000 genomes]
rs11256954	0.81[ASN][1000 genomes]
rs12218872	0.82[ASN][1000 genomes]
rs12219621	0.81[ASN][1000 genomes]
rs12219630	0.82[ASN][1000 genomes]
rs4747887	0.82[ASN][1000 genomes]
rs4747888	0.82[ASN][1000 genomes]
rs4750012	0.82[ASN][1000 genomes]
rs4750016	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7099083	0.82[ASN][1000 genomes]
rs7476043	0.81[ASN][1000 genomes]
rs943121	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer 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	50 gene(s)	inside rSNPs	diseases
2	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer 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	76 gene(s)	inside rSNPs	diseases
3	nsv1040721	chr10:6155144-6322566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
4	nsv540476	chr10:6155144-6322566	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv1054044	chr10:6155144-6487217	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh 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	40 gene(s)	inside rSNPs	diseases
6	nsv894816	chr10:6173416-6190343	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv894817	chr10:6173416-6251252	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6176600-6185000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:6181600-6183600	Enhancers	Spleen	Spleen
3	chr10:6181600-6184000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
4	chr10:6181800-6183600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr10:6182000-6183600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr10:6182000-6183800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr10:6182000-6184000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:6182000-6184400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr10:6182000-6185400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr10:6182200-6183600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr10:6182200-6183600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr10:6182200-6184000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr10:6182200-6184000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr10:6182200-6184000	Flanking Active TSS	GM12878-XiMat	blood
15	chr10:6182400-6183600	Active TSS	Rectal Smooth Muscle	rectum
16	chr10:6182400-6184000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr10:6182400-6184000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
18	chr10:6182400-6184000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr10:6182400-6184000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr10:6182400-6184000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr10:6182400-6184000	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr10:6182400-6184200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr10:6182400-6184200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr10:6182600-6183600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr10:6182600-6183600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr10:6182600-6184000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr10:6182600-6185000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr10:6182800-6184000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr10:6182800-6186200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr10:6183000-6183600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr10:6183000-6183800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
32	chr10:6183000-6183800	Enhancers	HMEC	breast
33	chr10:6183000-6184000	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr10:6183000-6184000	Active TSS	Colonic Mucosa	Colon
35	chr10:6183000-6184000	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr10:6183000-6184000	Active TSS	Stomach Smooth Muscle	stomach
37	chr10:6183000-6184000	Flanking Active TSS	NH-A	brain
38	chr10:6183000-6184200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr10:6183000-6184400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr10:6183000-6185000	Weak transcription	Primary B cells from cord blood	blood
41	chr10:6183000-6185200	Weak transcription	Pancreas	Pancrea
42	chr10:6183000-6185400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr10:6183000-6185800	Weak transcription	Primary T cells from cord blood	blood
44	chr10:6183000-6186000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr10:6183000-6186200	Weak transcription	Brain Angular Gyrus	brain
46	chr10:6183000-6186200	Weak transcription	HUVEC	blood vessel
47	chr10:6183200-6183600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr10:6183200-6183600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr10:6183200-6183600	Bivalent Enhancer	Fetal Kidney	kidney
50	chr10:6183200-6183600	Flanking Bivalent TSS/Enh	HepG2	liver

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