Variant report

Variant	rs73724791
Chromosome Location	chr6:15249824-15249825
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	STAT3	chr6:15249777-15249968	MCF10A-Er-Src	breast:	n/a	n/a
2	BRCA1	chr6:15248771-15249972	Hela-S3	cervix:	n/a	n/a
3	CREB1	chr6:15247870-15249858	GM12878	blood:	n/a	chr6:15248972-15248985 chr6:15249021-15249034
4	CREB1	chr6:15247845-15250008	K562	blood:	n/a	chr6:15248972-15248985 chr6:15249021-15249034
5	MTA3	chr6:15249165-15249863	GM12878	blood:	n/a	n/a
6	MTA3	chr6:15248694-15250134	GM12878	blood:	n/a	n/a
7	MXI1	chr6:15248838-15250074	GM12878	blood:	n/a	n/a
8	SMC3	chr6:15248813-15250273	Hela-S3	cervix:	n/a	n/a
9	STAT3	chr6:15249805-15250061	MCF10A-Er-Src	breast:	n/a	n/a
10	CUX1	chr6:15249753-15249975	GM12878	blood:	n/a	n/a
11	HCFC1	chr6:15244775-15250295	Hela-S3	cervix:	n/a	n/a
12	CHD1	chr6:15244739-15251552	IMR90	lung:	n/a	chr6:15245627-15245637 chr6:15245113-15245123
13	POLR2A	chr6:15248712-15249854	SK-N-MC	brain:	n/a	n/a
14	REST	chr6:15247751-15250156	H1-neurons	neurons:	n/a	chr6:15249880-15249888 chr6:15249689-15249697 chr6:15249264-15249274
15	MYC	chr6:15249200-15250181	MCF10A-Er-Src	breast:	n/a	n/a
16	MAX	chr6:15248710-15249959	NB4	blood:	n/a	n/a
17	POLR2A	chr6:15247966-15250036	Hela-S3	cervix:	n/a	n/a
18	MYC	chr6:15248651-15249925	K562	blood:	n/a	n/a
19	STAT5A	chr6:15248731-15249978	GM12878	blood:	n/a	chr6:15249387-15249398
20	JUN	chr6:15248675-15250516	K562	blood:	n/a	chr6:15249266-15249275 chr6:15248974-15248983
21	TBP	chr6:15248708-15249836	K562	blood:	n/a	n/a
22	RUNX3	chr6:15248718-15250055	GM12878	blood:	n/a	n/a
23	POLR2A	chr6:15248049-15249965	GM12878	blood:	n/a	n/a
24	TEAD4	chr6:15248611-15249936	K562	blood:	n/a	n/a
25	POLR2A	chr6:15244299-15251638	IMR90	lung:	n/a	n/a
26	MAZ	chr6:15244502-15250215	IMR90	lung:	n/a	chr6:15245090-15245099 chr6:15245854-15245864 chr6:15245068-15245078 chr6:15245035-15245044 chr6:15246339-15246347 chr6:15245866-15245875
27	CREB1	chr6:15248632-15249953	K562	blood:	n/a	chr6:15248972-15248985 chr6:15249021-15249034
28	MXI1	chr6:15248061-15249896	HepG2	liver:	n/a	n/a
29	SIN3AK20	chr6:15247682-15250303	MCF-7	breast:	n/a	n/a
30	MAX	chr6:15247831-15250040	Hela-S3	cervix:	n/a	n/a
31	SIN3A	chr6:15244262-15249916	H1-hESC	embryonic stem cell:	n/a	chr6:15245781-15245794 chr6:15245860-15245873 chr6:15246111-15246122 chr6:15248713-15248724
32	KAP1	chr6:15249229-15250163	U2OS	brain:	n/a	n/a
33	WRNIP1	chr6:15249244-15250186	GM12878	blood:	n/a	n/a
34	NR2F2	chr6:15248665-15249927	K562	blood:	n/a	n/a
35	ZNF263	chr6:15248822-15249964	HEK293-T-REx	kidney:	n/a	chr6:15249012-15249021 chr6:15249273-15249282
36	POLR2A	chr6:15247882-15249979	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr6:15248784-15250234	Hela-S3	cervix:	n/a	chr6:15250010-15250019 chr6:15250010-15250019 chr6:15250008-15250019
38	TCF7L2	chr6:15249136-15249856	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr6:15248633-15249830	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr6:15248702-15250118	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:15248895..15250425-chr6:16129384..16130957,2	K562	blood:
2	chr18:57566476..57568620-chr6:15247479..15249980,2	K562	blood:
3	chr6:15155665..15157322-chr6:15249355..15251263,2	K562	blood:
4	chr6:15248004..15250330-chr6:15324617..15327935,3	K562	blood:
5	chr6:15087836..15090279-chr6:15247303..15249952,4	K562	blood:
6	chr10:103577822..103578398-chr6:15249181..15249836,2	Hela-S3	cervix:
7	chr6:15087697..15092455-chr6:15243972..15249952,11	K562	blood:
8	chr6:15249702..15251609-chr6:15440031..15441697,2	MCF-7	breast:

Variant related genes	Relation type
JARID2-AS1	TF binding region
ENSG00000271888	TF binding region
ENSG00000007944	Chromatin interaction
ENSG00000198408	Chromatin interaction
ENSG00000234261	Chromatin interaction
ENSG00000141682	Chromatin interaction
ENSG00000201519	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs58813262	1.00[AFR][1000 genomes]
rs73724763	1.00[AFR][1000 genomes]
rs73724766	1.00[AFR][1000 genomes]
rs73724792	1.00[AFR][1000 genomes]
rs73726506	1.00[AFR][1000 genomes]
rs73726545	1.00[AFR][1000 genomes]
rs73726551	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830594	chr6:15171158-15261296	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1027010	chr6:15201803-15425629	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers 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 target site	29 gene(s)	inside rSNPs	diseases
4	nsv1030558	chr6:15234675-15449137	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv538142	chr6:15243960-15404893	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv1818166	chr6:15247393-15250052	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	esv3426622	chr6:15247498-15250346	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv3511820	chr6:15247723-15249971	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	esv3511821	chr6:15247723-15249971	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15243600-15250200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr6:15244000-15250000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:15244400-15250200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:15244400-15250400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:15244600-15250000	Active TSS	NHLF	lung
6	chr6:15244600-15250200	Active TSS	A549	lung
7	chr6:15244600-15250400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr6:15244800-15250000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:15245000-15250000	Active TSS	Colonic Mucosa	Colon
10	chr6:15245000-15250800	Active TSS	GM12878-XiMat	blood
11	chr6:15245000-15251000	Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr6:15245200-15250400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:15245400-15250800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:15247800-15250200	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr6:15249000-15250000	Flanking Active TSS	Fetal Brain Male	brain
16	chr6:15249000-15251800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:15249200-15250000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr6:15249200-15250000	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
19	chr6:15249200-15250000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:15249200-15250000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr6:15249200-15250000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr6:15249200-15250000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:15249200-15250000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr6:15249200-15250000	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr6:15249200-15250000	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr6:15249200-15250000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr6:15249200-15250000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr6:15249200-15250000	Active TSS	Right Atrium	heart
29	chr6:15249200-15250000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr6:15249200-15250000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr6:15249200-15250200	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr6:15249200-15250200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:15249200-15250200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr6:15249200-15250200	Flanking Active TSS	Fetal Thymus	thymus
35	chr6:15249200-15250200	Flanking Active TSS	HMEC	breast
36	chr6:15249200-15250200	Flanking Active TSS	NH-A	brain
37	chr6:15249200-15250200	Flanking Active TSS	NHEK	skin
38	chr6:15249200-15250200	Flanking Active TSS	Osteobl	bone
39	chr6:15249200-15250400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:15249200-15250400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
41	chr6:15249200-15250400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr6:15249200-15250400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr6:15249200-15250400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr6:15249200-15250400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr6:15249200-15250400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr6:15249200-15250400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:15249200-15250400	Flanking Active TSS	Dnd41	blood
48	chr6:15249200-15250400	Flanking Active TSS	K562	blood
49	chr6:15249200-15250600	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr6:15249200-15250800	Active TSS	ES-I3 Cell Line	embryonic stem cell

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