Variant report

Variant	rs28592114
Chromosome Location	chr15:92396260-92396261
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	POLR2A	chr15:92396214-92397322	H1-neurons	neurons:	n/a	n/a
2	MAX	chr15:92395781-92397743	A549	lung:	n/a	chr15:92397690-92397706 chr15:92397580-92397590
3	EP300	chr15:92396191-92397476	SK-N-SH	brain:	n/a	chr15:92397056-92397072 chr15:92396434-92396450 chr15:92397400-92397416 chr15:92396547-92396563 chr15:92397464-92397473 chr15:92396711-92396727 chr15:92397059-92397075 chr15:92397007-92397016
4	EP300	chr15:92395820-92396580	GM12878	blood:	n/a	chr15:92396434-92396450 chr15:92396547-92396563 chr15:92396037-92396053 chr15:92396162-92396176
5	CTCF	chr15:92395951-92396286	GM19238	blood:	n/a	chr15:92396239-92396252
6	REST	chr15:92395914-92396553	A549	lung:	n/a	n/a
7	ELK1	chr15:92395686-92396390	Hela-S3	cervix:	n/a	n/a
8	SIN3A	chr15:92395781-92396778	H1-hESC	embryonic stem cell:	n/a	chr15:92396217-92396230 chr15:92396104-92396113 chr15:92396013-92396024
9	CTCF	chr15:92395406-92397813	SK-N-SH	brain:	n/a	chr15:92396518-92396534 chr15:92396517-92396535 chr15:92395772-92395785 chr15:92396239-92396252
10	POLR2A	chr15:92395220-92397694	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr15:92396020-92396298	GM10248	blood:	n/a	chr15:92396239-92396252
12	POLR2A	chr15:92395572-92396688	IMR90	lung:	n/a	n/a
13	CTCF	chr15:92395825-92396778	GM12878	blood:	n/a	chr15:92396518-92396534 chr15:92396517-92396535 chr15:92396239-92396252
14	RAD21	chr15:92395903-92396262	HepG2	liver:	n/a	chr15:92395983-92395993 chr15:92396009-92396023
15	CTCF	chr15:92396007-92396307	Hela-S3	cervix:	n/a	chr15:92396239-92396252
16	MYC	chr15:92396148-92396691	MCF10A-Er-Src	breast:	n/a	n/a
17	TAF1	chr15:92396192-92396697	Hela-S3	cervix:	n/a	n/a
18	ZNF143	chr15:92395821-92396699	Hela-S3	cervix:	n/a	chr15:92396533-92396543
19	SMC3	chr15:92395934-92396595	GM12878	blood:	n/a	chr15:92395983-92395993 chr15:92396519-92396533
20	MYC	chr15:92395800-92396661	K562	blood:	n/a	n/a
21	CTCF	chr15:92395958-92396677	Gliobla	brain:	n/a	chr15:92396518-92396534 chr15:92396517-92396535 chr15:92396239-92396252
22	UBTF	chr15:92395858-92397105	K562	blood:	n/a	n/a
23	CTBP2	chr15:92395807-92396639	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr15:92395957-92399695	Raji	blood:	n/a	n/a
25	POLR2A	chr15:92395889-92397569	A549	lung:	n/a	n/a
26	RAD21	chr15:92395762-92396678	A549	lung:	n/a	chr15:92396515-92396534 chr15:92395983-92395993 chr15:92396524-92396533 chr15:92396009-92396023
27	MAZ	chr15:92395442-92397945	IMR90	lung:	n/a	chr15:92397690-92397706 chr15:92397580-92397590
28	E2F6	chr15:92395849-92396761	A549	lung:	n/a	chr15:92396338-92396349 chr15:92396542-92396554 chr15:92396333-92396347 chr15:92396339-92396349
29	POLR2A	chr15:92396233-92396578	U87	brain:	n/a	n/a
30	PBX3	chr15:92396054-92396704	A549	lung:	n/a	n/a
31	ZNF143	chr15:92395894-92396695	K562	blood:	n/a	chr15:92396533-92396543
32	POLR2A	chr15:92396114-92397022	H1-hESC	embryonic stem cell:	n/a	n/a
33	RAD21	chr15:92395919-92396499	HepG2	liver:	n/a	chr15:92395983-92395993 chr15:92396009-92396023
34	MAX	chr15:92395910-92396287	GM12878	blood:	n/a	n/a
35	CTCF	chr15:92395929-92396306	MCF-7	breast:	n/a	chr15:92396239-92396252
36	RAD21	chr15:92395858-92396625	SK-N-SH_RA	brain:	n/a	chr15:92396515-92396534 chr15:92395983-92395993 chr15:92396524-92396533 chr15:92396009-92396023
37	RAD21	chr15:92395731-92396719	HCT-116	colon:	n/a	chr15:92396515-92396534 chr15:92395983-92395993 chr15:92396524-92396533 chr15:92396009-92396023
38	CTCF	chr15:92395937-92396689	HCT-116	colon:	n/a	chr15:92396518-92396534 chr15:92396517-92396535 chr15:92396239-92396252
39	TCF12	chr15:92395641-92396793	A549	lung:	n/a	chr15:92396220-92396230
40	REST	chr15:92395535-92398158	H1-neurons	neurons:	n/a	chr15:92395779-92395787 chr15:92397470-92397483 chr15:92397024-92397037 chr15:92397472-92397482
41	SMARCB1	chr15:92395842-92397972	Hela-S3	cervix:	n/a	n/a
42	RAD21	chr15:92395386-92398111	SK-N-SH	brain:	n/a	chr15:92396515-92396534 chr15:92397397-92397411 chr15:92395983-92395993 chr15:92397406-92397416 chr15:92396524-92396533 chr15:92396009-92396023
43	ZNF263	chr15:92395853-92397428	HEK293-T-REx	kidney:	n/a	n/a
44	EBF1	chr15:92396067-92396613	GM12878	blood:	n/a	n/a
45	SMC3	chr15:92395135-92398691	SK-N-SH	brain:	n/a	chr15:92395983-92395993 chr15:92396519-92396533
46	RAD21	chr15:92395748-92396789	SK-N-SH_RA	brain:	n/a	chr15:92396515-92396534 chr15:92395983-92395993 chr15:92396524-92396533 chr15:92396009-92396023
47	CEBPB	chr15:92395959-92396728	Hela-S3	cervix:	n/a	n/a
48	HCFC1	chr15:92395615-92396924	Hela-S3	cervix:	n/a	n/a
49	RCOR1	chr15:92395805-92396690	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr15:92396114-92396525	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:92396240-92396290	SK-N-MC	brain:	n/a
2	chr15:92396240-92396290	AG10803	skin:	n/a
3	chr15:92396240-92396290	A549	lung:	n/a
4	chr15:92396240-92396290	GM12878	blood:	n/a
5	chr15:92396247-92396297	HRE	kidney:	n/a
6	chr15:92396247-92396297	A549	lung:	n/a
7	chr15:92396247-92396297	HCPEpiC	choroid plexus:	n/a
8	chr15:92396247-92396297	SKMC	muscle:	n/a
9	chr15:92396247-92396297	Caco-2	colon:	n/a
10	chr15:92396247-92396297	AG09319	gingival:	n/a
11	chr15:92396247-92396297	IMR90	lung:	fetal
12	chr15:92396240-92396290	T-47D	breast:	n/a
13	chr15:92396240-92396290	H1-hESC	embryonic stem cell:	embryo
14	chr15:92396247-92396297	SK-N-SH_RA	brain:	n/a
15	chr15:92396247-92396297	SK-N-MC	brain:	n/a
16	chr15:92396247-92396297	GM06990	blood:	n/a
17	chr15:92396240-92396290	NB4	blood:	n/a
18	chr15:92396240-92396290	HRCEpiC	kidney:	n/a
19	chr15:92396247-92396297	MCF10A-Er-Src	breast:	n/a
20	chr15:92396247-92396297	PANC-1	pancreas:	n/a
21	chr15:92396240-92396290	HepG2	liver:	n/a
22	chr15:92396247-92396297	HCT-116	colon:	n/a
23	chr15:92396240-92396290	BJ	skin:	n/a
24	chr15:92396247-92396297	AG04449	skin:	fetal
25	chr15:92396247-92396297	K562	blood:	n/a
26	chr15:92396247-92396297	SAEC	small airway:	n/a
27	chr15:92396240-92396290	SK-N-SH_RA	brain:	n/a
28	chr15:92396247-92396297	NT2-D1	testis:	n/a
29	chr15:92396240-92396290	HUVEC	blood vessel:	n/a
30	chr15:92396247-92396297	BE2_C	brain:	n/a
31	chr15:92396240-92396290	NHBE	bronchial:	n/a
32	chr15:92396240-92396290	HNPCEpiC	eye:	n/a
33	chr15:92396247-92396297	MCF-7	breast:	n/a
34	chr15:92396247-92396297	Jurkat	blood:	n/a
35	chr15:92396240-92396290	HCF	heart:	n/a
36	chr15:92396240-92396290	Hepatocyte	liver:	n/a
37	chr15:92396240-92396290	HCT-116	colon:	n/a
38	chr15:92396240-92396290	Jurkat	blood:	n/a
39	chr15:92396247-92396297	HMEC	breast:	n/a
40	chr15:92396247-92396297	GM19239	blood:	n/a
41	chr15:92396247-92396297	T-47D	breast:	n/a
42	chr15:92396240-92396290	RPTEC	kidney:	n/a
43	chr15:92396240-92396290	AG04449	skin:	fetal
44	chr15:92396247-92396297	AG09309	skin:	n/a
45	chr15:92396247-92396297	NHDF-neo	bronchial:	n/a
46	chr15:92396247-92396297	Hepatocyte	liver:	n/a
47	chr15:92396240-92396290	MCF-7	breast:	n/a
48	chr15:92396247-92396297	HCM	heart:	n/a
49	chr15:92396247-92396297	CMK	blood:	n/a
50	chr15:92396240-92396290	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:92222380..92223278-chr15:92395614..92396568,3	MCF-7	breast:
2	chr15:92396062..92396645-chr15:92497373..92497996,2	MCF-7	breast:
3	chr15:92395755..92396420-chr15:92525431..92526312,2	MCF-7	breast:
4	chr15:92395627..92396664-chr15:92620274..92621236,6	MCF-7	breast:
5	chr15:92223200..92223831-chr15:92396151..92396845,2	MCF-7	breast:
6	chr15:92065622..92066569-chr15:92395720..92396658,6	MCF-7	breast:

Variant related genes	Relation type
SLCO3A1	TF binding region
SLCO3A1	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11852976	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11858120	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11858157	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12907294	0.87[EUR][1000 genomes]
rs28504271	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28517863	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28534923	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4075845	0.96[EUR][1000 genomes]
rs7162027	0.96[EUR][1000 genomes]
rs7172169	0.89[EUR][1000 genomes]
rs7173207	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7179294	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048635	chr15:92073294-92557339	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv870094	chr15:92367354-92631647	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3324058	chr15:92395773-92398821	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3363259	chr15:92395873-92398346	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr15:92394800-92396400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
2	chr15:92395200-92396400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr15:92395200-92396400	Flanking Active TSS	Colonic Mucosa	Colon
4	chr15:92395200-92396400	Enhancers	Fetal Brain Male	brain
5	chr15:92395200-92396400	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr15:92395200-92397600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr15:92395400-92396400	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr15:92395400-92396400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr15:92395400-92396400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
10	chr15:92395400-92396400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr15:92395400-92396600	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr15:92395600-92396400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr15:92395600-92396400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr15:92395600-92396400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:92395600-92396400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
16	chr15:92395600-92396600	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr15:92395600-92396800	Flanking Active TSS	Liver	Liver
18	chr15:92395600-92397600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:92395600-92398000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr15:92395600-92398000	Active TSS	HSMMtube	muscle
21	chr15:92395600-92398400	Active TSS	Left Ventricle	heart
22	chr15:92395600-92398400	Active TSS	NHLF	lung
23	chr15:92395600-92398600	Active TSS	Aorta	Aorta
24	chr15:92395800-92396400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr15:92395800-92396400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr15:92395800-92396400	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr15:92395800-92396400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
28	chr15:92395800-92396400	Active TSS	Fetal Kidney	kidney
29	chr15:92395800-92396400	Flanking Bivalent TSS/Enh	Placenta	Placenta
30	chr15:92395800-92396400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
31	chr15:92395800-92396400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
32	chr15:92395800-92396400	Flanking Active TSS	Lung	lung
33	chr15:92395800-92396600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr15:92395800-92396800	Flanking Bivalent TSS/Enh	Thymus	Thymus
35	chr15:92395800-92396800	Active TSS	K562	blood
36	chr15:92395800-92397000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr15:92395800-92397200	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr15:92395800-92397400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr15:92395800-92397600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr15:92395800-92397600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:92395800-92397600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr15:92395800-92397600	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr15:92395800-92397800	Active TSS	Psoas Muscle	Psoas
44	chr15:92395800-92398000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:92395800-92398000	Active TSS	H9 Cell Line	embryonic stem cell
46	chr15:92395800-92398000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr15:92395800-92398800	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr15:92396000-92396400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
49	chr15:92396000-92396400	Active TSS	Fetal Heart	heart
50	chr15:92396000-92396400	Bivalent/Poised TSS	Fetal Intestine Large	intestine

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