Variant report

Variant	rs531329762
Chromosome Location	chr15:92396112-92396113
allele	C/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	CTCF	chr15:92396040-92396190	Caco-2	colon:	n/a	n/a
2	CTCF	chr15:92395980-92396130	WERI-Rb-1	eye:	n/a	n/a
3	MAX	chr15:92395781-92397743	A549	lung:	n/a	chr15:92397690-92397706 chr15:92397580-92397590
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	CTCF	chr15:92396060-92396210	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr15:92396040-92396190	BE2_C	brain:	n/a	n/a
9	CTCF	chr15:92395927-92396240	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr15:92396040-92396190	NHDF-neo	bronchial:	n/a	n/a
11	ELK1	chr15:92395686-92396390	Hela-S3	cervix:	n/a	n/a
12	SIN3A	chr15:92395781-92396778	H1-hESC	embryonic stem cell:	n/a	chr15:92396217-92396230 chr15:92396104-92396113 chr15:92396013-92396024
13	CTCF	chr15:92396100-92396250	GM12864	blood:	n/a	n/a
14	CTCF	chr15:92395406-92397813	SK-N-SH	brain:	n/a	chr15:92396518-92396534 chr15:92396517-92396535 chr15:92395772-92395785 chr15:92396239-92396252
15	CTCF	chr15:92396060-92396210	HPF	lung:	n/a	n/a
16	POLR2A	chr15:92395220-92397694	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr15:92396040-92396190	GM12868	blood:	n/a	n/a
18	CTCF	chr15:92396060-92396210	SAEC	small airway:	n/a	n/a
19	CTCF	chr15:92396020-92396298	GM10248	blood:	n/a	chr15:92396239-92396252
20	CTCF	chr15:92395980-92396130	NHEK	skin:	n/a	n/a
21	POLR2A	chr15:92395572-92396688	IMR90	lung:	n/a	n/a
22	CTCF	chr15:92396040-92396190	HAc	cerebellar:	n/a	n/a
23	CTCF	chr15:92395825-92396778	GM12878	blood:	n/a	chr15:92396518-92396534 chr15:92396517-92396535 chr15:92396239-92396252
24	RAD21	chr15:92395903-92396262	HepG2	liver:	n/a	chr15:92395983-92395993 chr15:92396009-92396023
25	CTCF	chr15:92396007-92396307	Hela-S3	cervix:	n/a	chr15:92396239-92396252
26	CTCF	chr15:92396040-92396190	GM12878	blood:	n/a	n/a
27	CTCF	chr15:92396000-92396150	AG04449	skin:	n/a	n/a
28	CTCF	chr15:92396000-92396150	HVMF	connective:	n/a	n/a
29	CTCF	chr15:92396060-92396210	GM12864	blood:	n/a	n/a
30	CTCF	chr15:92396040-92396190	SK-N-SH_RA	brain:	n/a	n/a
31	ZNF143	chr15:92395821-92396699	Hela-S3	cervix:	n/a	chr15:92396533-92396543
32	SMC3	chr15:92395934-92396595	GM12878	blood:	n/a	chr15:92395983-92395993 chr15:92396519-92396533
33	MYC	chr15:92395800-92396661	K562	blood:	n/a	n/a
34	CTCF	chr15:92396040-92396190	HMF	breast:	n/a	n/a
35	CTCF	chr15:92395905-92396206	HepG2	liver:	n/a	n/a
36	TBP	chr15:92395888-92396120	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr15:92396040-92396190	SAEC	small airway:	n/a	n/a
38	CTCF	chr15:92396020-92396170	HCM	heart:	n/a	n/a
39	CTCF	chr15:92395958-92396677	Gliobla	brain:	n/a	chr15:92396518-92396534 chr15:92396517-92396535 chr15:92396239-92396252
40	CTCF	chr15:92396020-92396170	NHDF-neo	bronchial:	n/a	n/a
41	UBTF	chr15:92395858-92397105	K562	blood:	n/a	n/a
42	CTBP2	chr15:92395807-92396639	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr15:92395957-92399695	Raji	blood:	n/a	n/a
44	CTCF	chr15:92396040-92396190	AG04450	lung:	n/a	n/a
45	POLR2A	chr15:92395889-92397569	A549	lung:	n/a	n/a
46	RAD21	chr15:92395762-92396678	A549	lung:	n/a	chr15:92396515-92396534 chr15:92395983-92395993 chr15:92396524-92396533 chr15:92396009-92396023
47	MAZ	chr15:92395442-92397945	IMR90	lung:	n/a	chr15:92397690-92397706 chr15:92397580-92397590
48	E2F6	chr15:92395849-92396761	A549	lung:	n/a	chr15:92396338-92396349 chr15:92396542-92396554 chr15:92396333-92396347 chr15:92396339-92396349
49	CTCF	chr15:92396060-92396210	GM12865	blood:	n/a	n/a
50	CTCF	chr15:92395980-92396130	HRE	kidney:	n/a	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	chr15:92065622..92066569-chr15:92395720..92396658,6	MCF-7	breast:

Variant related genes	Relation type
SLCO3A1	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	chr15:92395000-92396200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr15:92395200-92396200	Enhancers	Small Intestine	intestine
4	chr15:92395200-92396400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:92395200-92396400	Flanking Active TSS	Colonic Mucosa	Colon
6	chr15:92395200-92396400	Enhancers	Fetal Brain Male	brain
7	chr15:92395200-92396400	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr15:92395200-92397600	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr15:92395400-92396200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr15:92395400-92396200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr15:92395400-92396200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr15:92395400-92396200	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr15:92395400-92396200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr15:92395400-92396200	Flanking Active TSS	HMEC	breast
15	chr15:92395400-92396400	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr15:92395400-92396400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr15:92395400-92396400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
18	chr15:92395400-92396400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr15:92395400-92396600	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr15:92395600-92396200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr15:92395600-92396200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr15:92395600-92396200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr15:92395600-92396200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:92395600-92396200	Flanking Active TSS	Fetal Brain Female	brain
25	chr15:92395600-92396400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr15:92395600-92396400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr15:92395600-92396400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr15:92395600-92396400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
29	chr15:92395600-92396600	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr15:92395600-92396800	Flanking Active TSS	Liver	Liver
31	chr15:92395600-92397600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr15:92395600-92398000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:92395600-92398000	Active TSS	HSMMtube	muscle
34	chr15:92395600-92398400	Active TSS	Left Ventricle	heart
35	chr15:92395600-92398400	Active TSS	NHLF	lung
36	chr15:92395600-92398600	Active TSS	Aorta	Aorta
37	chr15:92395800-92396200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr15:92395800-92396200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:92395800-92396200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr15:92395800-92396200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr15:92395800-92396200	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr15:92395800-92396400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr15:92395800-92396400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr15:92395800-92396400	Flanking Active TSS	Brain Germinal Matrix	brain
45	chr15:92395800-92396400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr15:92395800-92396400	Active TSS	Fetal Kidney	kidney
47	chr15:92395800-92396400	Flanking Bivalent TSS/Enh	Placenta	Placenta
48	chr15:92395800-92396400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
49	chr15:92395800-92396400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
50	chr15:92395800-92396400	Flanking Active TSS	Lung	lung

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