Variant report

Variant	rs530938261
Chromosome Location	chr15:92396527-92396528
allele	A/T
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	chr15:92396500-92396650	Caco-2	colon:	n/a	chr15:92396518-92396534 chr15:92396517-92396535
2	CTCF	chr15:92396460-92396610	WERI-Rb-1	eye:	n/a	chr15:92396518-92396534 chr15:92396517-92396535
3	POLR2A	chr15:92396214-92397322	H1-neurons	neurons:	n/a	n/a
4	MAX	chr15:92395781-92397743	A549	lung:	n/a	chr15:92397690-92397706 chr15:92397580-92397590
5	CTCF	chr15:92396460-92396610	SAEC	small airway:	n/a	chr15:92396518-92396534 chr15:92396517-92396535
6	CTCF	chr15:92396480-92396630	GM12874	blood:	n/a	chr15:92396518-92396534 chr15:92396517-92396535
7	CTCFL	chr15:92396338-92396612	K562	blood:	n/a	n/a
8	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
9	CTCF	chr15:92396460-92396610	K562	blood:	n/a	chr15:92396518-92396534 chr15:92396517-92396535
10	EP300	chr15:92395820-92396580	GM12878	blood:	n/a	chr15:92396434-92396450 chr15:92396547-92396563 chr15:92396037-92396053 chr15:92396162-92396176
11	REST	chr15:92395914-92396553	A549	lung:	n/a	n/a
12	CTCF	chr15:92396448-92396618	HepG2	liver:	n/a	chr15:92396518-92396534 chr15:92396517-92396535
13	SIN3A	chr15:92395781-92396778	H1-hESC	embryonic stem cell:	n/a	chr15:92396217-92396230 chr15:92396104-92396113 chr15:92396013-92396024
14	CTCF	chr15:92396460-92396610	HVMF	connective:	n/a	chr15:92396518-92396534 chr15:92396517-92396535
15	CTCF	chr15:92396500-92396650	HRE	kidney:	n/a	chr15:92396518-92396534 chr15:92396517-92396535
16	CTCF	chr15:92395406-92397813	SK-N-SH	brain:	n/a	chr15:92396518-92396534 chr15:92396517-92396535 chr15:92395772-92395785 chr15:92396239-92396252
17	CREB1	chr15:92396335-92397212	A549	lung:	n/a	n/a
18	POLR2A	chr15:92395220-92397694	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr15:92396397-92396673	GM19238	blood:	n/a	chr15:92396518-92396534 chr15:92396517-92396535
20	POLR2A	chr15:92395572-92396688	IMR90	lung:	n/a	n/a
21	EGR1	chr15:92396360-92396553	K562	blood:	n/a	chr15:92396447-92396460 chr15:92396537-92396547
22	CTCF	chr15:92395825-92396778	GM12878	blood:	n/a	chr15:92396518-92396534 chr15:92396517-92396535 chr15:92396239-92396252
23	CTCF	chr15:92396440-92396590	HCPEpiC	choroid plexus:	n/a	chr15:92396518-92396534 chr15:92396517-92396535
24	CTCF	chr15:92396522-92396530	LNCaP	prostate:	n/a	n/a
25	MYC	chr15:92396148-92396691	MCF10A-Er-Src	breast:	n/a	n/a
26	CTCF	chr15:92396361-92396585	ECC-1	luminal epithelium:	n/a	chr15:92396518-92396534 chr15:92396517-92396535
27	EP300	chr15:92396470-92396647	K562	blood:	n/a	chr15:92396547-92396563
28	TAF1	chr15:92396192-92396697	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr15:92396460-92396610	BE2_C	brain:	n/a	chr15:92396518-92396534 chr15:92396517-92396535
30	ZNF143	chr15:92395821-92396699	Hela-S3	cervix:	n/a	chr15:92396533-92396543
31	CTCF	chr15:92396480-92396630	AoAF	blood vessel:	n/a	chr15:92396518-92396534 chr15:92396517-92396535
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	chr15:92396460-92396610	GM06990	blood:	n/a	chr15:92396518-92396534 chr15:92396517-92396535
35	CTCF	chr15:92396480-92396630	HMF	breast:	n/a	chr15:92396518-92396534 chr15:92396517-92396535
36	CTCF	chr15:92396480-92396630	GM12869	blood:	n/a	chr15:92396518-92396534 chr15:92396517-92396535
37	CTCF	chr15:92396460-92396610	GM12873	blood:	n/a	chr15:92396518-92396534 chr15:92396517-92396535
38	CTCF	chr15:92396340-92396678	SK-N-SH_RA	brain:	n/a	chr15:92396518-92396534 chr15:92396517-92396535
39	CTCF	chr15:92396500-92396650	WERI-Rb-1	eye:	n/a	chr15:92396518-92396534 chr15:92396517-92396535
40	YY1	chr15:92396356-92396601	GM12878	blood:	n/a	chr15:92396536-92396550 chr15:92396535-92396544 chr15:92396530-92396544
41	CTCF	chr15:92395958-92396677	Gliobla	brain:	n/a	chr15:92396518-92396534 chr15:92396517-92396535 chr15:92396239-92396252
42	CTCF	chr15:92396418-92396674	H1-hESC	embryonic stem cell:	n/a	chr15:92396518-92396534 chr15:92396517-92396535
43	CTCF	chr15:92396480-92396630	HEEpiC	esophagus:	n/a	chr15:92396518-92396534 chr15:92396517-92396535
44	UBTF	chr15:92395858-92397105	K562	blood:	n/a	n/a
45	CTBP2	chr15:92395807-92396639	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr15:92395957-92399695	Raji	blood:	n/a	n/a
47	POLR2A	chr15:92395889-92397569	A549	lung:	n/a	n/a
48	RAD21	chr15:92395762-92396678	A549	lung:	n/a	chr15:92396515-92396534 chr15:92395983-92395993 chr15:92396524-92396533 chr15:92396009-92396023
49	MAZ	chr15:92395442-92397945	IMR90	lung:	n/a	chr15:92397690-92397706 chr15:92397580-92397590
50	E2F6	chr15:92395849-92396761	A549	lung:	n/a	chr15:92396338-92396349 chr15:92396542-92396554 chr15:92396333-92396347 chr15:92396339-92396349

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	chr15:92395627..92396664-chr15:92620274..92621236,6	MCF-7	breast:
4	chr15:92223200..92223831-chr15:92396151..92396845,2	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92395200-92397600	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr15:92395400-92396600	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr15:92395600-92396600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr15:92395600-92396800	Flanking Active TSS	Liver	Liver
5	chr15:92395600-92397600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:92395600-92398000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:92395600-92398000	Active TSS	HSMMtube	muscle
8	chr15:92395600-92398400	Active TSS	Left Ventricle	heart
9	chr15:92395600-92398400	Active TSS	NHLF	lung
10	chr15:92395600-92398600	Active TSS	Aorta	Aorta
11	chr15:92395800-92396600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr15:92395800-92396800	Flanking Bivalent TSS/Enh	Thymus	Thymus
13	chr15:92395800-92396800	Active TSS	K562	blood
14	chr15:92395800-92397000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:92395800-92397200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr15:92395800-92397400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:92395800-92397600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr15:92395800-92397600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:92395800-92397600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr15:92395800-92397600	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr15:92395800-92397800	Active TSS	Psoas Muscle	Psoas
22	chr15:92395800-92398000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:92395800-92398000	Active TSS	H9 Cell Line	embryonic stem cell
24	chr15:92395800-92398000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:92395800-92398800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr15:92396000-92396600	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr15:92396000-92396600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr15:92396000-92396600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:92396000-92396600	Active TSS	Stomach Mucosa	stomach
30	chr15:92396000-92397200	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr15:92396000-92397200	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr15:92396000-92397400	Active TSS	H1 Cell Line	embryonic stem cell
33	chr15:92396000-92397400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr15:92396000-92397400	Bivalent/Poised TSS	HepG2	liver
35	chr15:92396000-92397600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:92396000-92397600	Active TSS	Primary monocytes fromperipheralblood	blood
37	chr15:92396000-92397600	Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr15:92396000-92397600	Active TSS	Osteobl	bone
39	chr15:92396000-92397800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr15:92396000-92397800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr15:92396000-92397800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:92396000-92397800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr15:92396000-92397800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr15:92396000-92397800	Active TSS	Muscle Satellite Cultured Cells	--
45	chr15:92396000-92397800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:92396000-92397800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr15:92396000-92397800	Active TSS	Colon Smooth Muscle	Colon
48	chr15:92396000-92397800	Active TSS	Hela-S3	cervix
49	chr15:92396000-92397800	Active TSS	Monocytes-CD14+_RO01746	blood
50	chr15:92396000-92397800	Active TSS	NHEK	skin

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