Variant report

Variant	rs530247781
Chromosome Location	chr15:92397560-92397561
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	MAX	chr15:92395781-92397743	A549	lung:	n/a	chr15:92397690-92397706 chr15:92397580-92397590
2	CTCF	chr15:92397440-92397590	GM12865	blood:	n/a	n/a
3	CTCF	chr15:92395406-92397813	SK-N-SH	brain:	n/a	chr15:92396518-92396534 chr15:92396517-92396535 chr15:92395772-92395785 chr15:92396239-92396252
4	CTCF	chr15:92397420-92397570	HA-sp	spinal cord:	n/a	n/a
5	MYC	chr15:92397291-92397888	MCF10A-Er-Src	breast:	n/a	chr15:92397690-92397706 chr15:92397580-92397590
6	POLR2A	chr15:92395220-92397694	Hela-S3	cervix:	n/a	n/a
7	TBP	chr15:92397325-92397573	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr15:92397282-92397636	SK-N-SH_RA	brain:	n/a	chr15:92397397-92397411 chr15:92397406-92397416
9	CTCF	chr15:92397480-92397630	BJ	skin:	n/a	n/a
10	POLR2A	chr15:92395957-92399695	Raji	blood:	n/a	n/a
11	POLR2A	chr15:92395889-92397569	A549	lung:	n/a	n/a
12	RAD21	chr15:92397220-92397628	H1-hESC	embryonic stem cell:	n/a	chr15:92397397-92397411 chr15:92397406-92397416
13	SMC3	chr15:92397275-92397669	Hela-S3	cervix:	n/a	n/a
14	MAZ	chr15:92395442-92397945	IMR90	lung:	n/a	chr15:92397690-92397706 chr15:92397580-92397590
15	CTCF	chr15:92397385-92397574	Fibrobl	skin:	n/a	n/a
16	CTCF	chr15:92397440-92397590	HRPEpiC	eye:	n/a	n/a
17	CTCF	chr15:92397420-92397570	RPTEC	kidney:	n/a	n/a
18	REST	chr15:92395535-92398158	H1-neurons	neurons:	n/a	chr15:92395779-92395787 chr15:92397470-92397483 chr15:92397024-92397037 chr15:92397472-92397482
19	MAX	chr15:92396880-92397660	MCF-7	breast:	n/a	chr15:92397580-92397590
20	SMARCB1	chr15:92395842-92397972	Hela-S3	cervix:	n/a	n/a
21	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
22	SMC3	chr15:92395135-92398691	SK-N-SH	brain:	n/a	chr15:92395983-92395993 chr15:92396519-92396533
23	CTCF	chr15:92397363-92397587	MCF-7	breast:	n/a	n/a
24	MAX	chr15:92396974-92397678	H1-hESC	embryonic stem cell:	n/a	chr15:92397580-92397590
25	POLR2A	chr15:92395743-92397699	HL-60	blood:	n/a	n/a
26	RCOR1	chr15:92396905-92397578	Hela-S3	cervix:	n/a	n/a
27	HA-E2F1	chr15:92396206-92397633	Hela-S3	cervix:	n/a	chr15:92397093-92397100 chr15:92396338-92396349 chr15:92397093-92397100 chr15:92397093-92397100 chr15:92396542-92396554 chr15:92397582-92397591 chr15:92396333-92396347 chr15:92396339-92396349
28	CTCF	chr15:92397420-92397570	GM12866	blood:	n/a	n/a
29	POLR2A	chr15:92397263-92397787	MCF10A-Er-Src	breast:	n/a	n/a
30	RAD21	chr15:92397228-92397617	IMR90	lung:	n/a	chr15:92397397-92397411 chr15:92397406-92397416
31	POLR2A	chr15:92396175-92398046	H1-neurons	neurons:	n/a	n/a
32	CTCF	chr15:92397369-92397561	MCF-7	breast:	n/a	n/a
33	MAX	chr15:92395823-92397708	Hela-S3	cervix:	n/a	chr15:92397690-92397706 chr15:92397580-92397590
34	CTCF	chr15:92397500-92397650	HMEC	breast:	n/a	n/a
35	CTCF	chr15:92397308-92397581	IMR90	lung:	n/a	n/a
36	CTCF	chr15:92397358-92397577	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr15:92397381-92397576	MCF-7	breast:	n/a	n/a
38	MAZ	chr15:92395754-92397651	Hela-S3	cervix:	n/a	chr15:92397580-92397590
39	CHD2	chr15:92395859-92397574	Hela-S3	cervix:	n/a	chr15:92397086-92397096 chr15:92396541-92396551
40	MAX	chr15:92395662-92397889	A549	lung:	n/a	chr15:92397690-92397706 chr15:92397580-92397590
41	MAX	chr15:92395825-92398471	NB4	blood:	n/a	chr15:92397690-92397706 chr15:92398140-92398149 chr15:92397580-92397590
42	SIN3AK20	chr15:92396333-92397579	PANC-1	pancreas:	n/a	n/a
43	CTCF	chr15:92397341-92397571	GM12878	blood:	n/a	n/a
44	CTCF	chr15:92397241-92397582	H1-hESC	embryonic stem cell:	n/a	n/a
45	PAX5	chr15:92397272-92397562	GM12878	blood:	n/a	chr15:92397409-92397427

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:92397541-92397591	HRE	kidney:	n/a
2	chr15:92397541-92397591	NH-A	brain:	n/a
3	chr15:92397541-92397591	HEK293	kidney:	embryo
4	chr15:92397541-92397591	Hepatocyte	liver:	n/a
5	chr15:92397541-92397591	GM12892	blood:	n/a
6	chr15:92397541-92397591	CMK	blood:	n/a
7	chr15:92397541-92397591	HCT-116	colon:	n/a
8	chr15:92397541-92397591	T-47D	breast:	n/a
9	chr15:92397541-92397591	H1-hESC	embryonic stem cell:	embryo
10	chr15:92397541-92397591	NB4	blood:	n/a
11	chr15:92397541-92397591	GM12891	blood:	n/a
12	chr15:92397541-92397591	K562	blood:	n/a
13	chr15:92397541-92397591	HCPEpiC	choroid plexus:	n/a
14	chr15:92397541-92397591	HIPEpiC	eye:	n/a
15	chr15:92397541-92397591	HCF	heart:	n/a
16	chr15:92397541-92397591	PFSK-1	brain:	n/a
17	chr15:92397541-92397591	LNCaP	prostate:	n/a
18	chr15:92397541-92397591	AG09309	skin:	n/a
19	chr15:92397541-92397591	RPTEC	kidney:	n/a
20	chr15:92397541-92397591	PANC-1	pancreas:	n/a
21	chr15:92397541-92397591	HCM	heart:	n/a
22	chr15:92397541-92397591	A549	lung:	n/a
23	chr15:92397541-92397591	HEEpiC	esophagus:	n/a
24	chr15:92397541-92397591	AG10803	skin:	n/a
25	chr15:92397541-92397591	ovcar-3	ovarian:	n/a
26	chr15:92397541-92397591	ProgFib	skin:	n/a
27	chr15:92397541-92397591	HRPEpiC	eye:	n/a
28	chr15:92397541-92397591	MCF10A-Er-Src	breast:	n/a
29	chr15:92397541-92397591	U87	brain:	n/a
30	chr15:92397541-92397591	ECC-1	luminal epithelium:	n/a
31	chr15:92397541-92397591	HUVEC	blood vessel:	n/a
32	chr15:92397541-92397591	SKMC	muscle:	n/a
33	chr15:92397541-92397591	AG04450	lung:	fetal
34	chr15:92397541-92397591	NHDF-neo	bronchial:	n/a
35	chr15:92397541-92397591	HRCEpiC	kidney:	n/a
36	chr15:92397541-92397591	GM06990	blood:	n/a
37	chr15:92397541-92397591	Jurkat	blood:	n/a
38	chr15:92397541-92397591	AG04449	skin:	fetal
39	chr15:92397541-92397591	BE2_C	brain:	n/a
40	chr15:92397541-92397591	HMEC	breast:	n/a
41	chr15:92397541-92397591	AG09319	gingival:	n/a
42	chr15:92397541-92397591	HepG2	liver:	n/a
43	chr15:92397541-92397591	SAEC	small airway:	n/a
44	chr15:92397541-92397591	PrEC	prostate:	n/a
45	chr15:92397541-92397591	MCF-7	breast:	n/a
46	chr15:92397541-92397591	SK-N-SH	brain:	n/a
47	chr15:92397541-92397591	HNPCEpiC	eye:	n/a
48	chr15:92397541-92397591	HAEpiC	amniotic membrane:	n/a
49	chr15:92397541-92397591	NHBE	bronchial:	n/a
50	chr15:92397541-92397591	GM19239	blood:	n/a

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

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv534110	chr15:92397220-92592961	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 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	chr15:92395600-92397600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr15:92395600-92398000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:92395600-92398000	Active TSS	HSMMtube	muscle
5	chr15:92395600-92398400	Active TSS	Left Ventricle	heart
6	chr15:92395600-92398400	Active TSS	NHLF	lung
7	chr15:92395600-92398600	Active TSS	Aorta	Aorta
8	chr15:92395800-92397600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr15:92395800-92397600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:92395800-92397600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:92395800-92397600	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr15:92395800-92397800	Active TSS	Psoas Muscle	Psoas
13	chr15:92395800-92398000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:92395800-92398000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr15:92395800-92398000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:92395800-92398800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr15:92396000-92397600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr15:92396000-92397600	Active TSS	Primary monocytes fromperipheralblood	blood
19	chr15:92396000-92397600	Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr15:92396000-92397600	Active TSS	Osteobl	bone
21	chr15:92396000-92397800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr15:92396000-92397800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr15:92396000-92397800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:92396000-92397800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:92396000-92397800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr15:92396000-92397800	Active TSS	Muscle Satellite Cultured Cells	--
27	chr15:92396000-92397800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:92396000-92397800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr15:92396000-92397800	Active TSS	Colon Smooth Muscle	Colon
30	chr15:92396000-92397800	Active TSS	Hela-S3	cervix
31	chr15:92396000-92397800	Active TSS	Monocytes-CD14+_RO01746	blood
32	chr15:92396000-92397800	Active TSS	NHEK	skin
33	chr15:92396000-92398000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr15:92396000-92398000	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr15:92396000-92398000	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr15:92396000-92398000	Active TSS	A549	lung
37	chr15:92396000-92398000	Active TSS	HSMM	muscle
38	chr15:92396000-92398200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:92396000-92398200	Active TSS	Esophagus	oesophagus
40	chr15:92396000-92398200	Active TSS	Spleen	Spleen
41	chr15:92396000-92398200	Active TSS	NHDF-Ad	bronchial
42	chr15:92396000-92398400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:92396000-92398400	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr15:92396000-92398800	Active TSS	Rectal Smooth Muscle	rectum
45	chr15:92396000-92399200	Active TSS	Brain Cingulate Gyrus	brain
46	chr15:92396000-92399200	Active TSS	Ovary	ovary
47	chr15:92396000-92399200	Active TSS	Right Ventricle	heart
48	chr15:92396000-92399400	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr15:92396000-92399400	Active TSS	Brain Substantia Nigra	brain
50	chr15:92396000-92399400	Active TSS	Right Atrium	heart

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