Variant report

Variant	rs185409383
Chromosome Location	chr15:40763001-40763002
allele	C/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	POLR2A	chr15:40762249-40763049	H1-hESC	embryonic stem cell:	n/a	n/a
2	ELF1	chr15:40762753-40763288	K562	blood:	n/a	chr15:40763055-40763066
3	CTCF	chr15:40762920-40763070	GM12872	blood:	n/a	chr15:40763050-40763063
4	RAD21	chr15:40762903-40763078	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr15:40762819-40764132	GM19099	blood:	n/a	n/a
6	ELF1	chr15:40762852-40763120	A549	lung:	n/a	chr15:40763055-40763066
7	CTCF	chr15:40762920-40763070	Caco-2	colon:	n/a	chr15:40763050-40763063
8	EGR1	chr15:40762923-40763309	ECC-1	luminal epithelium:	n/a	chr15:40763166-40763180 chr15:40763136-40763150 chr15:40763119-40763133
9	GABPA	chr15:40762965-40763293	HepG2	liver:	n/a	n/a
10	YY1	chr15:40762790-40763947	HepG2	liver:	n/a	chr15:40763383-40763397 chr15:40763242-40763256
11	POLR2A	chr15:40762860-40764157	HUVEC	blood vessel:	n/a	n/a
12	ELF1	chr15:40762813-40763241	HepG2	liver:	n/a	chr15:40763055-40763066
13	CTCF	chr15:40762920-40763070	WERI-Rb-1	eye:	n/a	chr15:40763050-40763063
14	MAX	chr15:40762397-40764353	HepG2	liver:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
15	POLR2A	chr15:40762822-40763306	HUVEC	blood vessel:	n/a	n/a
16	ZBTB7A	chr15:40762793-40763294	K562	blood:	n/a	n/a
17	MAX	chr15:40762597-40763219	H1-hESC	embryonic stem cell:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
18	POLR2A	chr15:40762141-40763161	GM12891	blood:	n/a	n/a
19	CTCF	chr15:40762966-40763114	GM12891	blood:	n/a	chr15:40763050-40763063
20	ZBTB7A	chr15:40762423-40764538	ECC-1	luminal epithelium:	n/a	n/a
21	CEBPD	chr15:40762892-40763277	HepG2	liver:	n/a	n/a
22	HEY1	chr15:40762834-40763179	HepG2	liver:	n/a	n/a
23	POLR2A	chr15:40762156-40764091	GM12892	blood:	n/a	n/a
24	MAX	chr15:40762524-40763308	K562	blood:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
25	MAZ	chr15:40762842-40763191	HepG2	liver:	n/a	chr15:40763164-40763174
26	ELF1	chr15:40762799-40763275	SK-N-SH	brain:	n/a	chr15:40763055-40763066
27	GABPA	chr15:40762643-40763052	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr15:40762275-40763451	MCF-7	breast:	n/a	n/a
29	CTCF	chr15:40762920-40763070	GM12874	blood:	n/a	chr15:40763050-40763063
30	BCL3	chr15:40762984-40763346	GM12878	blood:	n/a	chr15:40763244-40763257 chr15:40763176-40763189 chr15:40763166-40763179
31	POLR2A	chr15:40762785-40763300	HepG2	liver:	n/a	n/a
32	CTCF	chr15:40762940-40763090	SK-N-SH_RA	brain:	n/a	chr15:40763050-40763063
33	CTCF	chr15:40762900-40763050	K562	blood:	n/a	n/a
34	POLR2A	chr15:40762146-40763153	GM12892	blood:	n/a	n/a
35	GABPA	chr15:40762936-40763351	MCF-7	breast:	n/a	n/a
36	MTA3	chr15:40762459-40763191	GM12878	blood:	n/a	n/a
37	CTCF	chr15:40762980-40763130	GM12871	blood:	n/a	chr15:40763050-40763063
38	MAX	chr15:40762502-40763210	HepG2	liver:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
39	CTCF	chr15:40762989-40763082	Hela-S3	cervix:	n/a	chr15:40763050-40763063
40	CREB1	chr15:40762950-40763308	A549	lung:	n/a	n/a
41	POLR2A	chr15:40762787-40763650	A549	lung:	n/a	n/a
42	RUNX3	chr15:40762734-40763154	GM12878	blood:	n/a	n/a
43	MAX	chr15:40762752-40763213	Hela-S3	cervix:	n/a	chr15:40763164-40763174
44	IRF1	chr15:40762910-40763260	K562	blood:	n/a	chr15:40762937-40762946
45	MYBL2	chr15:40762684-40763158	HepG2	liver:	n/a	n/a
46	SIN3AK20	chr15:40762622-40763170	H1-hESC	embryonic stem cell:	n/a	n/a
47	UBTF	chr15:40762794-40763158	K562	blood:	n/a	n/a
48	CTCF	chr15:40762966-40763090	K562	blood:	n/a	chr15:40763050-40763063
49	POLR2A	chr15:40762124-40764649	HepG2	liver:	n/a	n/a
50	E2F6	chr15:40762791-40763316	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:40762993-40763043	CMK	blood:	n/a
2	chr15:40762993-40763043	ovcar-3	ovarian:	n/a
3	chr15:40762993-40763043	AG09309	skin:	n/a
4	chr15:40762993-40763043	Hela-S3	cervix:	n/a
5	chr15:40762993-40763043	AG10803	skin:	n/a
6	chr15:40762993-40763043	AG04449	skin:	fetal
7	chr15:40762993-40763043	PANC-1	pancreas:	n/a
8	chr15:40762993-40763043	LNCaP	prostate:	n/a
9	chr15:40762993-40763043	GM12891	blood:	n/a
10	chr15:40762993-40763043	HRE	kidney:	n/a
11	chr15:40762993-40763043	A549	lung:	n/a
12	chr15:40762993-40763043	AG09319	gingival:	n/a
13	chr15:40762993-40763043	IMR90	lung:	fetal
14	chr15:40762993-40763043	PrEC	prostate:	n/a
15	chr15:40762993-40763043	HPAEpiC	pulmonary alveolar:	n/a
16	chr15:40762993-40763043	HMEC	breast:	n/a
17	chr15:40762993-40763043	RPTEC	kidney:	n/a
18	chr15:40762993-40763043	AG04450	lung:	fetal
19	chr15:40762993-40763043	HL-60	blood:	n/a
20	chr15:40762993-40763043	ProgFib	skin:	n/a
21	chr15:40762993-40763043	K562	blood:	n/a
22	chr15:40762993-40763043	MCF-7	breast:	n/a
23	chr15:40762993-40763043	SK-N-SH	brain:	n/a
24	chr15:40762993-40763043	MCF10A-Er-Src	breast:	n/a
25	chr15:40762993-40763043	BJ	skin:	n/a
26	chr15:40762993-40763043	HNPCEpiC	eye:	n/a
27	chr15:40762993-40763043	Caco-2	colon:	n/a
28	chr15:40762993-40763043	HUVEC	blood vessel:	n/a
29	chr15:40762993-40763043	HEEpiC	esophagus:	n/a
30	chr15:40762993-40763043	HAEpiC	amniotic membrane:	n/a
31	chr15:40762993-40763043	GM19239	blood:	n/a
32	chr15:40762993-40763043	SK-N-SH_RA	brain:	n/a
33	chr15:40762993-40763043	SKMC	muscle:	n/a
34	chr15:40762993-40763043	U87	brain:	n/a
35	chr15:40762993-40763043	GM12878	blood:	n/a
36	chr15:40762993-40763043	H1-hESC	embryonic stem cell:	embryo
37	chr15:40762993-40763043	NT2-D1	testis:	n/a
38	chr15:40762993-40763043	ECC-1	luminal epithelium:	n/a
39	chr15:40762993-40763043	NHDF-neo	bronchial:	n/a
40	chr15:40762993-40763043	HRPEpiC	eye:	n/a
41	chr15:40762993-40763043	BE2_C	brain:	n/a
42	chr15:40762993-40763043	HCT-116	colon:	n/a
43	chr15:40762993-40763043	Hepatocyte	liver:	n/a
44	chr15:40762993-40763043	HEK293	kidney:	embryo
45	chr15:40762993-40763043	HCM	heart:	n/a
46	chr15:40762993-40763043	SAEC	small airway:	n/a
47	chr15:40762993-40763043	GM12892	blood:	n/a
48	chr15:40762993-40763043	Jurkat	blood:	n/a
49	chr15:40762993-40763043	NH-A	brain:	n/a
50	chr15:40762993-40763043	HRCEpiC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40731621..40739951-chr15:40753297..40765462,23	K562	blood:
2	chr15:40757114..40759999-chr15:40761935..40763724,3	MCF-7	breast:
3	chr15:40746042..40747567-chr15:40761663..40764195,2	MCF-7	breast:
4	chr15:40761789..40767637-chr15:40797359..40801640,7	K562	blood:
5	chr15:40762952..40763883-chr6:26056601..26057141,2	NB4	blood:
6	chr15:40731794..40734704-chr15:40761511..40763222,2	MCF-7	breast:
7	chr15:40731823..40734826-chr15:40760868..40766207,7	K562	blood:
8	chr15:40761396..40764374-chr15:40800140..40802676,2	K562	blood:
9	chr15:40749483..40752811-chr15:40761476..40764713,3	MCF-7	breast:

Variant related genes	Relation type
CHST14	TF binding region
ENSG00000259211	TF binding region
ENSG00000259211	CpG island
CHST14	CpG island
ENSG00000187837	Chromatin interaction
ENSG00000259536	Chromatin interaction
ENSG00000259364	Chromatin interaction
ENSG00000259211	Chromatin interaction
ENSG00000140320	Chromatin interaction

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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3373294	chr15:40762085-40765033	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv3525241	chr15:40762460-40764458	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	esv3525242	chr15:40762460-40764458	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40759400-40763400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr15:40761600-40763800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:40762200-40763200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:40762200-40764400	Active TSS	Fetal Kidney	kidney
5	chr15:40762600-40763200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:40762600-40763800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr15:40762600-40764000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr15:40762600-40764000	Active TSS	Fetal Intestine Large	intestine
9	chr15:40762600-40764200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr15:40762600-40764200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr15:40762600-40764200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr15:40762600-40764200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr15:40762600-40764200	Active TSS	Ovary	ovary
14	chr15:40762600-40764200	Active TSS	Psoas Muscle	Psoas
15	chr15:40762600-40764600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:40762600-40764600	Active TSS	Fetal Brain Female	brain
17	chr15:40762800-40763200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:40762800-40763400	Weak transcription	Spleen	Spleen
19	chr15:40762800-40763600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr15:40762800-40763600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr15:40762800-40763600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr15:40762800-40763600	Active TSS	Brain Germinal Matrix	brain
23	chr15:40762800-40763600	Active TSS	Right Atrium	heart
24	chr15:40762800-40763800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:40762800-40763800	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr15:40762800-40763800	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr15:40762800-40763800	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr15:40762800-40763800	Active TSS	Primary monocytes fromperipheralblood	blood
29	chr15:40762800-40763800	Active TSS	Brain Hippocampus Middle	brain
30	chr15:40762800-40763800	Active TSS	Fetal Stomach	stomach
31	chr15:40762800-40763800	Active TSS	Lung	lung
32	chr15:40762800-40763800	Active TSS	Pancreas	Pancrea
33	chr15:40762800-40763800	Active TSS	Placenta Amnion	Placenta Amnion
34	chr15:40762800-40763800	Active TSS	Monocytes-CD14+_RO01746	blood
35	chr15:40762800-40764000	Active TSS	Brain Angular Gyrus	brain
36	chr15:40762800-40764000	Active TSS	Brain Cingulate Gyrus	brain
37	chr15:40762800-40764000	Active TSS	Brain Substantia Nigra	brain
38	chr15:40762800-40764000	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr15:40762800-40764000	Active TSS	Gastric	stomach
40	chr15:40762800-40764000	Active TSS	Left Ventricle	heart
41	chr15:40762800-40764000	Active TSS	Small Intestine	intestine
42	chr15:40762800-40764000	Active TSS	Thymus	Thymus
43	chr15:40762800-40764000	Active TSS	HSMMtube	muscle
44	chr15:40762800-40764000	Active TSS	NHLF	lung
45	chr15:40762800-40764200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr15:40762800-40764200	Active TSS	Aorta	Aorta
47	chr15:40762800-40764200	Active TSS	Brain Anterior Caudate	brain
48	chr15:40762800-40764200	Active TSS	Colon Smooth Muscle	Colon
49	chr15:40762800-40764400	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr15:40762800-40764600	Active TSS	H9 Cell Line	embryonic stem cell

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