Variant report

Variant	rs555798890
Chromosome Location	chr15:40763228-40763229
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:137)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:137 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr15:40762753-40763288	K562	blood:	n/a	chr15:40763055-40763066
2	POLR2A	chr15:40762819-40764132	GM19099	blood:	n/a	n/a
3	EGR1	chr15:40762923-40763309	ECC-1	luminal epithelium:	n/a	chr15:40763166-40763180 chr15:40763136-40763150 chr15:40763119-40763133
4	GABPA	chr15:40762965-40763293	HepG2	liver:	n/a	n/a
5	YY1	chr15:40762790-40763947	HepG2	liver:	n/a	chr15:40763383-40763397 chr15:40763242-40763256
6	POLR2A	chr15:40762860-40764157	HUVEC	blood vessel:	n/a	n/a
7	ELF1	chr15:40762813-40763241	HepG2	liver:	n/a	chr15:40763055-40763066
8	MAX	chr15:40762397-40764353	HepG2	liver:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
9	POLR2A	chr15:40762822-40763306	HUVEC	blood vessel:	n/a	n/a
10	ZBTB7A	chr15:40762793-40763294	K562	blood:	n/a	n/a
11	ZBTB7A	chr15:40762423-40764538	ECC-1	luminal epithelium:	n/a	n/a
12	CEBPD	chr15:40762892-40763277	HepG2	liver:	n/a	n/a
13	POLR2A	chr15:40762156-40764091	GM12892	blood:	n/a	n/a
14	MAX	chr15:40762524-40763308	K562	blood:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
15	FOXP2	chr15:40763118-40763315	PFSK-1	brain:	n/a	n/a
16	ELF1	chr15:40762799-40763275	SK-N-SH	brain:	n/a	chr15:40763055-40763066
17	POLR2A	chr15:40762275-40763451	MCF-7	breast:	n/a	n/a
18	POLR2A	chr15:40763103-40763372	Hela-S3	cervix:	n/a	n/a
19	TAF1	chr15:40763039-40763287	GM12878	blood:	n/a	n/a
20	BCL3	chr15:40762984-40763346	GM12878	blood:	n/a	chr15:40763244-40763257 chr15:40763176-40763189 chr15:40763166-40763179
21	POLR2A	chr15:40762785-40763300	HepG2	liver:	n/a	n/a
22	GABPA	chr15:40762936-40763351	MCF-7	breast:	n/a	n/a
23	CREB1	chr15:40762950-40763308	A549	lung:	n/a	n/a
24	POLR2A	chr15:40762787-40763650	A549	lung:	n/a	n/a
25	IRF1	chr15:40762910-40763260	K562	blood:	n/a	chr15:40762937-40762946
26	POLR2A	chr15:40762124-40764649	HepG2	liver:	n/a	n/a
27	E2F6	chr15:40762791-40763316	K562	blood:	n/a	n/a
28	POLR2A	chr15:40763031-40763318	HCT-116	colon:	n/a	n/a
29	POLR2A	chr15:40762868-40764182	GM18526	blood:	n/a	n/a
30	POLR2A	chr15:40762815-40764611	MCF-7	breast:	n/a	n/a
31	POLR2A	chr15:40762817-40763441	Hela-S3	cervix:	n/a	n/a
32	CCNT2	chr15:40762681-40763928	K562	blood:	n/a	chr15:40763395-40763404
33	MAZ	chr15:40762777-40763399	Hela-S3	cervix:	n/a	chr15:40763164-40763174
34	EGR1	chr15:40762988-40763290	GM12878	blood:	n/a	chr15:40763166-40763180 chr15:40763136-40763150 chr15:40763119-40763133
35	POLR2A	chr15:40762658-40764624	ECC-1	luminal epithelium:	n/a	n/a
36	ELF1	chr15:40762475-40763241	HepG2	liver:	n/a	chr15:40763055-40763066
37	POLR2A	chr15:40762787-40764137	Gliobla	brain:	n/a	n/a
38	GABPA	chr15:40763055-40763279	HepG2	liver:	n/a	n/a
39	YY1	chr15:40762973-40763285	K562	blood:	n/a	chr15:40763242-40763256
40	GABPA	chr15:40763029-40763265	K562	blood:	n/a	n/a
41	POLR2A	chr15:40762645-40763296	GM12878	blood:	n/a	n/a
42	ZNF143	chr15:40762992-40763230	GM12878	blood:	n/a	n/a
43	E2F6	chr15:40762647-40763287	K562	blood:	n/a	n/a
44	POLR2A	chr15:40762116-40764390	K562	blood:	n/a	n/a
45	MAX	chr15:40762214-40763305	K562	blood:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
46	HDAC2	chr15:40762922-40763249	K562	blood:	n/a	n/a
47	ELF1	chr15:40762553-40763283	K562	blood:	n/a	chr15:40763055-40763066
48	TAF1	chr15:40762959-40763267	K562	blood:	n/a	n/a
49	MAX	chr15:40762529-40764286	NB4	blood:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
50	POLR2A	chr15:40763113-40763312	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:40763199-40763249	RPTEC	kidney:	n/a
2	chr15:40763199-40763249	AG10803	skin:	n/a
3	chr15:40763199-40763249	GM19239	blood:	n/a
4	chr15:40763199-40763249	AG04449	skin:	fetal
5	chr15:40763199-40763249	GM06990	blood:	n/a
6	chr15:40763199-40763249	MCF10A-Er-Src	breast:	n/a
7	chr15:40763199-40763249	PrEC	prostate:	n/a
8	chr15:40763199-40763249	HEK293	kidney:	embryo
9	chr15:40763199-40763249	NHBE	bronchial:	n/a
10	chr15:40763199-40763249	PANC-1	pancreas:	n/a
11	chr15:40763199-40763249	U87	brain:	n/a
12	chr15:40763199-40763249	K562	blood:	n/a
13	chr15:40763199-40763249	NHDF-neo	bronchial:	n/a
14	chr15:40763199-40763249	AG09319	gingival:	n/a
15	chr15:40763199-40763249	BE2_C	brain:	n/a
16	chr15:40763199-40763249	AoSMC	blood vessel:	n/a
17	chr15:40763199-40763249	SK-N-MC	brain:	n/a
18	chr15:40763199-40763249	HAEpiC	amniotic membrane:	n/a
19	chr15:40763199-40763249	HMEC	breast:	n/a
20	chr15:40763199-40763249	A549	lung:	n/a
21	chr15:40763199-40763249	SK-N-SH	brain:	n/a
22	chr15:40763199-40763249	CMK	blood:	n/a
23	chr15:40763199-40763249	IMR90	lung:	fetal
24	chr15:40763199-40763249	NT2-D1	testis:	n/a
25	chr15:40763199-40763249	HRCEpiC	kidney:	n/a
26	chr15:40763199-40763249	NH-A	brain:	n/a
27	chr15:40763199-40763249	Caco-2	colon:	n/a
28	chr15:40763199-40763249	PFSK-1	brain:	n/a
29	chr15:40763199-40763249	H1-hESC	embryonic stem cell:	embryo
30	chr15:40763199-40763249	Hepatocyte	liver:	n/a
31	chr15:40763199-40763249	AG04450	lung:	fetal
32	chr15:40763199-40763249	GM12891	blood:	n/a
33	chr15:40763199-40763249	HEEpiC	esophagus:	n/a
34	chr15:40763199-40763249	HL-60	blood:	n/a
35	chr15:40763199-40763249	LNCaP	prostate:	n/a
36	chr15:40763199-40763249	HNPCEpiC	eye:	n/a
37	chr15:40763199-40763249	AG09309	skin:	n/a
38	chr15:40763199-40763249	ovcar-3	ovarian:	n/a
39	chr15:40763199-40763249	T-47D	breast:	n/a
40	chr15:40763199-40763249	ECC-1	luminal epithelium:	n/a
41	chr15:40763199-40763249	SAEC	small airway:	n/a
42	chr15:40763199-40763249	SK-N-SH_RA	brain:	n/a
43	chr15:40763199-40763249	ProgFib	skin:	n/a
44	chr15:40763199-40763249	Hela-S3	cervix:	n/a
45	chr15:40763199-40763249	HIPEpiC	eye:	n/a
46	chr15:40763199-40763249	HUVEC	blood vessel:	n/a
47	chr15:40763199-40763249	HCPEpiC	choroid plexus:	n/a
48	chr15:40763199-40763249	HCM	heart:	n/a
49	chr15:40763199-40763249	HPAEpiC	pulmonary alveolar:	n/a
50	chr15:40763199-40763249	NB4	blood:	n/a

(count:9 , 50 per page) page: 1

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	chr15:40731823..40734826-chr15:40760868..40766207,7	K562	blood:
7	chr15:40761396..40764374-chr15:40800140..40802676,2	K562	blood:
8	chr15:40749483..40752811-chr15:40761476..40764713,3	MCF-7	breast:
9	chr15:40763158..40763829-chr15:66796805..66797653,2	HCT-116	colon:

No data

Variant related genes	Relation type
CHST14	TF binding region
ENSG00000259211	TF binding region
CHST14	CpG island
ENSG00000259211	CpG island
ENSG00000174442	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000259536	Chromatin interaction
ENSG00000259211	Chromatin interaction
ENSG00000259364	Chromatin interaction
ENSG00000140320	Chromatin interaction
ENSG00000174444	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	chr15:40762200-40764400	Active TSS	Fetal Kidney	kidney
4	chr15:40762600-40763800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr15:40762600-40764000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr15:40762600-40764000	Active TSS	Fetal Intestine Large	intestine
7	chr15:40762600-40764200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:40762600-40764200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:40762600-40764200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
10	chr15:40762600-40764200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr15:40762600-40764200	Active TSS	Ovary	ovary
12	chr15:40762600-40764200	Active TSS	Psoas Muscle	Psoas
13	chr15:40762600-40764600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr15:40762600-40764600	Active TSS	Fetal Brain Female	brain
15	chr15:40762800-40763400	Weak transcription	Spleen	Spleen
16	chr15:40762800-40763600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:40762800-40763600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:40762800-40763600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:40762800-40763600	Active TSS	Brain Germinal Matrix	brain
20	chr15:40762800-40763600	Active TSS	Right Atrium	heart
21	chr15:40762800-40763800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:40762800-40763800	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr15:40762800-40763800	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr15:40762800-40763800	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr15:40762800-40763800	Active TSS	Primary monocytes fromperipheralblood	blood
26	chr15:40762800-40763800	Active TSS	Brain Hippocampus Middle	brain
27	chr15:40762800-40763800	Active TSS	Fetal Stomach	stomach
28	chr15:40762800-40763800	Active TSS	Lung	lung
29	chr15:40762800-40763800	Active TSS	Pancreas	Pancrea
30	chr15:40762800-40763800	Active TSS	Placenta Amnion	Placenta Amnion
31	chr15:40762800-40763800	Active TSS	Monocytes-CD14+_RO01746	blood
32	chr15:40762800-40764000	Active TSS	Brain Angular Gyrus	brain
33	chr15:40762800-40764000	Active TSS	Brain Cingulate Gyrus	brain
34	chr15:40762800-40764000	Active TSS	Brain Substantia Nigra	brain
35	chr15:40762800-40764000	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr15:40762800-40764000	Active TSS	Gastric	stomach
37	chr15:40762800-40764000	Active TSS	Left Ventricle	heart
38	chr15:40762800-40764000	Active TSS	Small Intestine	intestine
39	chr15:40762800-40764000	Active TSS	Thymus	Thymus
40	chr15:40762800-40764000	Active TSS	HSMMtube	muscle
41	chr15:40762800-40764000	Active TSS	NHLF	lung
42	chr15:40762800-40764200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr15:40762800-40764200	Active TSS	Aorta	Aorta
44	chr15:40762800-40764200	Active TSS	Brain Anterior Caudate	brain
45	chr15:40762800-40764200	Active TSS	Colon Smooth Muscle	Colon
46	chr15:40762800-40764400	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr15:40762800-40764600	Active TSS	H9 Cell Line	embryonic stem cell
48	chr15:40763000-40763400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr15:40763000-40763400	Active TSS	Stomach Smooth Muscle	stomach
50	chr15:40763000-40763600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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