Variant report

Variant	rs113990339
Chromosome Location	chr15:41852003-41852004
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	MAZ	chr15:41849715-41852326	IMR90	lung:	n/a	n/a
2	HA-E2F1	chr15:41850909-41852029	Hela-S3	cervix:	n/a	chr15:41851864-41851871 chr15:41851864-41851871 chr15:41851863-41851872 chr15:41851864-41851871 chr15:41851863-41851875
3	ZBTB7A	chr15:41850806-41852117	ECC-1	luminal epithelium:	n/a	chr15:41851756-41851764
4	POLR2A	chr15:41851238-41852973	K562	blood:	n/a	n/a
5	SIN3A	chr15:41849836-41852455	H1-hESC	embryonic stem cell:	n/a	chr15:41852090-41852104 chr15:41852327-41852340
6	TCF7L2	chr15:41851973-41852037	Hela-S3	cervix:	n/a	n/a
7	E2F6	chr15:41851108-41852028	K562	blood:	n/a	chr15:41851864-41851871 chr15:41851864-41851871 chr15:41851863-41851872 chr15:41851863-41851871 chr15:41851864-41851871 chr15:41851863-41851875
8	MAZ	chr15:41850641-41852227	Hela-S3	cervix:	n/a	n/a
9	SMARCB1	chr15:41850917-41852367	Hela-S3	cervix:	n/a	n/a
10	SIN3AK20	chr15:41850909-41852015	PANC-1	pancreas:	n/a	n/a
11	MXI1	chr15:41849704-41852502	IMR90	lung:	n/a	chr15:41851314-41851329
12	MXI1	chr15:41849639-41852553	SK-N-SH	brain:	n/a	chr15:41851314-41851329
13	TBP	chr15:41851802-41852024	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr15:41851826-41852434	H1-hESC	embryonic stem cell:	n/a	n/a
15	ZNF263	chr15:41851058-41853318	HEK293-T-REx	kidney:	n/a	chr15:41851388-41851409 chr15:41851348-41851369 chr15:41851896-41851905 chr15:41851160-41851169
16	ZNF263	chr15:41850723-41852379	K562	blood:	n/a	chr15:41851388-41851409 chr15:41851348-41851369 chr15:41851896-41851905 chr15:41851160-41851169
17	MAZ	chr15:41850683-41852047	K562	blood:	n/a	n/a
18	MAX	chr15:41850899-41852279	HepG2	liver:	n/a	n/a
19	HMGN3	chr15:41850933-41852038	K562	blood:	n/a	n/a
20	POLR2A	chr15:41851060-41852011	Hela-S3	cervix:	n/a	n/a
21	E2F6	chr15:41851229-41852102	H1-hESC	embryonic stem cell:	n/a	chr15:41851864-41851871 chr15:41851864-41851871 chr15:41851863-41851872 chr15:41851863-41851871 chr15:41851864-41851871 chr15:41851863-41851875
22	ZBTB7A	chr15:41850720-41852319	ECC-1	luminal epithelium:	n/a	chr15:41851756-41851764
23	E2F4	chr15:41850960-41852009	K562	blood:	n/a	chr15:41851864-41851871 chr15:41851864-41851871 chr15:41851863-41851872 chr15:41851863-41851871 chr15:41851864-41851871 chr15:41851863-41851875

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:41851964-41852014	AG04449	skin:	fetal
2	chr15:41851964-41852014	AG09309	skin:	n/a
3	chr15:41851964-41852014	CMK	blood:	n/a
4	chr15:41851969-41852019	PFSK-1	brain:	n/a
5	chr15:41851969-41852019	A549	lung:	n/a
6	chr15:41851969-41852019	LNCaP	prostate:	n/a
7	chr15:41851969-41852019	H1-hESC	embryonic stem cell:	embryo
8	chr15:41851969-41852019	SK-N-SH_RA	brain:	n/a
9	chr15:41851964-41852014	HCM	heart:	n/a
10	chr15:41851964-41852014	AG09319	gingival:	n/a
11	chr15:41851969-41852019	HRPEpiC	eye:	n/a
12	chr15:41851964-41852014	HCF	heart:	n/a
13	chr15:41851969-41852019	ProgFib	skin:	n/a
14	chr15:41851969-41852019	GM19239	blood:	n/a
15	chr15:41851969-41852019	HCF	heart:	n/a
16	chr15:41851969-41852019	ECC-1	luminal epithelium:	n/a
17	chr15:41851969-41852019	HepG2	liver:	n/a
18	chr15:41851964-41852014	RPTEC	kidney:	n/a
19	chr15:41851969-41852019	GM12891	blood:	n/a
20	chr15:41851969-41852019	HCT-116	colon:	n/a
21	chr15:41851964-41852014	HRPEpiC	eye:	n/a
22	chr15:41851964-41852014	GM06990	blood:	n/a
23	chr15:41851964-41852014	SK-N-MC	brain:	n/a
24	chr15:41851969-41852019	SK-N-SH	brain:	n/a
25	chr15:41851964-41852014	IMR90	lung:	fetal
26	chr15:41851969-41852019	AG10803	skin:	n/a
27	chr15:41851964-41852014	HMEC	breast:	n/a
28	chr15:41851964-41852014	HNPCEpiC	eye:	n/a
29	chr15:41851964-41852014	NHBE	bronchial:	n/a
30	chr15:41851964-41852014	ProgFib	skin:	n/a
31	chr15:41851964-41852014	HepG2	liver:	n/a
32	chr15:41851964-41852014	BE2_C	brain:	n/a
33	chr15:41851969-41852019	Jurkat	blood:	n/a
34	chr15:41851964-41852014	NT2-D1	testis:	n/a
35	chr15:41851964-41852014	MCF-7	breast:	n/a
36	chr15:41851969-41852019	Hela-S3	cervix:	n/a
37	chr15:41851969-41852019	NH-A	brain:	n/a
38	chr15:41851969-41852019	HCM	heart:	n/a
39	chr15:41851969-41852019	AG04449	skin:	fetal
40	chr15:41851964-41852014	ECC-1	luminal epithelium:	n/a
41	chr15:41851969-41852019	GM12878	blood:	n/a
42	chr15:41851964-41852014	PrEC	prostate:	n/a
43	chr15:41851969-41852019	NHBE	bronchial:	n/a
44	chr15:41851969-41852019	CMK	blood:	n/a
45	chr15:41851964-41852014	HUVEC	blood vessel:	n/a
46	chr15:41851964-41852014	HL-60	blood:	n/a
47	chr15:41851964-41852014	HCPEpiC	choroid plexus:	n/a
48	chr15:41851969-41852019	PrEC	prostate:	n/a
49	chr15:41851964-41852014	HRE	kidney:	n/a
50	chr15:41851964-41852014	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:41851361..41854178-chr15:42065182..42067599,2	K562	blood:
2	chr15:41850304..41852496-chr15:41951450..41954168,2	MCF-7	breast:
3	chr15:41851029..41853126-chr15:41899971..41902269,2	K562	blood:
4	chr15:41849860..41852803-chr15:41858013..41860929,2	MCF-7	breast:
5	chr15:41847317..41853712-chr15:41951201..41955578,8	K562	blood:
6	chr15:41835713..41840265-chr15:41851401..41853463,4	K562	blood:
7	chr15:41849459..41853162-chr15:41854225..41857161,4	MCF-7	breast:
8	chr15:41784400..41789772-chr15:41847283..41854059,7	K562	blood:
9	chr15:41849370..41852913-chr15:41951069..41953769,6	K562	blood:
10	chr15:41850576..41853126-chr15:41900769..41903357,2	K562	blood:

Variant related genes	Relation type
TYRO3	TF binding region
TYRO3	CpG island
ENSG00000092445	Chromatin interaction
ENSG00000260926	Chromatin interaction
ENSG00000103932	Chromatin interaction
ENSG00000174197	Chromatin interaction
ENSG00000137825	Chromatin interaction
ENSG00000137802	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3379660	chr15:41850410-41852608	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	esv3311131	chr15:41851466-41853360	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3311132	chr15:41851466-41853360	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	6 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	chr15:41850000-41852200	Enhancers	Liver	Liver
2	chr15:41850000-41853000	Enhancers	Fetal Heart	heart
3	chr15:41850200-41852200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:41850200-41852600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr15:41850200-41852600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:41850200-41853200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:41850400-41852200	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr15:41850600-41852200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr15:41850600-41852200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:41850600-41852200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:41850600-41852200	Active TSS	Aorta	Aorta
12	chr15:41850600-41852200	Active TSS	Fetal Brain Female	brain
13	chr15:41850600-41852200	Active TSS	Psoas Muscle	Psoas
14	chr15:41850600-41852400	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr15:41850600-41852600	Active TSS	Brain Angular Gyrus	brain
16	chr15:41850800-41852200	Active TSS	H1 Cell Line	embryonic stem cell
17	chr15:41850800-41852200	Active TSS	Brain Anterior Caudate	brain
18	chr15:41850800-41852200	Active TSS	Ovary	ovary
19	chr15:41850800-41852200	Active TSS	HSMMtube	muscle
20	chr15:41850800-41852200	Active TSS	NHDF-Ad	bronchial
21	chr15:41850800-41852200	Active TSS	NHLF	lung
22	chr15:41850800-41852400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr15:41850800-41852400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:41850800-41852400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:41850800-41852400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr15:41850800-41852400	Active TSS	Brain Substantia Nigra	brain
27	chr15:41850800-41852400	Active TSS	A549	lung
28	chr15:41850800-41852600	Active TSS	H9 Cell Line	embryonic stem cell
29	chr15:41850800-41852600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:41850800-41853000	Active TSS	Fetal Kidney	kidney
31	chr15:41851000-41852200	Active TSS	Fetal Intestine Small	intestine
32	chr15:41851000-41852200	Active TSS	Gastric	stomach
33	chr15:41851000-41852200	Active TSS	Left Ventricle	heart
34	chr15:41851000-41852400	Active TSS	Rectal Smooth Muscle	rectum
35	chr15:41851000-41852400	Active TSS	HSMM	muscle
36	chr15:41851200-41852400	Active TSS	Right Atrium	heart
37	chr15:41851400-41852200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
38	chr15:41851400-41852200	Flanking Bivalent TSS/Enh	Thymus	Thymus
39	chr15:41851400-41852400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr15:41851600-41852200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
41	chr15:41851600-41852200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
42	chr15:41851600-41852400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
43	chr15:41851600-41852400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr15:41851600-41852400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
45	chr15:41851800-41852200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr15:41851800-41852200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr15:41851800-41852200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
48	chr15:41851800-41852200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
49	chr15:41851800-41852200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr15:41851800-41852200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood

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