Variant report

Variant	rs563576595
Chromosome Location	chr4:150999285-150999286
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	HA-E2F1	chr4:150999099-151000755	Hela-S3	cervix:	n/a	chr4:150999559-150999566 chr4:150999330-150999339 chr4:150999559-150999566 chr4:151000611-151000626 chr4:150999371-150999380 chr4:150999306-150999316 chr4:150999559-150999566 chr4:150999369-150999378
2	MXI1	chr4:150998899-151001409	IMR90	lung:	n/a	n/a
3	MAZ	chr4:150999121-151000706	Hela-S3	cervix:	n/a	chr4:150999909-150999918 chr4:150999998-151000008
4	SIN3AK20	chr4:150999080-151000152	SK-N-SH	brain:	n/a	n/a
5	TCF7L2	chr4:150999049-150999735	PANC-1	pancreas:	n/a	chr4:150999231-150999241
6	MAX	chr4:150999099-151000789	ECC-1	luminal epithelium:	n/a	chr4:150999909-150999918 chr4:150999998-151000008
7	SIN3A	chr4:150998911-150999667	H1-hESC	embryonic stem cell:	n/a	n/a
8	EP300	chr4:150999130-151000813	SK-N-SH	brain:	n/a	chr4:150999369-150999378 chr4:151000742-151000758 chr4:151000627-151000643 chr4:150999307-150999323 chr4:151000615-151000631
9	TEAD4	chr4:150999109-151000135	ECC-1	luminal epithelium:	n/a	n/a
10	TAF1	chr4:150999077-150999660	SK-N-SH	brain:	n/a	n/a
11	FOXP2	chr4:150999216-150999660	PFSK-1	brain:	n/a	n/a
12	PBX3	chr4:150999055-150999835	SK-N-SH	brain:	n/a	n/a
13	NR3C1	chr4:150999131-150999709	A549	lung:	n/a	n/a
14	E2F4	chr4:150999275-151000067	MCF10A-Er-Src	breast:	n/a	chr4:150999559-150999566 chr4:150999330-150999339 chr4:150999559-150999566 chr4:150999371-150999380 chr4:150999306-150999316 chr4:150999559-150999566 chr4:150999369-150999378
15	POLR2A	chr4:150999131-151000043	ProgFib	skin:	n/a	n/a
16	MAX	chr4:150999103-151000718	Hela-S3	cervix:	n/a	chr4:150999909-150999918 chr4:150999998-151000008
17	YY1	chr4:150999141-150999371	HCT-116	colon:	n/a	chr4:150999330-150999344
18	ELK1	chr4:150999188-150999360	Hela-S3	cervix:	n/a	n/a
19	RCOR1	chr4:150998921-151002713	IMR90	lung:	n/a	n/a
20	MAZ	chr4:150998696-151000849	IMR90	lung:	n/a	chr4:150999909-150999918 chr4:150999998-151000008
21	NFIC	chr4:150999213-151000389	ECC-1	luminal epithelium:	n/a	n/a
22	ZBTB7A	chr4:150999147-150999654	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr4:150999125-151000168	A549	lung:	n/a	n/a
24	POLR2A	chr4:150998925-151000206	U87	brain:	n/a	n/a
25	TEAD4	chr4:150999050-150999906	SK-N-SH	brain:	n/a	n/a
26	MAX	chr4:150999065-150999654	ECC-1	luminal epithelium:	n/a	n/a
27	YY1	chr4:150999083-150999669	SK-N-SH_RA	brain:	n/a	chr4:150999330-150999344
28	CTCF	chr4:150999180-150999330	SK-N-SH_RA	brain:	n/a	n/a
29	POLR2A	chr4:150999208-150999513	HCT-116	colon:	n/a	n/a
30	NANOG	chr4:150999192-150999408	H1-hESC	embryonic stem cell:	n/a	n/a
31	CREB1	chr4:150999068-150999492	H1-hESC	embryonic stem cell:	n/a	n/a
32	MYC	chr4:150999250-150999292	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr4:150999057-150999666	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr4:150999253-151000134	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr4:150998923-151000091	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr4:150999232-151000055	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr4:150999181-151000699	Gliobla	brain:	n/a	n/a
38	POLR2A	chr4:150999110-151000592	A549	lung:	n/a	n/a
39	RAD21	chr4:150999066-151000756	IMR90	lung:	n/a	n/a
40	TAF1	chr4:150998965-150999681	H1-neurons	neurons:	n/a	n/a
41	E2F6	chr4:150998996-150999521	A549	lung:	n/a	chr4:150999330-150999339 chr4:150999371-150999380 chr4:150999306-150999316 chr4:150999369-150999378
42	EP300	chr4:150999246-151000796	ECC-1	luminal epithelium:	n/a	chr4:150999369-150999378 chr4:151000742-151000758 chr4:151000627-151000643 chr4:150999307-150999323 chr4:151000615-151000631
43	POLR2A	chr4:150999050-150999648	PFSK-1	brain:	n/a	n/a
44	SIN3AK20	chr4:150999207-151000163	PANC-1	pancreas:	n/a	n/a
45	YY1	chr4:150999166-150999364	H1-hESC	embryonic stem cell:	n/a	chr4:150999330-150999344
46	NFIC	chr4:150998885-151000619	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr4:150999030-150999395	ECC-1	luminal epithelium:	n/a	n/a
48	MAX	chr4:150999137-150999675	H1-hESC	embryonic stem cell:	n/a	n/a
49	MAX	chr4:150998982-151000790	A549	lung:	n/a	chr4:150999909-150999918 chr4:150999998-151000008
50	CREB1	chr4:150999115-150999474	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:150999251-150999301	IMR90	lung:	fetal
2	chr4:150999251-150999301	SK-N-MC	brain:	n/a
3	chr4:150999251-150999301	NHDF-neo	bronchial:	n/a
4	chr4:150999251-150999301	GM12892	blood:	n/a
5	chr4:150999251-150999301	AG09319	gingival:	n/a
6	chr4:150999251-150999301	BE2_C	brain:	n/a
7	chr4:150999251-150999301	PANC-1	pancreas:	n/a
8	chr4:150999251-150999301	PFSK-1	brain:	n/a
9	chr4:150999251-150999301	CMK	blood:	n/a
10	chr4:150999251-150999301	PrEC	prostate:	n/a
11	chr4:150999251-150999301	AG04449	skin:	fetal
12	chr4:150999251-150999301	NHBE	bronchial:	n/a
13	chr4:150999251-150999301	HEK293	kidney:	embryo
14	chr4:150999251-150999301	NT2-D1	testis:	n/a
15	chr4:150999251-150999301	Caco-2	colon:	n/a
16	chr4:150999251-150999301	GM06990	blood:	n/a
17	chr4:150999251-150999301	HNPCEpiC	eye:	n/a
18	chr4:150999251-150999301	HRPEpiC	eye:	n/a
19	chr4:150999251-150999301	SK-N-SH	brain:	n/a
20	chr4:150999251-150999301	T-47D	breast:	n/a
21	chr4:150999251-150999301	AG10803	skin:	n/a
22	chr4:150999251-150999301	AG04450	lung:	fetal
23	chr4:150999251-150999301	GM12891	blood:	n/a
24	chr4:150999251-150999301	MCF10A-Er-Src	breast:	n/a
25	chr4:150999251-150999301	Hepatocyte	liver:	n/a
26	chr4:150999251-150999301	GM19239	blood:	n/a
27	chr4:150999251-150999301	Jurkat	blood:	n/a
28	chr4:150999251-150999301	NB4	blood:	n/a
29	chr4:150999251-150999301	HCPEpiC	choroid plexus:	n/a
30	chr4:150999251-150999301	HRE	kidney:	n/a
31	chr4:150999251-150999301	H1-hESC	embryonic stem cell:	embryo
32	chr4:150999251-150999301	ECC-1	luminal epithelium:	n/a
33	chr4:150999251-150999301	HAEpiC	amniotic membrane:	n/a
34	chr4:150999251-150999301	AoSMC	blood vessel:	n/a
35	chr4:150999251-150999301	HCM	heart:	n/a
36	chr4:150999251-150999301	SKMC	muscle:	n/a
37	chr4:150999251-150999301	AG09309	skin:	n/a
38	chr4:150999251-150999301	ProgFib	skin:	n/a
39	chr4:150999251-150999301	HRCEpiC	kidney:	n/a
40	chr4:150999251-150999301	HCT-116	colon:	n/a
41	chr4:150999251-150999301	HMEC	breast:	n/a
42	chr4:150999251-150999301	A549	lung:	n/a
43	chr4:150999251-150999301	Hela-S3	cervix:	n/a
44	chr4:150999251-150999301	SK-N-SH_RA	brain:	n/a
45	chr4:150999251-150999301	HepG2	liver:	n/a
46	chr4:150999251-150999301	HUVEC	blood vessel:	n/a
47	chr4:150999251-150999301	HPAEpiC	pulmonary alveolar:	n/a
48	chr4:150999251-150999301	MCF-7	breast:	n/a
49	chr4:150999251-150999301	BJ	skin:	n/a
50	chr4:150999251-150999301	GM12878	blood:	n/a

Variant related genes	Relation type
DCLK2	TF binding region
DCLK2	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026797	chr4:150246932-151217137	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv830111	chr4:150867357-151035556	Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv530158	chr4:150877557-151040992	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3325727	chr4:150998027-151001275	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
8	esv3379698	chr4:150998652-151001000	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:150998400-150999400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:150998400-151000400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:150998400-151001800	Active TSS	Fetal Kidney	kidney
4	chr4:150998400-151002400	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr4:150998600-151000400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
6	chr4:150998600-151002600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:150998800-150999400	Enhancers	Primary B cells from peripheral blood	blood
8	chr4:150998800-150999400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:150998800-150999400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:150998800-150999400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
11	chr4:150998800-150999400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
12	chr4:150998800-150999400	Flanking Active TSS	NH-A	brain
13	chr4:150998800-150999600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
14	chr4:150998800-150999800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:150998800-151000000	Active TSS	Fetal Muscle Trunk	muscle
16	chr4:150998800-151000200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:150998800-151000200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
18	chr4:150998800-151000400	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr4:150998800-151000600	Active TSS	Fetal Lung	lung
20	chr4:150998800-151000800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr4:150998800-151000800	Active TSS	Right Ventricle	heart
22	chr4:150998800-151000800	Active TSS	Osteobl	bone
23	chr4:150998800-151001000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr4:150998800-151001000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr4:150998800-151001000	Active TSS	Ovary	ovary
26	chr4:150998800-151001000	Active TSS	NHDF-Ad	bronchial
27	chr4:150998800-151001200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr4:150998800-151001200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr4:150998800-151001200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
30	chr4:150998800-151001200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr4:150998800-151001200	Active TSS	Right Atrium	heart
32	chr4:150998800-151001400	Active TSS	NHLF	lung
33	chr4:150998800-151001600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:150998800-151001600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:150998800-151002200	Active TSS	Brain Substantia Nigra	brain
36	chr4:150998800-151002600	Active TSS	Brain Angular Gyrus	brain
37	chr4:150998800-151002600	Active TSS	Brain Anterior Caudate	brain
38	chr4:150999000-150999400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
39	chr4:150999000-150999400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
40	chr4:150999000-150999400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:150999000-150999400	Flanking Active TSS	Liver	Liver
42	chr4:150999000-150999400	Flanking Active TSS	Placenta	Placenta
43	chr4:150999000-150999400	Bivalent/Poised TSS	Thymus	Thymus
44	chr4:150999000-150999600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:150999000-150999800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr4:150999000-150999800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:150999000-150999800	Active TSS	Brain Germinal Matrix	brain
48	chr4:150999000-150999800	Active TSS	Colonic Mucosa	Colon
49	chr4:150999000-151000000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:150999000-151000000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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