Variant report

Variant	rs539390704
Chromosome Location	chr4:150999066-150999067
allele	A/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	MXI1	chr4:150998899-151001409	IMR90	lung:	n/a	n/a
2	TCF7L2	chr4:150999049-150999735	PANC-1	pancreas:	n/a	chr4:150999231-150999241
3	SIN3A	chr4:150998911-150999667	H1-hESC	embryonic stem cell:	n/a	n/a
4	PBX3	chr4:150999055-150999835	SK-N-SH	brain:	n/a	n/a
5	RCOR1	chr4:150998921-151002713	IMR90	lung:	n/a	n/a
6	MAZ	chr4:150998696-151000849	IMR90	lung:	n/a	chr4:150999909-150999918 chr4:150999998-151000008
7	POLR2A	chr4:150998925-151000206	U87	brain:	n/a	n/a
8	TEAD4	chr4:150999050-150999906	SK-N-SH	brain:	n/a	n/a
9	MAX	chr4:150999065-150999654	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr4:150999057-150999666	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr4:150998923-151000091	SK-N-SH	brain:	n/a	n/a
12	RAD21	chr4:150999066-151000756	IMR90	lung:	n/a	n/a
13	TAF1	chr4:150998965-150999681	H1-neurons	neurons:	n/a	n/a
14	E2F6	chr4:150998996-150999521	A549	lung:	n/a	chr4:150999330-150999339 chr4:150999371-150999380 chr4:150999306-150999316 chr4:150999369-150999378
15	POLR2A	chr4:150999050-150999648	PFSK-1	brain:	n/a	n/a
16	NFIC	chr4:150998885-151000619	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr4:150999030-150999395	ECC-1	luminal epithelium:	n/a	n/a
18	MAX	chr4:150998982-151000790	A549	lung:	n/a	chr4:150999909-150999918 chr4:150999998-151000008
19	MAX	chr4:150999049-151000088	SK-N-SH	brain:	n/a	chr4:150999909-150999918 chr4:150999998-151000008
20	EGR1	chr4:150999048-151000360	HCT-116	colon:	n/a	chr4:150999535-150999546 chr4:150999901-150999914 chr4:150999902-150999916 chr4:150999371-150999380 chr4:150999536-150999546 chr4:150999901-150999914 chr4:150999903-150999913 chr4:151000046-151000059 chr4:150999534-150999548 chr4:150999329-150999339 chr4:150999536-150999546 chr4:150999903-150999913 chr4:150999900-150999915 chr4:150999887-150999901 chr4:150999904-150999913 chr4:150999902-150999913 chr4:150999535-150999546 chr4:150999901-150999914 chr4:150999901-150999915
21	MAX	chr4:150999043-151000176	SK-N-SH	brain:	n/a	chr4:150999909-150999918 chr4:150999998-151000008
22	POLR2A	chr4:150998990-151000084	U87	brain:	n/a	n/a
23	TAF1	chr4:150999049-150999577	H1-neurons	neurons:	n/a	n/a
24	POLR2A	chr4:150998970-151000812	H1-neurons	neurons:	n/a	n/a
25	REST	chr4:150998686-151001103	H1-neurons	neurons:	n/a	chr4:150999721-150999734 chr4:151000038-151000056 chr4:151000742-151000755
26	POLR2A	chr4:150998907-151000689	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr4:150999038-151000134	HUVEC	blood vessel:	n/a	n/a
28	TCF7L2	chr4:150999031-151000680	Hela-S3	cervix:	n/a	chr4:150999231-150999241
29	CEBPB	chr4:150999039-150999353	Hela-S3	cervix:	n/a	n/a
30	EGR1	chr4:150999044-151000336	HCT-116	colon:	n/a	chr4:150999535-150999546 chr4:150999901-150999914 chr4:150999902-150999916 chr4:150999371-150999380 chr4:150999536-150999546 chr4:150999901-150999914 chr4:150999903-150999913 chr4:151000046-151000059 chr4:150999534-150999548 chr4:150999329-150999339 chr4:150999536-150999546 chr4:150999903-150999913 chr4:150999900-150999915 chr4:150999887-150999901 chr4:150999904-150999913 chr4:150999902-150999913 chr4:150999535-150999546 chr4:150999901-150999914 chr4:150999901-150999915
31	POLR2A	chr4:150998965-151000850	H1-neurons	neurons:	n/a	n/a
32	POLR2A	chr4:150999023-151000132	HUVEC	blood vessel:	n/a	n/a
33	MAX	chr4:150999012-151000156	A549	lung:	n/a	chr4:150999909-150999918 chr4:150999998-151000008
34	GTF2F1	chr4:150999027-150999237	Hela-S3	cervix:	n/a	n/a
35	NRF1	chr4:150999049-150999756	SK-N-SH	brain:	n/a	chr4:150999330-150999339 chr4:150999367-150999381
36	ZNF263	chr4:150998554-151000713	HEK293-T-REx	kidney:	n/a	chr4:150999749-150999758
37	TCF7L2	chr4:150999047-151000075	HCT-116	colon:	n/a	chr4:150999231-150999241
38	NFIC	chr4:150998989-150999739	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr4:150999058-150999305	SK-N-SH	brain:	n/a	n/a
40	MEF2A	chr4:150999006-150999668	SK-N-SH	brain:	n/a	n/a
41	PBX3	chr4:150999063-151000155	SK-N-SH	brain:	n/a	n/a
42	HA-E2F1	chr4:150998991-151000827	MCF-7	breast:	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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:150999042-150999092	IMR90	lung:	fetal
2	chr4:150999042-150999092	Jurkat	blood:	n/a
3	chr4:150999042-150999092	Hela-S3	cervix:	n/a
4	chr4:150999042-150999092	HCF	heart:	n/a
5	chr4:150999042-150999092	HCPEpiC	choroid plexus:	n/a
6	chr4:150999042-150999092	T-47D	breast:	n/a
7	chr4:150999042-150999092	HUVEC	blood vessel:	n/a
8	chr4:150999042-150999092	NT2-D1	testis:	n/a
9	chr4:150999042-150999092	A549	lung:	n/a
10	chr4:150999042-150999092	RPTEC	kidney:	n/a
11	chr4:150999042-150999092	SK-N-SH_RA	brain:	n/a
12	chr4:150999042-150999092	BE2_C	brain:	n/a
13	chr4:150999042-150999092	AoSMC	blood vessel:	n/a
14	chr4:150999042-150999092	AG04450	lung:	fetal
15	chr4:150999042-150999092	HNPCEpiC	eye:	n/a
16	chr4:150999042-150999092	ovcar-3	ovarian:	n/a
17	chr4:150999042-150999092	NHBE	bronchial:	n/a
18	chr4:150999042-150999092	LNCaP	prostate:	n/a
19	chr4:150999042-150999092	K562	blood:	n/a
20	chr4:150999042-150999092	PFSK-1	brain:	n/a
21	chr4:150999042-150999092	GM12892	blood:	n/a
22	chr4:150999042-150999092	U87	brain:	n/a
23	chr4:150999042-150999092	GM12878	blood:	n/a
24	chr4:150999042-150999092	HPAEpiC	pulmonary alveolar:	n/a
25	chr4:150999042-150999092	ECC-1	luminal epithelium:	n/a
26	chr4:150999042-150999092	HCT-116	colon:	n/a
27	chr4:150999042-150999092	GM19239	blood:	n/a
28	chr4:150999042-150999092	NH-A	brain:	n/a
29	chr4:150999042-150999092	ProgFib	skin:	n/a
30	chr4:150999042-150999092	HEK293	kidney:	embryo
31	chr4:150999042-150999092	AG10803	skin:	n/a
32	chr4:150999042-150999092	BJ	skin:	n/a
33	chr4:150999042-150999092	HRCEpiC	kidney:	n/a
34	chr4:150999042-150999092	CMK	blood:	n/a
35	chr4:150999042-150999092	Hepatocyte	liver:	n/a
36	chr4:150999042-150999092	HAEpiC	amniotic membrane:	n/a
37	chr4:150999042-150999092	SK-N-SH	brain:	n/a
38	chr4:150999042-150999092	SAEC	small airway:	n/a
39	chr4:150999042-150999092	SK-N-MC	brain:	n/a
40	chr4:150999042-150999092	HRE	kidney:	n/a
41	chr4:150999042-150999092	AG04449	skin:	fetal
42	chr4:150999042-150999092	HIPEpiC	eye:	n/a
43	chr4:150999042-150999092	GM12891	blood:	n/a
44	chr4:150999042-150999092	Caco-2	colon:	n/a
45	chr4:150999042-150999092	HepG2	liver:	n/a
46	chr4:150999042-150999092	HCM	heart:	n/a
47	chr4:150999042-150999092	H1-hESC	embryonic stem cell:	embryo
48	chr4:150999042-150999092	AG09309	skin:	n/a
49	chr4:150999042-150999092	AG09319	gingival:	n/a
50	chr4:150999042-150999092	NHDF-neo	bronchial:	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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:150998400-150999200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:150998400-150999400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:150998400-151000400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:150998400-151001800	Active TSS	Fetal Kidney	kidney
5	chr4:150998400-151002400	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr4:150998600-150999200	Flanking Active TSS	Fetal Brain Male	brain
7	chr4:150998600-150999200	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr4:150998600-151000400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
9	chr4:150998600-151002600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:150998800-150999200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:150998800-150999200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:150998800-150999200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr4:150998800-150999200	Flanking Active TSS	Fetal Heart	heart
14	chr4:150998800-150999200	Flanking Active TSS	Fetal Muscle Leg	muscle
15	chr4:150998800-150999200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr4:150998800-150999200	Flanking Active TSS	HUVEC	blood vessel
17	chr4:150998800-150999400	Enhancers	Primary B cells from peripheral blood	blood
18	chr4:150998800-150999400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:150998800-150999400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:150998800-150999400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
21	chr4:150998800-150999400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
22	chr4:150998800-150999400	Flanking Active TSS	NH-A	brain
23	chr4:150998800-150999600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
24	chr4:150998800-150999800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:150998800-151000000	Active TSS	Fetal Muscle Trunk	muscle
26	chr4:150998800-151000200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:150998800-151000200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
28	chr4:150998800-151000400	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr4:150998800-151000600	Active TSS	Fetal Lung	lung
30	chr4:150998800-151000800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr4:150998800-151000800	Active TSS	Right Ventricle	heart
32	chr4:150998800-151000800	Active TSS	Osteobl	bone
33	chr4:150998800-151001000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
34	chr4:150998800-151001000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr4:150998800-151001000	Active TSS	Ovary	ovary
36	chr4:150998800-151001000	Active TSS	NHDF-Ad	bronchial
37	chr4:150998800-151001200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
38	chr4:150998800-151001200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr4:150998800-151001200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
40	chr4:150998800-151001200	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr4:150998800-151001200	Active TSS	Right Atrium	heart
42	chr4:150998800-151001400	Active TSS	NHLF	lung
43	chr4:150998800-151001600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:150998800-151001600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:150998800-151002200	Active TSS	Brain Substantia Nigra	brain
46	chr4:150998800-151002600	Active TSS	Brain Angular Gyrus	brain
47	chr4:150998800-151002600	Active TSS	Brain Anterior Caudate	brain
48	chr4:150999000-150999200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:150999000-150999200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
50	chr4:150999000-150999200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood

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