Variant report

Variant	rs562035515
Chromosome Location	chr4:150999494-150999495
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	POLR2A	chr4:150999432-150999657	Hela-S3	cervix:	n/a	n/a
3	MXI1	chr4:150998899-151001409	IMR90	lung:	n/a	n/a
4	MAZ	chr4:150999121-151000706	Hela-S3	cervix:	n/a	chr4:150999909-150999918 chr4:150999998-151000008
5	SIN3AK20	chr4:150999080-151000152	SK-N-SH	brain:	n/a	n/a
6	CTCF	chr4:150999460-150999610	AoAF	blood vessel:	n/a	n/a
7	MAX	chr4:150999462-150999596	A549	lung:	n/a	n/a
8	TCF7L2	chr4:150999049-150999735	PANC-1	pancreas:	n/a	chr4:150999231-150999241
9	MAX	chr4:150999099-151000789	ECC-1	luminal epithelium:	n/a	chr4:150999909-150999918 chr4:150999998-151000008
10	SIN3A	chr4:150998911-150999667	H1-hESC	embryonic stem cell:	n/a	n/a
11	EGR1	chr4:150999357-150999612	K562	blood:	n/a	chr4:150999535-150999546 chr4:150999371-150999380 chr4:150999536-150999546 chr4:150999534-150999548 chr4:150999536-150999546 chr4:150999535-150999546
12	SIN3AK20	chr4:150999323-150999590	SK-N-SH	brain:	n/a	n/a
13	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
14	TEAD4	chr4:150999109-151000135	ECC-1	luminal epithelium:	n/a	n/a
15	TAF1	chr4:150999077-150999660	SK-N-SH	brain:	n/a	n/a
16	FOXP2	chr4:150999216-150999660	PFSK-1	brain:	n/a	n/a
17	PBX3	chr4:150999055-150999835	SK-N-SH	brain:	n/a	n/a
18	NR3C1	chr4:150999131-150999709	A549	lung:	n/a	n/a
19	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
20	POLR2A	chr4:150999131-151000043	ProgFib	skin:	n/a	n/a
21	MAX	chr4:150999103-151000718	Hela-S3	cervix:	n/a	chr4:150999909-150999918 chr4:150999998-151000008
22	CTCF	chr4:150999480-150999630	HCPEpiC	choroid plexus:	n/a	n/a
23	POLR2A	chr4:150999317-150999866	SK-N-SH	brain:	n/a	n/a
24	CTCF	chr4:150999440-150999590	SK-N-SH_RA	brain:	n/a	n/a
25	RCOR1	chr4:150998921-151002713	IMR90	lung:	n/a	n/a
26	RAD21	chr4:150999348-150999517	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAZ	chr4:150998696-151000849	IMR90	lung:	n/a	chr4:150999909-150999918 chr4:150999998-151000008
28	NFIC	chr4:150999213-151000389	ECC-1	luminal epithelium:	n/a	n/a
29	ZBTB7A	chr4:150999147-150999654	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr4:150999125-151000168	A549	lung:	n/a	n/a
31	POLR2A	chr4:150999418-151000173	MCF-7	breast:	n/a	n/a
32	POLR2A	chr4:150998925-151000206	U87	brain:	n/a	n/a
33	EGR1	chr4:150999295-151000159	ECC-1	luminal epithelium:	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
34	TEAD4	chr4:150999050-150999906	SK-N-SH	brain:	n/a	n/a
35	MAX	chr4:150999065-150999654	ECC-1	luminal epithelium:	n/a	n/a
36	YY1	chr4:150999083-150999669	SK-N-SH_RA	brain:	n/a	chr4:150999330-150999344
37	TAF1	chr4:150999311-150999521	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr4:150999208-150999513	HCT-116	colon:	n/a	n/a
39	EGR1	chr4:150999287-151000237	ECC-1	luminal epithelium:	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
40	POLR2A	chr4:150999057-150999666	PANC-1	pancreas:	n/a	n/a
41	POLR2A	chr4:150999253-151000134	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr4:150998923-151000091	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr4:150999232-151000055	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr4:150999181-151000699	Gliobla	brain:	n/a	n/a
45	POLR2A	chr4:150999110-151000592	A549	lung:	n/a	n/a
46	RAD21	chr4:150999066-151000756	IMR90	lung:	n/a	n/a
47	TAF1	chr4:150998965-150999681	H1-neurons	neurons:	n/a	n/a
48	E2F6	chr4:150998996-150999521	A549	lung:	n/a	chr4:150999330-150999339 chr4:150999371-150999380 chr4:150999306-150999316 chr4:150999369-150999378
49	CTCF	chr4:150999460-150999610	AG04449	skin:	n/a	n/a
50	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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42758633..42759495-chr4:150999375..150999897,2	Hela-S3	cervix:

Variant related genes	Relation type
DCLK2	TF binding region
ENSG00000105722	Chromatin interaction
ENSG00000268643	Chromatin interaction

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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:150998400-151000400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:150998400-151001800	Active TSS	Fetal Kidney	kidney
3	chr4:150998400-151002400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr4:150998600-151000400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
5	chr4:150998600-151002600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:150998800-150999600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
7	chr4:150998800-150999800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:150998800-151000000	Active TSS	Fetal Muscle Trunk	muscle
9	chr4:150998800-151000200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:150998800-151000200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
11	chr4:150998800-151000400	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr4:150998800-151000600	Active TSS	Fetal Lung	lung
13	chr4:150998800-151000800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr4:150998800-151000800	Active TSS	Right Ventricle	heart
15	chr4:150998800-151000800	Active TSS	Osteobl	bone
16	chr4:150998800-151001000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr4:150998800-151001000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr4:150998800-151001000	Active TSS	Ovary	ovary
19	chr4:150998800-151001000	Active TSS	NHDF-Ad	bronchial
20	chr4:150998800-151001200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr4:150998800-151001200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr4:150998800-151001200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
23	chr4:150998800-151001200	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr4:150998800-151001200	Active TSS	Right Atrium	heart
25	chr4:150998800-151001400	Active TSS	NHLF	lung
26	chr4:150998800-151001600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:150998800-151001600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:150998800-151002200	Active TSS	Brain Substantia Nigra	brain
29	chr4:150998800-151002600	Active TSS	Brain Angular Gyrus	brain
30	chr4:150998800-151002600	Active TSS	Brain Anterior Caudate	brain
31	chr4:150999000-150999600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:150999000-150999800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr4:150999000-150999800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:150999000-150999800	Active TSS	Brain Germinal Matrix	brain
35	chr4:150999000-150999800	Active TSS	Colonic Mucosa	Colon
36	chr4:150999000-151000000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:150999000-151000000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:150999000-151000000	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:150999000-151000000	Active TSS	Fetal Stomach	stomach
40	chr4:150999000-151000000	Bivalent/Poised TSS	NHEK	skin
41	chr4:150999000-151000200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
42	chr4:150999000-151000400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:150999000-151000400	Active TSS	Pancreas	Pancrea
44	chr4:150999000-151000600	Active TSS	H9 Cell Line	embryonic stem cell
45	chr4:150999000-151000600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:150999000-151000600	Active TSS	Muscle Satellite Cultured Cells	--
47	chr4:150999000-151000600	Active TSS	Left Ventricle	heart
48	chr4:150999000-151000800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:150999000-151000800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
50	chr4:150999000-151000800	Active TSS	Breast Myoepithelial Primary Cells	Breast

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