Variant report

Variant	esv3357582
Chromosome Location	chr4:526002-528800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:366)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr4:526473-526525	HepG2	liver:	n/a	n/a
2	CTCF	chr4:528400-528550	GM12873	blood:	n/a	n/a
3	MYC	chr4:527509-527583	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr4:526161-526414	K562	blood:	n/a	n/a
5	POLR2A	chr4:527266-527573	GM12878	blood:	n/a	n/a
6	POLR2A	chr4:526231-526262	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr4:527420-527577	MCF-7	breast:	n/a	n/a
8	POLR2A	chr4:528760-528880	K562	blood:	n/a	n/a
9	POLR2A	chr4:528276-528445	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr4:526517-526925	K562	blood:	n/a	n/a
11	POLR2A	chr4:527561-527567	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr4:528781-528795	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr4:528437-528446	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr4:526705-526970	K562	blood:	n/a	n/a
15	POLR2A	chr4:527861-529061	K562	blood:	n/a	n/a
16	POLR2A	chr4:526355-526741	HepG2	liver:	n/a	n/a
17	POLR2A	chr4:525925-526411	K562	blood:	n/a	n/a
18	POLR2A	chr4:526448-527856	K562	blood:	n/a	n/a
19	POLR2A	chr4:526550-526751	K562	blood:	n/a	n/a
20	POLR2A	chr4:527312-527433	K562	blood:	n/a	n/a
21	POLR2A	chr4:526479-526491	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr4:526140-526268	K562	blood:	n/a	n/a
23	POLR2A	chr4:527160-527416	K562	blood:	n/a	n/a
24	POLR2A	chr4:526640-526690	K562	blood:	n/a	n/a
25	POLR2A	chr4:526899-527152	Hela-S3	cervix:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:528175-528225	PrEC	prostate:	n/a
2	chr4:527125-527175	BJ	skin:	n/a
3	chr4:528576-528626	AG09319	gingival:	n/a
4	chr4:527125-527175	HAEpiC	amniotic membrane:	n/a
5	chr4:528022-528072	NT2-D1	testis:	n/a
6	chr4:527766-527816	SK-N-MC	brain:	n/a
7	chr4:528022-528072	NB4	blood:	n/a
8	chr4:527125-527175	HIPEpiC	eye:	n/a
9	chr4:528022-528072	GM19239	blood:	n/a
10	chr4:528022-528072	GM12878	blood:	n/a
11	chr4:528576-528626	MCF10A-Er-Src	breast:	n/a
12	chr4:527766-527816	AG04449	skin:	fetal
13	chr4:527125-527175	NHDF-neo	bronchial:	n/a
14	chr4:528497-528547	GM12878	blood:	n/a
15	chr4:528022-528072	NHDF-neo	bronchial:	n/a
16	chr4:528022-528072	U87	brain:	n/a
17	chr4:527766-527816	ovcar-3	ovarian:	n/a
18	chr4:528576-528626	HCF	heart:	n/a
19	chr4:528497-528547	T-47D	breast:	n/a
20	chr4:527766-527816	NT2-D1	testis:	n/a
21	chr4:528497-528547	Hepatocyte	liver:	n/a
22	chr4:528175-528225	H1-hESC	embryonic stem cell:	embryo
23	chr4:528175-528225	NHDF-neo	bronchial:	n/a
24	chr4:527766-527816	HL-60	blood:	n/a
25	chr4:528022-528072	AG04450	lung:	fetal
26	chr4:528497-528547	A549	lung:	n/a
27	chr4:527766-527816	NH-A	brain:	n/a
28	chr4:528175-528225	AG04450	lung:	fetal
29	chr4:527766-527816	U87	brain:	n/a
30	chr4:527766-527816	LNCaP	prostate:	n/a
31	chr4:527766-527816	MCF-7	breast:	n/a
32	chr4:528175-528225	ovcar-3	ovarian:	n/a
33	chr4:528175-528225	HCT-116	colon:	n/a
34	chr4:527766-527816	GM19239	blood:	n/a
35	chr4:528022-528072	ECC-1	luminal epithelium:	n/a
36	chr4:527766-527816	GM12892	blood:	n/a
37	chr4:528175-528225	ECC-1	luminal epithelium:	n/a
38	chr4:528175-528225	U87	brain:	n/a
39	chr4:528576-528626	Hela-S3	cervix:	n/a
40	chr4:527125-527175	Jurkat	blood:	n/a
41	chr4:528175-528225	AoSMC	blood vessel:	n/a
42	chr4:528497-528547	HRPEpiC	eye:	n/a
43	chr4:528576-528626	SK-N-MC	brain:	n/a
44	chr4:527766-527816	PFSK-1	brain:	n/a
45	chr4:528022-528072	K562	blood:	n/a
46	chr4:527766-527816	AoSMC	blood vessel:	n/a
47	chr4:527125-527175	HCM	heart:	n/a
48	chr4:528497-528547	NB4	blood:	n/a
49	chr4:527766-527816	NHDF-neo	bronchial:	n/a
50	chr4:528497-528547	RPTEC	kidney:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:525421..528276-chr4:528569..530910,3	K562	blood:
2	chr4:518047..520174-chr4:523827..527051,3	K562	blood:
3	chr4:525421..528276-chr4:528569..530910,3	K562	blood:
4	chr4:515315..517143-chr4:524895..527185,2	K562	blood:
5	chr4:492039..494429-chr4:524066..526166,2	MCF-7	breast:
6	chr4:526650..530036-chr4:530929..534159,4	K562	blood:
7	chr4:527516..530204-chr4:530528..533344,2	MCF-7	breast:

No data

Variant related genes	Relation type
PIGG	TF binding region
PIGG	CpG island
ENSG00000174227	chromatin interactions
ENSG00000182903	chromatin interactions

Extended variants
information (count: 163 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536417457	chr4:526017-526018	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs554744137	chr4:526025-526026	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs576286713	chr4:526098-526099	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs181037434	chr4:526126-526127	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs13141560	chr4:526145-526146	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs34327839	chr4:526169-526170	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs564022760	chr4:526172-526173	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs376013411	chr4:526185-526186	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs35629431	chr4:526217-526218	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs549746581	chr4:526237-526238	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs34584074	chr4:526279-526280	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs535490516	chr4:526300-526301	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs73072173	chr4:526306-526307	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs369357029	chr4:526319-526320	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs534411786	chr4:526380-526381	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs377054993	chr4:526390-526391	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs530220832	chr4:526402-526403	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs386670393	chr4:526407-526408	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs73794942	chr4:526408-526409	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs73072175	chr4:526443-526444	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs73794944	chr4:526506-526507	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs574750991	chr4:526528-526529	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs187121617	chr4:526549-526550	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs550025703	chr4:526550-526551	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs192174938	chr4:526645-526646	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs183949340	chr4:526658-526659	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs4259011	chr4:526668-526669	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs545572055	chr4:526675-526676	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs4619835	chr4:526689-526690	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs4527430	chr4:526701-526702	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs386670394	chr4:526706-526707	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs375883358	chr4:526712-526713	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs141745685	chr4:526718-526719	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs563985952	chr4:526734-526735	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs202044395	chr4:526748-526749	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs374449156	chr4:526752-526753	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs185710907	chr4:526753-526754	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs549813510	chr4:526775-526776	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs111567551	chr4:526812-526813	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs561677182	chr4:526813-526814	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs370486029	chr4:526814-526815	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs374956048	chr4:526831-526832	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs3211083	chr4:526848-526849	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs532097991	chr4:526853-526854	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs77222403	chr4:526873-526874	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs565766877	chr4:526890-526891	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs539571879	chr4:526910-526911	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs552803446	chr4:526926-526927	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs373692944	chr4:526954-526955	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs538490409	chr4:526958-526959	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:494400-531000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:494400-533200	Strong transcription	Placenta	Placenta
3	chr4:494400-534600	Weak transcription	Fetal Heart	heart
4	chr4:494600-532000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:494600-533000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:494600-533200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:494600-533200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:495000-533000	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:495200-533000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:495200-534000	Strong transcription	Fetal Stomach	stomach
11	chr4:496400-533000	Strong transcription	Fetal Brain Female	brain
12	chr4:496800-532000	Strong transcription	Dnd41	blood
13	chr4:499600-526600	Strong transcription	Primary B cells from cord blood	blood
14	chr4:503000-530600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:503000-531600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr4:503200-530800	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr4:503600-532000	Strong transcription	Primary T cells from cord blood	blood
18	chr4:503800-532800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:504600-526200	Weak transcription	Stomach Mucosa	stomach
20	chr4:506400-533200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:506600-531800	Strong transcription	Thymus	Thymus
22	chr4:506600-532200	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:506600-532800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:506600-533200	Strong transcription	Fetal Intestine Large	intestine
25	chr4:506600-533400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:506600-533600	Strong transcription	Liver	Liver
27	chr4:506800-532000	Strong transcription	Duodenum Mucosa	Duodenum
28	chr4:506800-532600	Strong transcription	Aorta	Aorta
29	chr4:506800-533000	Strong transcription	Stomach Smooth Muscle	stomach
30	chr4:506800-533200	Strong transcription	Fetal Muscle Leg	muscle
31	chr4:507200-533400	Strong transcription	Brain Anterior Caudate	brain
32	chr4:507400-533600	Strong transcription	Brain Hippocampus Middle	brain
33	chr4:507600-533200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:507600-533600	Strong transcription	Brain Cingulate Gyrus	brain
35	chr4:508600-532000	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr4:508600-532200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:508600-532800	Strong transcription	Fetal Intestine Small	intestine
38	chr4:509000-529600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:509200-530600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr4:510000-535400	Weak transcription	Hela-S3	cervix
41	chr4:510400-528200	Weak transcription	Fetal Brain Male	brain
42	chr4:510400-531800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr4:513000-526400	Strong transcription	Brain Angular Gyrus	brain
44	chr4:513400-533000	Strong transcription	Gastric	stomach
45	chr4:514000-530800	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr4:514000-532000	Strong transcription	Right Ventricle	heart
47	chr4:514200-532000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:514200-532200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:514400-528600	Strong transcription	Primary B cells from peripheral blood	blood
50	chr4:514400-533200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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