Variant report

Variant	esv1843821
Chromosome Location	chr4:752210-753716
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr4:753649-754094	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr4:753669-754012	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr4:753711-753871	K562	blood:	n/a	n/a
4	JUND	chr4:752012-752612	H1-hESC	embryonic stem cell:	n/a	n/a
5	JUND	chr4:753441-753551	H1-hESC	embryonic stem cell:	n/a	n/a
6	JUND	chr4:753635-753883	H1-hESC	embryonic stem cell:	n/a	n/a
7	JUND	chr4:753010-753169	HepG2	liver:	n/a	n/a
8	JUND	chr4:752012-752518	H1-hESC	embryonic stem cell:	n/a	n/a
9	JUND	chr4:753667-753858	H1-hESC	embryonic stem cell:	n/a	n/a
10	JUND	chr4:752692-752851	HepG2	liver:	n/a	n/a
11	JUND	chr4:753525-753646	HepG2	liver:	n/a	n/a
12	POLR2A	chr4:752034-752490	K562	blood:	n/a	n/a
13	POLR2A	chr4:752566-752842	GM12891	blood:	n/a	n/a
14	POLR2A	chr4:751986-752417	K562	blood:	n/a	n/a
15	POLR2A	chr4:752893-753160	GM12891	blood:	n/a	n/a
16	POLR2A	chr4:753695-754183	U87	brain:	n/a	n/a
17	POLR2A	chr4:752226-752457	K562	blood:	n/a	n/a
18	POLR2A	chr4:753019-754283	K562	blood:	n/a	n/a
19	SP1	chr4:753491-754071	H1-hESC	embryonic stem cell:	n/a	n/a
20	SP1	chr4:753491-754125	H1-hESC	embryonic stem cell:	n/a	n/a
21	SP1	chr4:751874-752600	H1-hESC	embryonic stem cell:	n/a	n/a
22	SP1	chr4:751861-752671	H1-hESC	embryonic stem cell:	n/a	n/a
23	SP1	chr4:751991-753736	K562	blood:	n/a	n/a
24	TAF1	chr4:752670-752942	H1-hESC	embryonic stem cell:	n/a	n/a
25	TAF1	chr4:752988-753260	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZBTB33	chr4:752549-753332	K562	blood:	n/a	n/a
27	ZBTB33	chr4:753484-753738	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:666788..669425-chr4:753705..755956,2	K562	blood:
2	chr4:745562..749408-chr4:752726..755779,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272588	TF binding region
ENSG00000169020	chromatin interactions
ENSG00000215375	chromatin interactions

Extended variants
information (count: 83 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146236395	chr4:752227-752228	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs564917454	chr4:752235-752236	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs532130936	chr4:752244-752245	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs375179194	chr4:752257-752258	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs544326120	chr4:752265-752266	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs59438465	chr4:752276-752277	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs62294068	chr4:752277-752278	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs372039136	chr4:752299-752300	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs71604319	chr4:752314-752315	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs191430616	chr4:752329-752330	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs73222804	chr4:752332-752333	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs71602713	chr4:752337-752338	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs201442107	chr4:752338-752339	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs183701765	chr4:752348-752349	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs200255642	chr4:752356-752357	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs376808596	chr4:752357-752358	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs71602714	chr4:752359-752360	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs567950323	chr4:752371-752372	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs528803433	chr4:752384-752385	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs71602715	chr4:752390-752391	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs531940079	chr4:752394-752395	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs550438360	chr4:752418-752419	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs571339539	chr4:752419-752420	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs113377921	chr4:752434-752435	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs71604320	chr4:752436-752437	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs373397462	chr4:752443-752444	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs538626168	chr4:752449-752450	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs13152804	chr4:752454-752455	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs113511671	chr4:752456-752457	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
30	rs113486737	chr4:752468-752469	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs76170876	chr4:752487-752488	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs112996527	chr4:752489-752490	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs79031894	chr4:752495-752496	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs78242470	chr4:752496-752497	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs548271809	chr4:752507-752508	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs11732991	chr4:752509-752510	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs11722414	chr4:752521-752522	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs569214082	chr4:752532-752533	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs11736273	chr4:752540-752541	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs377653964	chr4:752547-752548	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs554514915	chr4:752559-752560	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs113243903	chr4:752574-752575	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs374663220	chr4:752577-752578	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs13143141	chr4:752593-752594	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs182290283	chr4:752600-752601	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs111974043	chr4:752623-752624	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs62294069	chr4:752627-752628	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs370149585	chr4:752630-752631	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs373872209	chr4:752648-752649	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs113478024	chr4:752706-752707	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:702200-754800	Weak transcription	Hela-S3	cervix
2	chr4:727000-767600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:728600-755800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:728600-763400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr4:729000-754600	Weak transcription	Fetal Kidney	kidney
6	chr4:729000-762600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:729600-753800	Weak transcription	Psoas Muscle	Psoas
8	chr4:729600-760800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:733600-753800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:741400-752400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:741400-752400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:741400-752800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:741400-752800	Strong transcription	Fetal Thymus	thymus
14	chr4:741600-752400	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr4:741600-752400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:741600-752400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr4:741600-752800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:742600-754400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:742600-763600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr4:742800-754200	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:742800-756200	Weak transcription	Stomach Mucosa	stomach
22	chr4:742800-764000	Weak transcription	Small Intestine	intestine
23	chr4:744200-754800	Weak transcription	NHEK	skin
24	chr4:744400-753800	Weak transcription	A549	lung
25	chr4:744400-763400	Weak transcription	Right Atrium	heart
26	chr4:744600-753800	Weak transcription	HUVEC	blood vessel
27	chr4:744600-754000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:745400-754800	Weak transcription	NHDF-Ad	bronchial
29	chr4:745600-752800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:745800-752400	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr4:746000-753800	Weak transcription	Fetal Heart	heart
32	chr4:746000-753800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr4:746000-754400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr4:746000-773800	Weak transcription	Fetal Brain Male	brain
35	chr4:746200-752400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:746200-754400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr4:746200-758600	Weak transcription	Brain Anterior Caudate	brain
38	chr4:746800-752400	Strong transcription	Fetal Muscle Leg	muscle
39	chr4:747000-752600	Strong transcription	Fetal Muscle Trunk	muscle
40	chr4:747000-753800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr4:747000-754400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr4:747000-756400	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr4:747200-754400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr4:748200-763400	Weak transcription	Brain Substantia Nigra	brain
45	chr4:749000-753800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr4:749000-754000	Weak transcription	Primary B cells from cord blood	blood
47	chr4:749000-754400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr4:749000-754400	Weak transcription	Right Ventricle	heart
49	chr4:749000-754600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr4:749200-752400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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