Variant report

Variant	esv3442121
Chromosome Location	chr4:730547-731067
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:730505..733857-chr4:980653..984284,3	K562	blood:
2	chr4:700770..703438-chr4:730148..732108,2	K562	blood:
3	chr4:726284..729928-chr4:730296..736157,5	MCF-7	breast:
4	chr4:727198..730283-chr4:730855..734765,3	K562	blood:
5	chr4:728720..731096-chr4:734113..735798,2	K562	blood:
6	chr4:681148..683046-chr4:730200..733059,3	K562	blood:

Variant related genes	Relation type
ENSG00000169026	chromatin interactions
ENSG00000127415	chromatin interactions
ENSG00000145214	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550521949	chr4:730547-730548	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs560636955	chr4:730556-730557	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs11725699	chr4:730560-730561	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs61600248	chr4:730570-730571	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs546034121	chr4:730571-730572	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs564341797	chr4:730573-730574	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs200769085	chr4:730584-730585	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs375623754	chr4:730589-730590	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs59917930	chr4:730591-730592	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs60100296	chr4:730598-730599	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs56748363	chr4:730599-730600	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs57209516	chr4:730607-730608	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs60776919	chr4:730612-730613	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs56095756	chr4:730613-730614	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs549787673	chr4:730614-730615	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs58212656	chr4:730615-730616	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs539082226	chr4:730616-730617	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs60142262	chr4:730623-730624	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs58086154	chr4:730632-730633	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs56864344	chr4:730639-730640	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs112440025	chr4:730643-730644	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs192459908	chr4:730669-730670	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs34631590	chr4:730673-730674	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs58646612	chr4:730674-730675	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs60933762	chr4:730683-730684	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs7672742	chr4:730690-730691	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs111332082	chr4:730710-730711	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs113464320	chr4:730714-730715	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs79006058	chr4:730716-730717	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs112466749	chr4:730717-730718	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs56849335	chr4:730720-730721	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs112720212	chr4:730725-730726	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs111318571	chr4:730734-730735	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs113451993	chr4:730741-730742	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs60757106	chr4:730743-730744	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs61721900	chr4:730749-730750	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs112390946	chr4:730776-730777	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs111602117	chr4:730785-730786	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs59262464	chr4:730792-730793	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs7663801	chr4:730818-730819	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs112201879	chr4:730822-730823	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs7663812	chr4:730825-730826	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs57453316	chr4:730843-730844	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs111695007	chr4:730845-730846	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs113339135	chr4:730873-730874	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs111418224	chr4:730894-730895	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs111601616	chr4:730896-730897	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs528978196	chr4:730914-730915	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs11723180	chr4:730920-730921	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs547131462	chr4:730921-730922	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 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:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:702200-754800	Weak transcription	Hela-S3	cervix
2	chr4:708200-736400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr4:715600-750200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:718400-735400	Weak transcription	Fetal Heart	heart
5	chr4:718600-732600	Weak transcription	Stomach Mucosa	stomach
6	chr4:719000-733000	Strong transcription	Fetal Intestine Small	intestine
7	chr4:720000-738400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:720800-738400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:721000-738600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:721000-743600	Weak transcription	Right Atrium	heart
11	chr4:722000-736000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:723200-735800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:723600-733400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:723600-735800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr4:723600-736400	Strong transcription	Fetal Brain Female	brain
16	chr4:723600-738600	Strong transcription	Brain Germinal Matrix	brain
17	chr4:723800-734600	Strong transcription	Right Ventricle	heart
18	chr4:723800-735000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:723800-735800	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr4:723800-736200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr4:723800-737600	Strong transcription	Dnd41	blood
22	chr4:723800-738400	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr4:724000-735800	Strong transcription	Stomach Smooth Muscle	stomach
24	chr4:724200-732400	Strong transcription	Colon Smooth Muscle	Colon
25	chr4:724200-732400	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr4:724200-734800	Strong transcription	Gastric	stomach
27	chr4:724200-735000	Strong transcription	Left Ventricle	heart
28	chr4:724200-738600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:724200-738600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:724400-732000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:724400-732000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:724400-732200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr4:724400-732200	Strong transcription	Aorta	Aorta
34	chr4:724400-732400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr4:724400-732600	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr4:724400-732800	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr4:724400-733600	Strong transcription	Brain Angular Gyrus	brain
38	chr4:724400-734200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
39	chr4:724400-734200	Strong transcription	NHLF	lung
40	chr4:724400-734400	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr4:724400-734400	Strong transcription	Brain Hippocampus Middle	brain
42	chr4:724400-734800	Strong transcription	Brain Anterior Caudate	brain
43	chr4:724400-735000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:724400-735000	Strong transcription	Primary B cells from peripheral blood	blood
45	chr4:724400-735000	Strong transcription	Ovary	ovary
46	chr4:724400-735200	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr4:724400-735200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr4:724400-735200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:724400-735200	Strong transcription	Adipose Nuclei	Adipose
50	chr4:724400-735200	Strong transcription	Liver	Liver

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