Variant report

Variant	esv2315321
Chromosome Location	chr4:730129-730671
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

Extended variants
information (count: 67 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568839029	chr4:730132-730133	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs13110907	chr4:730139-730140	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs576781285	chr4:730172-730173	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs544208998	chr4:730241-730242	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs562608858	chr4:730258-730259	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs530160572	chr4:730263-730264	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs114503621	chr4:730272-730273	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
8	rs560125073	chr4:730273-730274	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs370341455	chr4:730275-730276	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs149813422	chr4:730283-730284	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
11	rs556023780	chr4:730292-730293	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs527576577	chr4:730300-730301	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs552138569	chr4:730314-730315	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs186098484	chr4:730315-730316	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs111864507	chr4:730318-730319	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs189452542	chr4:730319-730320	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs115092101	chr4:730323-730324	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
18	rs61342154	chr4:730334-730335	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs182056002	chr4:730343-730344	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs113593280	chr4:730365-730366	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs186034669	chr4:730369-730370	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs375497120	chr4:730370-730371	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549820801	chr4:730372-730373	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs151044273	chr4:730374-730375	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs7677842	chr4:730385-730386	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
26	rs546524265	chr4:730394-730395	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs535230571	chr4:730409-730410	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs567066405	chr4:730417-730418	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs573406327	chr4:730435-730436	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs534409307	chr4:730437-730438	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs190754195	chr4:730454-730455	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577136077	chr4:730461-730462	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs111454184	chr4:730471-730472	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs183113686	chr4:730476-730477	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs373618950	chr4:730479-730480	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529178554	chr4:730485-730486	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs111599837	chr4:730487-730488	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs377048856	chr4:730503-730504	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs112135853	chr4:730509-730510	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs574862758	chr4:730517-730518	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs371443936	chr4:730519-730520	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs113167215	chr4:730527-730528	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs61069900	chr4:730530-730531	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs113586297	chr4:730538-730539	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs541999984	chr4:730541-730542	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs550521949	chr4:730547-730548	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs560636955	chr4:730556-730557	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	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
49	rs61600248	chr4:730570-730571	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs546034121	chr4:730571-730572	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:128 , 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	chr4:723800-730200	Strong transcription	Pancreas	Pancrea
18	chr4:723800-734600	Strong transcription	Right Ventricle	heart
19	chr4:723800-735000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:723800-735800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr4:723800-736200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr4:723800-737600	Strong transcription	Dnd41	blood
23	chr4:723800-738400	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr4:724000-735800	Strong transcription	Stomach Smooth Muscle	stomach
25	chr4:724200-732400	Strong transcription	Colon Smooth Muscle	Colon
26	chr4:724200-732400	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr4:724200-734800	Strong transcription	Gastric	stomach
28	chr4:724200-735000	Strong transcription	Left Ventricle	heart
29	chr4:724200-738600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:724200-738600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:724400-732000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:724400-732000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr4:724400-732200	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr4:724400-732200	Strong transcription	Aorta	Aorta
35	chr4:724400-732400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr4:724400-732600	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr4:724400-732800	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr4:724400-733600	Strong transcription	Brain Angular Gyrus	brain
39	chr4:724400-734200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
40	chr4:724400-734200	Strong transcription	NHLF	lung
41	chr4:724400-734400	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr4:724400-734400	Strong transcription	Brain Hippocampus Middle	brain
43	chr4:724400-734800	Strong transcription	Brain Anterior Caudate	brain
44	chr4:724400-735000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:724400-735000	Strong transcription	Primary B cells from peripheral blood	blood
46	chr4:724400-735000	Strong transcription	Ovary	ovary
47	chr4:724400-735200	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr4:724400-735200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr4:724400-735200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr4:724400-735200	Strong transcription	Adipose Nuclei	Adipose

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