Variant report

Variant	esv3442098
Chromosome Location	chr4:725307-726054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:715797..718296-chr4:723930..726819,3	K562	blood:
2	chr4:718846..721970-chr4:722068..726476,6	K562	blood:
3	chr4:725258..728014-chr4:756169..758632,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185619	chromatin interactions
ENSG00000248416	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543866598	chr4:725318-725319	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs111615412	chr4:725319-725320	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs556577623	chr4:725324-725325	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs111687278	chr4:725329-725330	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs556253168	chr4:725350-725351	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs35927802	chr4:725352-725353	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs35758218	chr4:725373-725374	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs35365796	chr4:725374-725375	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs111427961	chr4:725378-725379	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs80206705	chr4:725392-725393	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs543214434	chr4:725411-725412	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs113345788	chr4:725417-725418	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs558556257	chr4:725426-725427	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs56730137	chr4:725440-725441	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
15	rs34263090	chr4:725445-725446	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs541057512	chr4:725470-725471	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs572553683	chr4:725471-725472	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs559485154	chr4:725476-725477	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs574514181	chr4:725483-725484	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs561492006	chr4:725493-725494	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs542014085	chr4:725501-725502	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs113436516	chr4:725513-725514	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs13113962	chr4:725541-725542	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs111416434	chr4:725562-725563	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs546635698	chr4:725590-725591	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs574114802	chr4:725619-725620	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs370809220	chr4:725639-725640	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs373115627	chr4:725660-725661	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs563908148	chr4:725667-725668	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs540959716	chr4:725673-725674	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs531083585	chr4:725680-725681	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs549471431	chr4:725687-725688	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs532113391	chr4:725718-725719	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs370989255	chr4:725737-725738	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs377354028	chr4:725760-725761	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs537330125	chr4:725768-725769	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs565129206	chr4:725771-725772	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs375595529	chr4:725809-725810	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs532491749	chr4:725823-725824	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs550709861	chr4:725828-725829	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs73058441	chr4:725829-725830	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
42	rs56346743	chr4:725837-725838	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs71614938	chr4:725858-725859	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs111404938	chr4:725878-725879	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs113698065	chr4:725886-725887	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs373858627	chr4:725906-725907	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs528445828	chr4:725907-725908	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs546631369	chr4:725917-725918	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs71614939	chr4:725927-725928	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs71614940	chr4:725935-725936	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 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:147 , 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	chr4:702800-726600	Weak transcription	Primary B cells from cord blood	blood
3	chr4:703400-726800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr4:703600-727200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr4:704600-727600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:708200-736400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr4:709200-726200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:709200-726200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr4:713400-727600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:714200-726200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:715200-726200	Weak transcription	HMEC	breast
12	chr4:715600-750200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:718400-735400	Weak transcription	Fetal Heart	heart
14	chr4:718600-732600	Weak transcription	Stomach Mucosa	stomach
15	chr4:719000-733000	Strong transcription	Fetal Intestine Small	intestine
16	chr4:720000-738400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:720800-727400	Weak transcription	Psoas Muscle	Psoas
18	chr4:720800-738400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:721000-726000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr4:721000-727400	Weak transcription	NHDF-Ad	bronchial
21	chr4:721000-738600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:721000-743600	Weak transcription	Right Atrium	heart
23	chr4:721800-727400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:721800-727400	Weak transcription	Fetal Kidney	kidney
25	chr4:721800-727600	Weak transcription	Fetal Brain Male	brain
26	chr4:721800-728600	Weak transcription	Small Intestine	intestine
27	chr4:722000-726200	Weak transcription	HUVEC	blood vessel
28	chr4:722000-726200	Weak transcription	NH-A	brain
29	chr4:722000-736000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr4:722400-725400	Genic enhancers	Fetal Muscle Trunk	muscle
31	chr4:723200-735800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr4:723600-725400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:723600-725400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:723600-725400	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr4:723600-727200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:723600-733400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:723600-735800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr4:723600-736400	Strong transcription	Fetal Brain Female	brain
39	chr4:723600-738600	Strong transcription	Brain Germinal Matrix	brain
40	chr4:723800-725400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
41	chr4:723800-730200	Strong transcription	Pancreas	Pancrea
42	chr4:723800-734600	Strong transcription	Right Ventricle	heart
43	chr4:723800-735000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:723800-735800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr4:723800-736200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr4:723800-737600	Strong transcription	Dnd41	blood
47	chr4:723800-738400	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr4:724000-729800	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr4:724000-735800	Strong transcription	Stomach Smooth Muscle	stomach
50	chr4:724200-725400	Strong transcription	Primary T cells from cord blood	blood

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