Variant report

Variant	esv1849368
Chromosome Location	chr4:1391152-1392367
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:1391809..1396481-chr4:1400263..1404304,5	K562	blood:
2	chr4:1367559..1370361-chr4:1391933..1394578,2	K562	blood:
3	chr4:1391126..1393483-chr4:1395042..1398028,2	MCF-7	breast:
4	chr4:1385707..1387814-chr4:1390928..1394108,3	K562	blood:
5	chr4:1391181..1394010-chr4:1399067..1401828,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163945	chromatin interactions
ENSG00000235608	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528803830	chr4:1391174-1391175	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189651733	chr4:1391175-1391176	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183010872	chr4:1391191-1391192	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532611507	chr4:1391193-1391194	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs550761371	chr4:1391205-1391206	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569363466	chr4:1391216-1391217	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200857857	chr4:1391219-1391220	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs536335235	chr4:1391225-1391226	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs554962410	chr4:1391233-1391234	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12108373	chr4:1391235-1391236	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369258586	chr4:1391241-1391242	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs72501967	chr4:1391243-1391244	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs199678553	chr4:1391246-1391247	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs577199741	chr4:1391258-1391259	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs183584842	chr4:1391261-1391262	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs369883575	chr4:1391278-1391279	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs75986114	chr4:1391280-1391281	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs76802424	chr4:1391286-1391287	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs369992758	chr4:1391291-1391292	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544464866	chr4:1391302-1391303	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs372582375	chr4:1391306-1391307	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs55761338	chr4:1391310-1391311	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs112755307	chr4:1391316-1391317	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs375869552	chr4:1391325-1391326	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs72643405	chr4:1391331-1391332	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs76193464	chr4:1391336-1391337	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs74680002	chr4:1391345-1391346	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs77405375	chr4:1391351-1391352	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs77705650	chr4:1391368-1391369	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs75028687	chr4:1391370-1391371	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs375390366	chr4:1391376-1391377	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs74667697	chr4:1391381-1391382	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs188751449	chr4:1391396-1391397	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs74808209	chr4:1391415-1391416	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs74966114	chr4:1391421-1391422	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs62284758	chr4:1391426-1391427	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
37	rs56106524	chr4:1391460-1391461	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375515224	chr4:1391466-1391467	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs369637916	chr4:1391471-1391472	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs79218640	chr4:1391503-1391504	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs62286760	chr4:1391505-1391506	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs78344930	chr4:1391561-1391562	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs375753712	chr4:1391595-1391596	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs199706061	chr4:1391601-1391602	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs77517581	chr4:1391606-1391607	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs373244708	chr4:1391621-1391622	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs72643406	chr4:1391640-1391641	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs371056067	chr4:1391646-1391647	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs74208809	chr4:1391651-1391652	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs76717519	chr4:1391685-1391686	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Type 2 diabetes	21754918	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1380400-1391200	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:1380400-1391400	Weak transcription	HepG2	liver
3	chr4:1382200-1392200	Weak transcription	Psoas Muscle	Psoas
4	chr4:1382800-1391200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:1384400-1391200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr4:1386400-1391200	ZNF genes & repeats	Fetal Stomach	stomach
7	chr4:1387600-1391200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:1387600-1391200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
9	chr4:1387600-1391200	ZNF genes & repeats	Dnd41	blood
10	chr4:1387800-1391800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:1388000-1391200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:1388000-1391200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr4:1388000-1392000	Weak transcription	Left Ventricle	heart
14	chr4:1388400-1391200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:1388400-1391200	Weak transcription	Brain Anterior Caudate	brain
16	chr4:1388600-1391400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr4:1388800-1391200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:1388800-1391200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:1389200-1391200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr4:1389600-1392400	Weak transcription	Brain Hippocampus Middle	brain
21	chr4:1389600-1393400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:1389600-1393600	Weak transcription	Ovary	ovary
23	chr4:1389800-1392400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:1390000-1391200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:1390000-1391600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:1390000-1391600	ZNF genes & repeats	Gastric	stomach
27	chr4:1390200-1391600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:1390200-1391600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr4:1390400-1391200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
30	chr4:1390800-1391400	ZNF genes & repeats	Pancreas	Pancrea
31	chr4:1390800-1393200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
32	chr4:1391000-1391200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr4:1391000-1391200	Enhancers	Right Ventricle	heart
34	chr4:1391000-1391400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
35	chr4:1391000-1391400	ZNF genes & repeats	Esophagus	oesophagus
36	chr4:1391200-1391400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:1391200-1391400	ZNF genes & repeats	Colon Smooth Muscle	Colon
38	chr4:1391200-1391600	ZNF genes & repeats	Brain Anterior Caudate	brain
39	chr4:1391200-1392400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:1391200-1392400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:1391200-1392400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:1391200-1392400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr4:1391200-1396600	Weak transcription	Right Atrium	heart
44	chr4:1391600-1392400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:1392200-1393400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin

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