Variant report

Variant	esv3444484
Chromosome Location	chr4:1391745-1392468
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000235608	chromatin interactions
ENSG00000163945	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78292453	chr4:1391756-1391757	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs374538483	chr4:1391773-1391774	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs72501968	chr4:1391781-1391782	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs372327919	chr4:1391786-1391787	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs79631041	chr4:1391801-1391802	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs375239311	chr4:1391820-1391821	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369772029	chr4:1391831-1391832	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs372365048	chr4:1391876-1391877	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs35096811	chr4:1391910-1391911	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs368814098	chr4:1391955-1391956	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs75337921	chr4:1391961-1391962	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs78628319	chr4:1391966-1391967	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs377121039	chr4:1391981-1391982	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs369398996	chr4:1392000-1392001	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs76293991	chr4:1392006-1392007	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs373584514	chr4:1392011-1392012	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs377686560	chr4:1392056-1392057	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs371224228	chr4:1392071-1392072	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs375926433	chr4:1392090-1392091	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs377727652	chr4:1392096-1392097	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs370295396	chr4:1392101-1392102	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs373732626	chr4:1392135-1392136	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs367955182	chr4:1392146-1392147	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs56023491	chr4:1392161-1392162	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs56044458	chr4:1392171-1392172	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs77062024	chr4:1392180-1392181	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs75235811	chr4:1392186-1392187	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs113171676	chr4:1392191-1392192	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs56720050	chr4:1392206-1392207	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs71614974	chr4:1392225-1392226	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs55922946	chr4:1392231-1392232	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs368222845	chr4:1392236-1392237	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs11941909	chr4:1392251-1392252	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs11933216	chr4:1392270-1392271	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs11938814	chr4:1392276-1392277	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs112147832	chr4:1392296-1392297	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs11938821	chr4:1392321-1392322	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs113136113	chr4:1392326-1392327	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs13147435	chr4:1392336-1392337	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs78867863	chr4:1392341-1392342	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs112134603	chr4:1392360-1392361	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs532647960	chr4:1392361-1392362	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs111544753	chr4:1392366-1392367	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs112857534	chr4:1392368-1392369	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs113043860	chr4:1392371-1392372	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs550798379	chr4:1392386-1392387	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs201821695	chr4:1392411-1392412	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs549656036	chr4:1392418-1392419	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs562903503	chr4:1392425-1392426	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs141985622	chr4:1392426-1392427	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1382200-1392200	Weak transcription	Psoas Muscle	Psoas
2	chr4:1387800-1391800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:1388000-1392000	Weak transcription	Left Ventricle	heart
4	chr4:1389600-1392400	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:1389600-1393400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:1389600-1393600	Weak transcription	Ovary	ovary
7	chr4:1389800-1392400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:1390800-1393200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr4:1391200-1392400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:1391200-1392400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:1391200-1392400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:1391200-1392400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:1391200-1396600	Weak transcription	Right Atrium	heart
14	chr4:1391600-1392400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:1392200-1393400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:1392400-1392800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:1392400-1393000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:1392400-1393600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:1392400-1394400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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