Variant report

Variant	esv1818085
Chromosome Location	chr4:629099-638615
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:514493..516331-chr4:631156..634018,2	K562	blood:
2	chr4:626527..629135-chr4:629423..631548,2	MCF-7	breast:
3	chr4:629506..631102-chr4:666468..668539,2	K562	blood:
4	chr4:611669..613220-chr4:626593..629173,2	MCF-7	breast:
5	chr4:629516..632051-chr4:640070..643057,2	MCF-7	breast:
6	chr4:636643..638712-chr4:668092..669702,2	MCF-7	breast:
7	chr4:615876..617771-chr4:628086..630978,3	K562	blood:
8	chr4:636743..639513-chr4:642400..644519,2	MCF-7	breast:
9	chr4:627338..629172-chr4:662112..664476,2	MCF-7	breast:
10	chr4:618337..620311-chr4:627716..629406,2	MCF-7	breast:
11	chr4:626527..629135-chr4:629423..631548,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169020	chromatin interactions
ENSG00000174227	chromatin interactions
ENSG00000133256	chromatin interactions
ENSG00000215375	chromatin interactions

Extended variants
information (count: 438 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112581403	chr4:629101-629102	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542584673	chr4:629102-629103	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs371436370	chr4:629115-629116	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560753630	chr4:629140-629141	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374736355	chr4:629141-629142	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs112455084	chr4:629149-629150	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528102472	chr4:629151-629152	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs112991420	chr4:629177-629178	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs370315162	chr4:629193-629194	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs546245251	chr4:629226-629227	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs113985708	chr4:629233-629234	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs13109818	chr4:629241-629242	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs557249458	chr4:629255-629256	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs575827021	chr4:629256-629257	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs564650036	chr4:629281-629282	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371813056	chr4:629285-629286	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs533343228	chr4:629293-629294	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs551607278	chr4:629301-629302	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs34587890	chr4:629333-629334	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs539711250	chr4:629377-629378	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs537380154	chr4:629392-629393	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs549666968	chr4:629417-629418	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs148927838	chr4:629434-629435	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs28538930	chr4:629437-629438	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs188885070	chr4:629481-629482	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs181634311	chr4:629482-629483	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs544289909	chr4:629483-629484	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs78918869	chr4:629493-629494	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs557220234	chr4:629548-629549	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs575477559	chr4:629576-629577	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs185260449	chr4:629582-629583	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs542519695	chr4:629583-629584	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs561255665	chr4:629595-629596	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs572857110	chr4:629609-629610	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs73056580	chr4:629610-629611	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs189710914	chr4:629616-629617	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs564637157	chr4:629644-629645	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs532105875	chr4:629645-629646	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs375116150	chr4:629680-629681	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs551545798	chr4:629681-629682	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs200664252	chr4:629698-629699	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs62295357	chr4:629702-629703	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs199674705	chr4:629710-629711	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs201584824	chr4:629729-629730	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs201593198	chr4:629741-629742	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs148264146	chr4:629746-629747	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs374915809	chr4:629747-629748	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs369318359	chr4:629748-629749	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs554692149	chr4:629749-629750	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs75543439	chr4:629753-629754	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Pancreatic cancer	17952125	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:624600-630400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:626400-642000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:626800-630400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:627000-633000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:628600-629400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:629400-630400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:630000-631600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr4:630200-630400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:630200-631000	Bivalent Enhancer	Fetal Stomach	stomach
10	chr4:630400-630600	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:630400-632000	Enhancers	Fetal Brain Male	brain
12	chr4:630600-630800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:630600-631400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:630600-631800	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr4:630800-632000	Enhancers	Fetal Kidney	kidney
16	chr4:631400-631600	Bivalent Enhancer	Placenta	Placenta
17	chr4:631400-631800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:631400-631800	Active TSS	Brain Hippocampus Middle	brain
19	chr4:631400-631800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr4:631400-632000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:631400-632000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:631400-632000	Active TSS	Fetal Brain Female	brain
23	chr4:631400-657000	Weak transcription	Right Atrium	heart
24	chr4:631800-632000	Enhancers	Brain Substantia Nigra	brain

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