Variant report

Variant	esv1835953
Chromosome Location	chr4:1080357-1083914
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr4:1082608-1082822	K562	blood:	n/a	n/a
2	CBX3	chr4:1082524-1082950	K562	blood:	n/a	n/a
3	CTCF	chr4:1082761-1082838	Spleen_OC	spleen:	n/a	n/a
4	KAP1	chr4:1082463-1083006	HEK293	kidney:	n/a	n/a
5	KAP1	chr4:1082597-1082980	K562	blood:	n/a	n/a
6	MYC	chr4:1083800-1083918	MCF-7	breast:	n/a	n/a
7	SETDB1	chr4:1082401-1083080	U2OS	brain:	n/a	n/a
8	TRIM28	chr4:1082569-1082938	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:1076013..1078004-chr4:1078598..1081280,2	K562	blood:
2	chr4:1058468..1061069-chr4:1080892..1083707,2	K562	blood:

Variant related genes	Relation type
RNF212	TF binding region

Extended variants
information (count: 144 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs585735	chr4:1080391-1080392	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192924988	chr4:1080439-1080440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557052314	chr4:1080533-1080534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575400148	chr4:1080561-1080562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111216208	chr4:1080798-1080799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186715978	chr4:1080878-1080879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182748278	chr4:1080911-1080912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111216249	chr4:1080924-1080925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184801767	chr4:1080935-1080936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540033010	chr4:1080952-1080953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111216444	chr4:1080953-1080954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188929651	chr4:1081026-1081027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192985269	chr4:1081039-1081040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185318226	chr4:1081040-1081041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189379725	chr4:1081045-1081046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542773933	chr4:1081069-1081070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554254934	chr4:1081165-1081166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181477324	chr4:1081262-1081263	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs13136494	chr4:1081307-1081308	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs151308849	chr4:1081311-1081312	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs541337965	chr4:1081312-1081313	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs559999068	chr4:1081351-1081352	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs533310511	chr4:1081353-1081354	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs544923102	chr4:1081369-1081370	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs111436949	chr4:1081370-1081371	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs562865803	chr4:1081381-1081382	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs79329953	chr4:1081419-1081420	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs62294747	chr4:1081483-1081484	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs184166450	chr4:1081511-1081512	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs369413999	chr4:1081528-1081529	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs188409220	chr4:1081579-1081580	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs181841120	chr4:1081587-1081588	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs142733201	chr4:1081606-1081607	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs186581731	chr4:1081623-1081624	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs571525262	chr4:1081658-1081659	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs538972332	chr4:1081670-1081671	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs557187828	chr4:1081694-1081695	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs569108809	chr4:1081737-1081738	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs536321361	chr4:1081749-1081750	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs554673289	chr4:1081753-1081754	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs112883152	chr4:1081755-1081756	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs190589493	chr4:1081771-1081772	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs79277426	chr4:1081827-1081828	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs577914579	chr4:1081829-1081830	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs545320797	chr4:1081883-1081884	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs527804042	chr4:1081889-1081890	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs563523707	chr4:1081897-1081898	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs181488265	chr4:1081909-1081910	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs542726504	chr4:1081949-1081950	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs561434520	chr4:1081994-1081995	Weak transcription ZNF genes & repeats	n/a	n/a	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
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD
Breast cancer	20932292	CNVD
Cancer	20164919	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1076800-1082400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:1079400-1080400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:1080000-1080400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr4:1080000-1080400	Enhancers	Spleen	Spleen
5	chr4:1080200-1086000	Weak transcription	Pancreas	Pancrea
6	chr4:1080400-1081200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:1081200-1082600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:1083200-1085200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:1083800-1084800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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