Variant report

Variant	esv3439362
Chromosome Location	chr4:8699302-8701800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8701567..8704524-chr4:8729204..8732158,2	K562	blood:

Extended variants
information (count: 155 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543110772	chr4:8699336-8699337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564977661	chr4:8699343-8699344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532294281	chr4:8699394-8699395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541020574	chr4:8699395-8699396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559427835	chr4:8699403-8699404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566297317	chr4:8699440-8699441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536902678	chr4:8699450-8699451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530308812	chr4:8699479-8699480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372422240	chr4:8699485-8699486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374718474	chr4:8699490-8699491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4696911	chr4:8699540-8699541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs149696199	chr4:8699550-8699551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6829125	chr4:8699551-8699552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552895008	chr4:8699569-8699570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114823335	chr4:8699572-8699573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374668846	chr4:8699576-8699577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190832643	chr4:8699580-8699581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369254870	chr4:8699590-8699591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371479895	chr4:8699603-8699604	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs536122662	chr4:8699614-8699615	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs554857279	chr4:8699644-8699645	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs138538605	chr4:8699645-8699646	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs543639764	chr4:8699706-8699707	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs7672448	chr4:8699746-8699747	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576999153	chr4:8699828-8699829	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs373592455	chr4:8699832-8699833	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs559060509	chr4:8699836-8699837	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs116112038	chr4:8699902-8699903	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs10001200	chr4:8699954-8699955	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs367980396	chr4:8699960-8699961	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs372072810	chr4:8699989-8699990	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs547883757	chr4:8699996-8699997	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs531147286	chr4:8700009-8700010	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs182974267	chr4:8700012-8700013	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs564366876	chr4:8700015-8700016	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs369993740	chr4:8700062-8700063	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs528536497	chr4:8700082-8700083	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs546704972	chr4:8700083-8700084	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs568323753	chr4:8700092-8700093	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs535845781	chr4:8700105-8700106	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs141126200	chr4:8700139-8700140	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs569925702	chr4:8700151-8700152	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs537379281	chr4:8700156-8700157	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs558765204	chr4:8700157-8700158	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs146942702	chr4:8700159-8700160	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs534674625	chr4:8700171-8700172	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs137901478	chr4:8700180-8700181	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs536963144	chr4:8700181-8700182	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs574492209	chr4:8700192-8700193	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs541798281	chr4:8700193-8700194	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Melanoma	20688739	CNVD
Wilms tumour	21544195	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8697000-8700000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:8699600-8701600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:8699800-8700000	ZNF genes & repeats	Spleen	Spleen
4	chr4:8700000-8700600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:8700200-8701200	Weak transcription	Spleen	Spleen
6	chr4:8700600-8701600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:8701200-8701400	Enhancers	Spleen	Spleen
8	chr4:8701200-8701800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
9	chr4:8701600-8701800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:8701600-8701800	Enhancers	Pancreas	Pancrea
11	chr4:8701600-8702400	Enhancers	Brain Germinal Matrix	brain
12	chr4:8701600-8702600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr4:8701600-8703400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:8701800-8702200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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