Variant report

Variant	esv1809430
Chromosome Location	chr2:98237687-98240470
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	chr2:98236811..98238337-chr2:98279045..98280683,2	K562	blood:

Variant related genes	Relation type
ENSG00000228486	chromatin interactions
ENSG00000115073	chromatin interactions

Extended variants
information (count: 135 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193077514	chr2:98237687-98237688	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs116577910	chr2:98237689-98237690	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs56125452	chr2:98237737-98237738	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs57737892	chr2:98237744-98237745	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs373964034	chr2:98237920-98237921	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs199994849	chr2:98237949-98237950	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs200939859	chr2:98237955-98237956	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs558640136	chr2:98237989-98237990	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs2259802	chr2:98238035-98238036	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs544379843	chr2:98238062-98238063	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs555130527	chr2:98238087-98238088	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs2259799	chr2:98238098-98238099	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs573867787	chr2:98238126-98238127	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs542812667	chr2:98238185-98238186	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs189821978	chr2:98238294-98238295	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs4080689	chr2:98238318-98238319	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs376568272	chr2:98238327-98238328	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs3896682	chr2:98238340-98238341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528331933	chr2:98238387-98238388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545326160	chr2:98238389-98238390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564722173	chr2:98238394-98238395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs3970408	chr2:98238406-98238407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181394800	chr2:98238420-98238421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185721732	chr2:98238421-98238422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs3970409	chr2:98238425-98238426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4069474	chr2:98238452-98238453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4069475	chr2:98238461-98238462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188184383	chr2:98238480-98238481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2922531	chr2:98238519-98238520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2922532	chr2:98238538-98238539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529761141	chr2:98238552-98238553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61528711	chr2:98238580-98238581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2692939	chr2:98238602-98238603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567064278	chr2:98238636-98238637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538955339	chr2:98238677-98238678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1972986	chr2:98238757-98238758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1972987	chr2:98238793-98238794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569138319	chr2:98238798-98238799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3970410	chr2:98238858-98238859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4069476	chr2:98238859-98238860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4069477	chr2:98238861-98238862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4069478	chr2:98238871-98238872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4069479	chr2:98238877-98238878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4069480	chr2:98238881-98238882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4069481	chr2:98238886-98238887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375464778	chr2:98238960-98238961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538274421	chr2:98238978-98238979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574961168	chr2:98239029-98239030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2579561	chr2:98239060-98239061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2595319	chr2:98239081-98239082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98233400-98240400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:98236200-98240200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:98240200-98240800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:98240400-98240600	Enhancers	Fetal Muscle Trunk	muscle

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