Variant report

Variant	esv3342562
Chromosome Location	chr2:99046154-99053711
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	chr2:99046331..99048044-chr2:99057606..99059424,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INPP4A-1	chr2:99053394-99053684	NONHSAT072703

Extended variants
information (count: 127 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143089178	chr2:99046847-99046848	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs148185531	chr2:99046866-99046867	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs552501973	chr2:99046877-99046878	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs142684252	chr2:99046893-99046894	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs191767133	chr2:99046944-99046945	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs146939577	chr2:99046946-99046947	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs115589113	chr2:99046999-99047000	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs536862880	chr2:99047000-99047001	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs546711174	chr2:99048101-99048102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs181888816	chr2:99048205-99048206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs559430403	chr2:99048207-99048208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs528198083	chr2:99048219-99048220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs544956734	chr2:99048273-99048274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs564737945	chr2:99048302-99048303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs531063685	chr2:99048327-99048328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs532403072	chr2:99048328-99048329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs550910401	chr2:99048403-99048404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs186212425	chr2:99048418-99048419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs368783345	chr2:99048438-99048439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs546810814	chr2:99048483-99048484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs188967160	chr2:99048507-99048508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs36117338	chr2:99048529-99048530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs536555954	chr2:99048539-99048540	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs181332302	chr2:99048557-99048558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs186344123	chr2:99048572-99048573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs569199324	chr2:99048623-99048624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs534554942	chr2:99048691-99048692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs552896772	chr2:99048784-99048785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs192592843	chr2:99051016-99051017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs184780195	chr2:99051032-99051033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs146929638	chr2:99051147-99051148	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs547791314	chr2:99051172-99051173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs566614553	chr2:99051173-99051174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs77789605	chr2:99051231-99051232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs551906364	chr2:99051252-99051253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs189116565	chr2:99051316-99051317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs537536116	chr2:99051437-99051438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs74959952	chr2:99051468-99051469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs137909508	chr2:99051500-99051501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs571589581	chr2:99051523-99051524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs181449895	chr2:99051544-99051545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs553747606	chr2:99051589-99051590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs113173960	chr2:99051607-99051608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373712300	chr2:99051639-99051640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185160464	chr2:99051676-99051677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190008140	chr2:99051686-99051687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534423244	chr2:99051699-99051700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72933257	chr2:99051730-99051731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562193305	chr2:99051740-99051741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527800571	chr2:99051741-99051742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99046800-99047000	Bivalent Enhancer	HepG2	liver
2	chr2:99048000-99048800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr2:99051000-99051600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr2:99051000-99051600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:99051600-99058600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:99051800-99053800	Enhancers	A549	lung
7	chr2:99053000-99055400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:99053200-99053600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:99053200-99053600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:99053200-99053800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:99053400-99053800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:99053400-99054000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:99053400-99054200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:99053400-99054400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:99053400-99055200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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