Variant report

Variant	nsv1003638
Chromosome Location	chr2:36058196-36188379
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36167966..36170859-chr2:36172337..36174849,2	MCF-7	breast:
2	chr2:36167966..36170859-chr2:36172337..36174849,2	MCF-7	breast:
3	chr2:36099243..36100067-chr2:36734209..36735134,2	MCF-7	breast:

Extended variants
information (count: 2418 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2418 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181888346	chr2:36064027-36064028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566607520	chr2:36064030-36064031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533655161	chr2:36064049-36064050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558678526	chr2:36064074-36064075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576980002	chr2:36064082-36064083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544073929	chr2:36064107-36064108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368189571	chr2:36064131-36064132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184883458	chr2:36064164-36064165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs954788	chr2:36064218-36064219	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs144026997	chr2:36064284-36064285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527743680	chr2:36064332-36064333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545994649	chr2:36064345-36064346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555786248	chr2:36064347-36064348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567666576	chr2:36064351-36064352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs954789	chr2:36064368-36064369	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs147302825	chr2:36064374-36064375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148208306	chr2:36064377-36064378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2056302	chr2:36064473-36064474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368158137	chr2:36064488-36064489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548162894	chr2:36064489-36064490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566355907	chr2:36064550-36064551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533851291	chr2:36064604-36064605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141210130	chr2:36064619-36064620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570606153	chr2:36064621-36064622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114567116	chr2:36064658-36064659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189590015	chr2:36064661-36064662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150717114	chr2:36064709-36064710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535368642	chr2:36064759-36064760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554100582	chr2:36064762-36064763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1519697	chr2:36064810-36064811	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs139066204	chr2:36064827-36064828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564457485	chr2:36064878-36064879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375938960	chr2:36064885-36064886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576700720	chr2:36064892-36064893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544075004	chr2:36064902-36064903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs56946789	chr2:36064909-36064910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116158698	chr2:36064919-36064920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529572705	chr2:36064940-36064941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs180707856	chr2:36065007-36065008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75092974	chr2:36065017-36065018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144137994	chr2:36065050-36065051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560065808	chr2:36065053-36065054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371699238	chr2:36065065-36065066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185379481	chr2:36065076-36065077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552235865	chr2:36065085-36065086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76185122	chr2:36065141-36065142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139980096	chr2:36065152-36065153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549520232	chr2:36065167-36065168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190922499	chr2:36065192-36065193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535334697	chr2:36065196-36065197	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36064000-36065800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:36064200-36065200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:36064400-36065000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:36065800-36066200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:36066200-36067000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:36066400-36066800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:36066800-36082400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:36070400-36070800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr2:36071400-36071800	Enhancers	HepG2	liver
10	chr2:36082200-36082800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:36082200-36083200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:36082400-36083000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:36082400-36083000	Enhancers	Fetal Kidney	kidney
14	chr2:36082400-36083200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:36082400-36083200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:36082600-36083000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr2:36082600-36083000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:36082800-36083200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:36083000-36084200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:36083200-36083800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:36084200-36084400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:36084400-36085000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:36085000-36085200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:36095800-36096800	Enhancers	Fetal Brain Male	brain
25	chr2:36096000-36097000	Enhancers	Fetal Brain Female	brain
26	chr2:36097800-36098000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:36098000-36102800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:36102200-36103000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:36102800-36103000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:36116800-36118000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:36116800-36118200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:36117000-36117400	Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr2:36117000-36117600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:36117000-36117600	Active TSS	Liver	Liver
35	chr2:36117200-36117600	Active TSS	Primary T cells fromperipheralblood	blood
36	chr2:36117200-36117600	Active TSS	Duodenum Mucosa	Duodenum
37	chr2:36117200-36117600	Bivalent/Poised TSS	A549	lung
38	chr2:36117600-36117800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:36131600-36132000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:36135200-36135400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:36149800-36150200	Enhancers	Fetal Lung	lung
42	chr2:36150200-36150600	Weak transcription	Fetal Lung	lung
43	chr2:36150600-36151200	Enhancers	Fetal Lung	lung
44	chr2:36150800-36151600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:36150800-36151800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:36151600-36156200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:36151800-36154600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:36154400-36155000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr2:36154600-36155000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:36154600-36155000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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