Variant report

Variant	nsv1001345
Chromosome Location	chr3:89368629-89444995
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:89374362..89376361-chr3:89384187..89386718,2	MCF-7	breast:
2	chr3:89374528..89377645-chr3:89392593..89395332,3	MCF-7	breast:
3	chr3:89425184..89427715-chr3:89431081..89433096,2	MCF-7	breast:
4	chr3:89362727..89364940-chr3:89377326..89380080,2	MCF-7	breast:
5	chr3:89435683..89438107-chr3:89442264..89444057,2	MCF-7	breast:
6	chr3:89435683..89438107-chr3:89442264..89444057,2	MCF-7	breast:
7	chr3:89374362..89376361-chr3:89384187..89386718,2	MCF-7	breast:
8	chr3:89425184..89427715-chr3:89431081..89433096,2	MCF-7	breast:
9	chr3:89363840..89366727-chr3:89369296..89370950,2	MCF-7	breast:
10	chr3:89374528..89377645-chr3:89392593..89395332,3	MCF-7	breast:
11	chr3:89350735..89353187-chr3:89378356..89381194,2	MCF-7	breast:

No data

Extended variants
information (count: 2715 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:2715 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7619025	chr3:89368629-89368630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565853233	chr3:89368696-89368697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539535982	chr3:89368697-89368698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557962693	chr3:89368798-89368799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116681742	chr3:89368841-89368842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370420597	chr3:89368842-89368843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537394248	chr3:89368862-89368863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577454529	chr3:89368913-89368914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571545158	chr3:89368961-89368962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139964453	chr3:89369005-89369006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541041186	chr3:89369013-89369014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189609257	chr3:89369015-89369016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113988434	chr3:89369043-89369044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577694248	chr3:89369082-89369083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145435917	chr3:89369121-89369122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192818453	chr3:89369175-89369176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531821276	chr3:89369201-89369202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558608988	chr3:89369219-89369220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549915291	chr3:89369318-89369319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184745930	chr3:89369441-89369442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562066460	chr3:89369445-89369446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529511376	chr3:89369448-89369449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547423839	chr3:89369463-89369464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148826283	chr3:89369468-89369469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189608428	chr3:89369478-89369479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551577456	chr3:89369507-89369508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79897273	chr3:89369579-89369580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537262645	chr3:89369586-89369587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200439366	chr3:89369631-89369632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs180800438	chr3:89369651-89369652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577057063	chr3:89369667-89369668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534891810	chr3:89369671-89369672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201309562	chr3:89369686-89369687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553048812	chr3:89369694-89369695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577556013	chr3:89369711-89369712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544948617	chr3:89369712-89369713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143480115	chr3:89369730-89369731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs58036688	chr3:89369748-89369749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs397693945	chr3:89369757-89369758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34010452	chr3:89369760-89369761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575271216	chr3:89369777-89369778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543625687	chr3:89369780-89369781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147593743	chr3:89369783-89369784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533606889	chr3:89377853-89377854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183311474	chr3:89377866-89377867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564063968	chr3:89377868-89377869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148476994	chr3:89377932-89377933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111949368	chr3:89378010-89378011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571219757	chr3:89378014-89378015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs386663315	chr3:89378040-89378041	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:218 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89363600-89369000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:89369000-89369800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:89377800-89378400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr3:89378000-89378200	Enhancers	H9 Cell Line	embryonic stem cell
5	chr3:89378000-89378200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr3:89378200-89380200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:89378400-89378600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:89378400-89378800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:89378400-89380200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:89378600-89379000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:89378600-89380200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:89378800-89381000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:89379000-89379400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr3:89379400-89384000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:89379800-89380200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:89380000-89382400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr3:89380000-89382800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:89380200-89380400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr3:89380200-89381200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr3:89380200-89381400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr3:89380200-89382600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr3:89380200-89383000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:89380400-89381200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr3:89380600-89381400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr3:89381000-89382400	Enhancers	Brain Germinal Matrix	brain
26	chr3:89381000-89382800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:89381200-89381800	Enhancers	Psoas Muscle	Psoas
28	chr3:89381200-89382000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr3:89381200-89382000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr3:89381200-89382000	Enhancers	Stomach Smooth Muscle	stomach
31	chr3:89381200-89382200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:89381200-89382200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr3:89381200-89382400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr3:89381200-89382400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr3:89381200-89382400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr3:89381200-89382800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr3:89381200-89383000	Enhancers	Fetal Brain Female	brain
38	chr3:89381400-89381800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr3:89381400-89382000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr3:89381400-89382000	Enhancers	Brain Angular Gyrus	brain
41	chr3:89381400-89382200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:89381400-89382200	Enhancers	Brain Substantia Nigra	brain
43	chr3:89381600-89382000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:89381600-89382000	Enhancers	Brain Anterior Caudate	brain
45	chr3:89381600-89382000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr3:89381600-89382000	Enhancers	Fetal Muscle Leg	muscle
47	chr3:89381600-89382200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr3:89381600-89382200	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr3:89381600-89382200	Enhancers	Spleen	Spleen
50	chr3:89381600-89382400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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