Variant report

Variant	nsv877104
Chromosome Location	chr3:85646426-85737646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:85689296..85692115-chr3:85697978..85700192,2	K562	blood:
2	chr3:85691376..85694166-chr3:85695879..85697418,2	K562	blood:
3	chr3:85689296..85692115-chr3:85697978..85700192,2	K562	blood:
4	chr3:85657188..85659401-chr3:85663146..85665310,2	MCF-7	breast:
5	chr3:85657188..85659401-chr3:85663146..85665310,2	MCF-7	breast:
6	chr16:62102334..62103232-chr3:85670335..85671139,2	MCF-7	breast:
7	chr3:85691376..85694166-chr3:85695879..85697418,2	K562	blood:

Extended variants
information (count: 2168 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:2168 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1900916	chr3:85646426-85646427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186941520	chr3:85646433-85646434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530107205	chr3:85646492-85646493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566149587	chr3:85646517-85646518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1947221	chr3:85646525-85646526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs558514826	chr3:85646536-85646537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541546156	chr3:85646572-85646573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147465760	chr3:85646585-85646586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570023467	chr3:85646586-85646587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537083130	chr3:85646600-85646601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79568348	chr3:85646623-85646624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192206830	chr3:85646645-85646646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139846767	chr3:85646701-85646702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115415171	chr3:85646714-85646715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145681736	chr3:85646721-85646722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564261237	chr3:85646734-85646735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575972972	chr3:85646799-85646800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1449402	chr3:85646828-85646829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs1449401	chr3:85646850-85646851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs185359980	chr3:85646851-85646852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77261713	chr3:85646883-85646884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559891836	chr3:85646891-85646892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533400284	chr3:85646901-85646902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552034792	chr3:85647014-85647015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151106626	chr3:85647086-85647087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570279681	chr3:85647106-85647107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116592392	chr3:85647110-85647111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549358684	chr3:85647131-85647132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567917402	chr3:85647142-85647143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188227736	chr3:85647183-85647184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114526502	chr3:85647185-85647186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75367653	chr3:85647223-85647224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539285549	chr3:85647270-85647271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557956589	chr3:85647298-85647299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576224756	chr3:85647309-85647310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139887883	chr3:85647326-85647327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566281445	chr3:85647370-85647371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533794187	chr3:85647373-85647374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149838399	chr3:85647412-85647413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547457942	chr3:85647431-85647432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193259295	chr3:85647432-85647433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540713109	chr3:85647439-85647440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145809673	chr3:85647446-85647447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140308171	chr3:85647469-85647470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185554664	chr3:85647478-85647479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200180908	chr3:85647482-85647483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76791867	chr3:85647484-85647485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563916765	chr3:85647493-85647494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370347156	chr3:85647496-85647497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559158035	chr3:85647566-85647567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
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
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
Esophageal cancer	20955586	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85644000-85652200	Weak transcription	Fetal Brain Male	brain
2	chr3:85648400-85648800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:85651200-85651400	Enhancers	Brain Anterior Caudate	brain
4	chr3:85651400-85653000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:85651400-85653400	Weak transcription	Brain Anterior Caudate	brain
6	chr3:85651800-85652000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
7	chr3:85652000-85652400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:85652000-85652600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:85652000-85652800	Enhancers	Brain Substantia Nigra	brain
10	chr3:85652000-85653000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr3:85652200-85652400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
12	chr3:85652200-85652400	Enhancers	Fetal Brain Male	brain
13	chr3:85652200-85652600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:85652200-85652800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:85652400-85652600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:85652800-85654000	Weak transcription	Brain Substantia Nigra	brain
17	chr3:85653000-85653400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:85653400-85654000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:85653400-85654000	Enhancers	Brain Anterior Caudate	brain
20	chr3:85654000-85654200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:85654000-85654200	Enhancers	Brain Substantia Nigra	brain
22	chr3:85654200-85654600	Weak transcription	Brain Substantia Nigra	brain
23	chr3:85654600-85655000	Enhancers	Brain Substantia Nigra	brain
24	chr3:85657800-85658000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr3:85666200-85666600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:85671200-85671400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:85671600-85672200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:85671600-85672600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:85672600-85674600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:85674600-85674800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:85674800-85675400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:85675200-85676000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr3:85675400-85676000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:85675400-85677200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:85675400-85677400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr3:85675400-85677400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr3:85675400-85677400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr3:85675800-85676600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr3:85675800-85676800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr3:85675800-85677400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr3:85676000-85676400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr3:85676000-85676600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr3:85676000-85677000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:85676400-85677400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr3:85676600-85677000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr3:85676800-85677400	Enhancers	H1 Cell Line	embryonic stem cell
47	chr3:85677000-85677200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:85677000-85677400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr3:85677800-85680400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr3:85687000-85687400	Enhancers	Brain Germinal Matrix	brain

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