Variant report

Variant	nsv877094
Chromosome Location	chr3:85124697-85253981
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:85209393..85211289-chr3:85214657..85216931,2	K562	blood:
2	chr3:80636124..80636926-chr3:85151824..85152666,2	Hela-S3	cervix:
3	chr14:33567272..33568194-chr3:85240415..85241255,2	MCF-7	breast:
4	chr3:85209393..85211289-chr3:85214657..85216931,2	K562	blood:
5	chr2:75010074..75010799-chr3:85210133..85210807,2	MCF-7	breast:
6	chr17:56707416..56709502-chr3:85166850..85168946,2	MCF-7	breast:
7	chr3:85243785..85244488-chr6:122933006..122933585,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212195	chromatin interactions

Extended variants
information (count: 4272 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:4272 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11127876	chr3:85124697-85124698	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs13327579	chr3:85124705-85124706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183318052	chr3:85124860-85124861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572068618	chr3:85124865-85124866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2200460	chr3:85124901-85124902	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs368806447	chr3:85124992-85124993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554279593	chr3:85125100-85125101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145293785	chr3:85125172-85125173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs57738865	chr3:85125216-85125217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369127050	chr3:85125266-85125267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147651407	chr3:85125269-85125270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs59322652	chr3:85125274-85125275	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs112571711	chr3:85125284-85125285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574026395	chr3:85125308-85125309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533666678	chr3:85125340-85125341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114361401	chr3:85125433-85125434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551041785	chr3:85125455-85125456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377196649	chr3:85125463-85125464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71108205	chr3:85125490-85125491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555935442	chr3:85125585-85125586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs117627010	chr3:85125588-85125589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541390109	chr3:85125615-85125616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376089580	chr3:85125645-85125646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553335700	chr3:85125646-85125647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553431966	chr3:85125746-85125747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142281162	chr3:85125783-85125784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192054436	chr3:85125808-85125809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564316209	chr3:85125840-85125841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184036500	chr3:85125841-85125842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534126193	chr3:85125861-85125862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576110110	chr3:85125871-85125872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543918919	chr3:85125885-85125886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562009961	chr3:85125893-85125894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545263952	chr3:85125894-85125895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186803123	chr3:85125929-85125930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547842113	chr3:85125971-85125972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559782855	chr3:85125994-85125995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191127605	chr3:85126001-85126002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377042819	chr3:85126015-85126016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376342063	chr3:85126038-85126039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13074075	chr3:85126070-85126071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs545542517	chr3:85126095-85126096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551744710	chr3:85126111-85126112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570231876	chr3:85126117-85126118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537217351	chr3:85126132-85126133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149156315	chr3:85126138-85126139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567848385	chr3:85126178-85126179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535154933	chr3:85126185-85126186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143309035	chr3:85126196-85126197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571667475	chr3:85126214-85126215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	21858162	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
Autism	22102821	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:277 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85106200-85127400	Weak transcription	Brain Hippocampus Middle	brain
2	chr3:85116600-85130400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr3:85118200-85130400	Weak transcription	Brain Substantia Nigra	brain
4	chr3:85122400-85130800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:85123200-85125600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:85123600-85124800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr3:85124200-85127200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:85124200-85130400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:85124400-85125400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:85124600-85125000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:85124600-85125000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:85124800-85125400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:85124800-85125600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:85124800-85125600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:85125000-85130400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr3:85125000-85130600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr3:85125400-85130400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:85125400-85130600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:85125600-85130400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:85125600-85130400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:85125600-85130600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr3:85127200-85127600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr3:85127400-85128000	Enhancers	Brain Hippocampus Middle	brain
24	chr3:85127600-85130400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr3:85128000-85130600	Weak transcription	Brain Hippocampus Middle	brain
26	chr3:85129400-85129800	Enhancers	A549	lung
27	chr3:85129800-85130200	Weak transcription	A549	lung
28	chr3:85130000-85132000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:85130200-85130400	Enhancers	A549	lung
30	chr3:85130200-85131400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr3:85130400-85130600	Flanking Active TSS	A549	lung
32	chr3:85130400-85131000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr3:85130400-85131000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr3:85130400-85131000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:85130400-85131000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr3:85130400-85131200	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr3:85130400-85131600	Enhancers	Brain Anterior Caudate	brain
38	chr3:85130400-85132000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr3:85130400-85132000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr3:85130400-85132000	Enhancers	Brain Angular Gyrus	brain
41	chr3:85130400-85132200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:85130400-85132200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr3:85130400-85133800	Enhancers	Brain Substantia Nigra	brain
44	chr3:85130600-85130800	Enhancers	Brain Cingulate Gyrus	brain
45	chr3:85130600-85130800	Active TSS	A549	lung
46	chr3:85130600-85131200	Enhancers	Fetal Brain Male	brain
47	chr3:85130600-85131400	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr3:85130600-85131400	Enhancers	Colon Smooth Muscle	Colon
49	chr3:85130600-85131800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:85130600-85131800	Enhancers	HUES6 Cell Line	embryonic stem cell

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