Variant report

Variant	nsv492289
Chromosome Location	chr3:85066623-85319147
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:85093876..85094794-chr6:170459325..170460193,2	MCF-7	breast:
2	chr2:75010074..75010799-chr3:85210133..85210807,2	MCF-7	breast:
3	chr3:85277464..85279349-chr3:85282954..85285645,2	MCF-7	breast:
4	chr3:85091072..85092895-chr3:85093228..85096203,2	K562	blood:
5	chr2:3280509..3281035-chr3:85109594..85110094,2	MCF-7	breast:
6	chr3:80636124..80636926-chr3:85151824..85152666,2	Hela-S3	cervix:
7	chr3:85091072..85092895-chr3:85093228..85096203,2	K562	blood:
8	chr17:56707416..56709502-chr3:85166850..85168946,2	MCF-7	breast:
9	chr3:85079311..85079892-chr9:126116062..126116943,2	MCF-7	breast:
10	chr17:61841151..61841973-chr3:85118490..85119197,2	MCF-7	breast:
11	chr3:85209393..85211289-chr3:85214657..85216931,2	K562	blood:
12	chr14:33567272..33568194-chr3:85240415..85241255,2	MCF-7	breast:
13	chr3:85243785..85244488-chr6:122933006..122933585,2	MCF-7	breast:
14	chr3:85277464..85279349-chr3:85282954..85285645,2	MCF-7	breast:
15	chr3:85209393..85211289-chr3:85214657..85216931,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000212195	chromatin interactions

Extended variants
information (count: 7637 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:7637 , 50 per page) page: 1 2 3 4 5 6 7 ... 153

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373028670	chr3:85066637-85066638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188884699	chr3:85066643-85066644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs80000537	chr3:85066665-85066666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550814593	chr3:85066683-85066684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs80155233	chr3:85066694-85066695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566622149	chr3:85066699-85066700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533968861	chr3:85066705-85066706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192324186	chr3:85066756-85066757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559142870	chr3:85066778-85066779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183520694	chr3:85066782-85066783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544652691	chr3:85066788-85066789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375094119	chr3:85066947-85066948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376873639	chr3:85066963-85066964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9874302	chr3:85066988-85066989	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs73139677	chr3:85067006-85067007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs9816652	chr3:85067018-85067019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs143006338	chr3:85067027-85067028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17022294	chr3:85067074-85067075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs113342113	chr3:85067108-85067109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs17022298	chr3:85067131-85067132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs532058957	chr3:85067176-85067177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575471841	chr3:85067196-85067197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550318535	chr3:85067206-85067207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7633802	chr3:85067224-85067225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs570380229	chr3:85067248-85067249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544523949	chr3:85067253-85067254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548507209	chr3:85067306-85067307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566771229	chr3:85067333-85067334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534005428	chr3:85067346-85067347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558773206	chr3:85067361-85067362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113049551	chr3:85067409-85067410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570975669	chr3:85067413-85067414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538311408	chr3:85067437-85067438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148194487	chr3:85067483-85067484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574733090	chr3:85067512-85067513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7622394	chr3:85067513-85067514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs140365745	chr3:85067548-85067549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188099609	chr3:85067562-85067563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374927067	chr3:85067584-85067585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150385194	chr3:85067601-85067602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564305415	chr3:85067603-85067604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576551075	chr3:85067605-85067606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191808224	chr3:85067630-85067631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562434888	chr3:85067680-85067681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529742418	chr3:85067696-85067697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547855412	chr3:85067697-85067698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368160573	chr3:85067712-85067713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560474219	chr3:85067757-85067758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370622891	chr3:85067767-85067768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79649405	chr3:85067776-85067777	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:569 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85055600-85068200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:85055800-85081400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr3:85057200-85071400	Weak transcription	Brain Anterior Caudate	brain
4	chr3:85065200-85082200	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:85066200-85071200	Weak transcription	Brain Substantia Nigra	brain
6	chr3:85068200-85068600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:85068600-85068800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:85068600-85068800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:85068600-85068800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:85068600-85090600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:85068800-85069800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:85068800-85071400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:85069800-85070000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr3:85069800-85070000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr3:85069800-85070600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:85070000-85071200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:85070000-85073000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr3:85070400-85070600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr3:85070600-85072800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:85070600-85073000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr3:85071000-85071200	Enhancers	Fetal Brain Female	brain
22	chr3:85071000-85073400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr3:85071200-85071600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr3:85071200-85071600	Enhancers	Brain Substantia Nigra	brain
25	chr3:85071200-85071800	Enhancers	Brain Angular Gyrus	brain
26	chr3:85071400-85071600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr3:85071400-85071800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr3:85071400-85071800	Enhancers	Brain Anterior Caudate	brain
29	chr3:85071400-85071800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr3:85071400-85082400	Weak transcription	Fetal Brain Female	brain
31	chr3:85071600-85071800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr3:85071600-85073000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr3:85071600-85074400	Weak transcription	Brain Substantia Nigra	brain
34	chr3:85071600-85082000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr3:85071800-85072800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr3:85071800-85073000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr3:85071800-85081400	Weak transcription	Brain Angular Gyrus	brain
38	chr3:85072800-85073600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr3:85072800-85073800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr3:85073000-85073200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr3:85073000-85073600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr3:85073000-85073600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr3:85073000-85074000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr3:85073200-85073600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr3:85073400-85077200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:85073600-85078400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr3:85073600-85078600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr3:85073600-85078800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr3:85073600-85079000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr3:85073800-85078400	Weak transcription	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links