Variant report

Variant	nsv1006433
Chromosome Location	chr3:85535783-85631667
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:51)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:85549675..85551954-chr3:85625697..85627676,2	K562	blood:
2	chr3:84994697..84996927-chr3:85551100..85552839,2	K562	blood:
3	chr3:85455981..85458898-chr3:85554544..85556051,2	K562	blood:
4	chr3:85550792..85552939-chr3:85620775..85622757,2	K562	blood:
5	chr3:85520722..85524381-chr3:85549502..85554850,5	K562	blood:
6	chr3:85503835..85505718-chr3:85553016..85554877,3	K562	blood:
7	chr3:85554458..85559025-chr3:85559659..85564098,6	K562	blood:
8	chr3:84287116..84289415-chr3:85550323..85553207,2	K562	blood:
9	chr3:85512384..85516287-chr3:85548853..85551591,3	K562	blood:
10	chr3:85503980..85505718-chr3:85553016..85554877,2	K562	blood:
11	chr3:85571729..85574723-chr3:85578667..85580600,2	K562	blood:
12	chr3:85534090..85536047-chr3:85539153..85540993,2	K562	blood:
13	chr3:85512744..85515419-chr3:85552866..85554640,2	K562	blood:
14	chr3:84291765..84296920-chr3:85550637..85554814,6	K562	blood:
15	chr3:85561871..85565321-chr3:85567956..85571007,5	K562	blood:
16	chr3:85513919..85516830-chr3:85552866..85555627,2	K562	blood:
17	chr3:85582405..85584379-chr3:85589105..85591498,2	K562	blood:
18	chr3:85525792..85532904-chr3:85548163..85554926,11	K562	blood:
19	chr3:85509846..85512397-chr3:85550866..85553089,2	K562	blood:
20	chr3:85409636..85410536-chr3:85624933..85625875,2	MCF-7	breast:
21	chr3:85500332..85501905-chr3:85547491..85549616,2	K562	blood:
22	chr3:85571729..85574723-chr3:85578667..85580600,2	K562	blood:
23	chr3:85528291..85540418-chr3:85548148..85554862,16	K562	blood:
24	chr3:85551480..85554348-chr3:85623401..85624978,2	K562	blood:
25	chr3:85528291..85540418-chr3:85548148..85554862,16	K562	blood:
26	chr3:85489023..85491028-chr3:85614972..85617090,2	K562	blood:
27	chr3:85495270..85496821-chr3:85554377..85556655,2	K562	blood:
28	chr3:85582405..85584379-chr3:85589105..85591498,2	K562	blood:
29	chr3:85550694..85553715-chr3:85562655..85565189,4	K562	blood:
30	chr3:85353254..85353869-chr3:85625261..85626043,2	MCF-7	breast:
31	chr3:85550792..85552939-chr3:85620775..85622757,2	K562	blood:
32	chr3:85461933..85464830-chr3:85550203..85551783,2	K562	blood:
33	chr3:85439579..85441215-chr3:85551442..85553756,2	K562	blood:
34	chr3:85353629..85354290-chr3:85624959..85625479,2	K562	blood:
35	chr3:85522328..85524379-chr3:85551882..85554402,2	K562	blood:
36	chr3:85616525..85619382-chr3:85621735..85623491,2	K562	blood:
37	chr3:85531519..85533472-chr3:85537388..85539522,2	K562	blood:
38	chr3:84609476..84611998-chr3:85551707..85553249,2	K562	blood:
39	chr3:85561871..85565321-chr3:85567956..85571007,5	K562	blood:
40	chr3:85551480..85554348-chr3:85623401..85624978,2	K562	blood:
41	chr3:85353497..85354172-chr3:85624891..85625399,2	MCF-7	breast:
42	chr3:85487121..85488806-chr3:85536380..85538383,2	K562	blood:
43	chr3:85534090..85536047-chr3:85539153..85540993,2	K562	blood:
44	chr3:85569919..85571559-chr3:85571800..85574471,2	K562	blood:
45	chr3:85486960..85489003-chr3:85551718..85553697,2	K562	blood:
46	chr3:85569919..85571559-chr3:85571800..85574471,2	K562	blood:
47	chr3:85550694..85553715-chr3:85562655..85565189,4	K562	blood:
48	chr22:22050906..22053807-chr3:85561046..85562647,2	K562	blood:
49	chr3:85549675..85551954-chr3:85625697..85627676,2	K562	blood:
50	chr3:85554458..85559025-chr3:85559659..85564098,6	K562	blood:

No data

Extended variants
information (count: 2663 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:2663 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186767753	chr3:85535786-85535787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145705342	chr3:85535788-85535789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76177044	chr3:85535799-85535800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56816351	chr3:85535855-85535856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs371324814	chr3:85535856-85535857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs398091628	chr3:85535858-85535859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138185938	chr3:85535875-85535876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542454944	chr3:85535966-85535967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2326314	chr3:85536005-85536006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs528378971	chr3:85536031-85536032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540195666	chr3:85536050-85536051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367744433	chr3:85536052-85536053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115251164	chr3:85536058-85536059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11127894	chr3:85536085-85536086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs550672792	chr3:85536088-85536089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570321544	chr3:85536091-85536092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11412583	chr3:85536092-85536093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530305432	chr3:85536104-85536105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548502846	chr3:85536185-85536186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566580537	chr3:85536230-85536231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530018672	chr3:85536234-85536235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567129017	chr3:85536260-85536261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534241873	chr3:85536309-85536310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2077839	chr3:85536314-85536315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs183221491	chr3:85536345-85536346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560378613	chr3:85536360-85536361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570492466	chr3:85536382-85536383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188086411	chr3:85536428-85536429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2326315	chr3:85536479-85536480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs12107032	chr3:85536499-85536500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs542367077	chr3:85536536-85536537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367913205	chr3:85536539-85536540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192927537	chr3:85536548-85536549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373503471	chr3:85536559-85536560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573057014	chr3:85536565-85536566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568892122	chr3:85536640-85536641	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142792164	chr3:85536683-85536684	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146148208	chr3:85536697-85536698	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1184666	chr3:85536721-85536722	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112613086	chr3:85536790-85536791	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199690564	chr3:85536792-85536793	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372515131	chr3:85536875-85536876	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs532139071	chr3:85536881-85536882	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs201495797	chr3:85536883-85536884	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs544263794	chr3:85536889-85536890	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs185146565	chr3:85536898-85536899	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs150865830	chr3:85536899-85536900	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs548731509	chr3:85536916-85536917	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs540245421	chr3:85536924-85536925	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs566939085	chr3:85536958-85536959	Enhancers Active TSS	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85519200-85536800	Weak transcription	Fetal Brain Male	brain
2	chr3:85536600-85537000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr3:85536800-85537000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:85536800-85537000	Enhancers	Fetal Brain Male	brain
5	chr3:85542600-85542800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:85542800-85544400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:85544400-85544800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:85544400-85545600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr3:85544600-85545400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr3:85544800-85545000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:85545000-85569000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:85550400-85557200	Active TSS	K562	blood
13	chr3:85552800-85554800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr3:85553000-85554800	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr3:85553000-85554800	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr3:85553400-85554400	Active TSS	Pancreas	Pancrea
17	chr3:85553600-85554600	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr3:85553800-85554600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:85557200-85558200	Flanking Active TSS	K562	blood
20	chr3:85558200-85566800	Weak transcription	K562	blood
21	chr3:85560400-85561000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:85561200-85561600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr3:85569000-85569200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:85570800-85571200	Active TSS	A549	lung
25	chr3:85574000-85574800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr3:85574000-85574800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr3:85574800-85575400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr3:85574800-85576000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr3:85575400-85575600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr3:85576200-85576400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr3:85583000-85585400	Enhancers	Fetal Brain Male	brain
32	chr3:85583800-85585200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr3:85584200-85584800	Enhancers	Brain Anterior Caudate	brain
34	chr3:85584400-85585000	Enhancers	Brain Cingulate Gyrus	brain
35	chr3:85584400-85585200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr3:85584400-85585400	Enhancers	Brain Substantia Nigra	brain
37	chr3:85584600-85585000	Enhancers	Adipose Nuclei	Adipose
38	chr3:85584600-85585200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:85584600-85585200	Enhancers	Brain Angular Gyrus	brain
40	chr3:85584600-85585200	Enhancers	Brain Hippocampus Middle	brain
41	chr3:85584600-85585200	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr3:85584800-85585000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr3:85584800-85585000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:85584800-85585200	Enhancers	Brain Germinal Matrix	brain
45	chr3:85584800-85587400	Weak transcription	Brain Anterior Caudate	brain
46	chr3:85585000-85588000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr3:85585200-85587200	Weak transcription	Brain Angular Gyrus	brain
48	chr3:85585200-85587400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:85585200-85587600	Weak transcription	Brain Hippocampus Middle	brain
50	chr3:85585400-85591000	Weak transcription	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links