Variant report

Variant	nsv527642
Chromosome Location	chr3:85551353-85619451
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:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:85561871..85565321-chr3:85567956..85571007,5	K562	blood:
2	chr3:85571729..85574723-chr3:85578667..85580600,2	K562	blood:
3	chr3:85525792..85532904-chr3:85548163..85554926,11	K562	blood:
4	chr3:85439579..85441215-chr3:85551442..85553756,2	K562	blood:
5	chr3:85554458..85559025-chr3:85559659..85564098,6	K562	blood:
6	chr3:85550694..85553715-chr3:85562655..85565189,4	K562	blood:
7	chr3:85503980..85505718-chr3:85553016..85554877,2	K562	blood:
8	chr3:85561871..85565321-chr3:85567956..85571007,5	K562	blood:
9	chr3:85495270..85496821-chr3:85554377..85556655,2	K562	blood:
10	chr3:85569919..85571559-chr3:85571800..85574471,2	K562	blood:
11	chr3:85461933..85464830-chr3:85550203..85551783,2	K562	blood:
12	chr3:85509846..85512397-chr3:85550866..85553089,2	K562	blood:
13	chr3:85582405..85584379-chr3:85589105..85591498,2	K562	blood:
14	chr3:84609476..84611998-chr3:85551707..85553249,2	K562	blood:
15	chr3:85554458..85559025-chr3:85559659..85564098,6	K562	blood:
16	chr3:85513919..85516830-chr3:85552866..85555627,2	K562	blood:
17	chr3:85520722..85524381-chr3:85549502..85554850,5	K562	blood:
18	chr3:85551480..85554348-chr3:85623401..85624978,2	K562	blood:
19	chr3:84287116..84289415-chr3:85550323..85553207,2	K562	blood:
20	chr22:22050906..22053807-chr3:85561046..85562647,2	K562	blood:
21	chr3:85512384..85516287-chr3:85548853..85551591,3	K562	blood:
22	chr3:85569919..85571559-chr3:85571800..85574471,2	K562	blood:
23	chr3:85550694..85553715-chr3:85562655..85565189,4	K562	blood:
24	chr3:85550792..85552939-chr3:85620775..85622757,2	K562	blood:
25	chr3:85549675..85551954-chr3:85625697..85627676,2	K562	blood:
26	chr3:85616525..85619382-chr3:85621735..85623491,2	K562	blood:
27	chr3:85582405..85584379-chr3:85589105..85591498,2	K562	blood:
28	chr3:85522328..85524379-chr3:85551882..85554402,2	K562	blood:
29	chr3:85528291..85540418-chr3:85548148..85554862,16	K562	blood:
30	chr3:84291765..84296920-chr3:85550637..85554814,6	K562	blood:
31	chr3:84994697..84996927-chr3:85551100..85552839,2	K562	blood:
32	chr3:85455981..85458898-chr3:85554544..85556051,2	K562	blood:
33	chr3:85512744..85515419-chr3:85552866..85554640,2	K562	blood:
34	chr3:85489023..85491028-chr3:85614972..85617090,2	K562	blood:
35	chr3:85571729..85574723-chr3:85578667..85580600,2	K562	blood:
36	chr3:85503835..85505718-chr3:85553016..85554877,3	K562	blood:
37	chr3:85486960..85489003-chr3:85551718..85553697,2	K562	blood:

No data

Extended variants
information (count: 1783 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1783 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12493645	chr3:85551353-85551354	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs726610	chr3:85551403-85551404	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs576342881	chr3:85551411-85551412	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs368561860	chr3:85551412-85551413	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs372891974	chr3:85551453-85551454	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs543453825	chr3:85551495-85551496	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs536294422	chr3:85551526-85551527	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs556496997	chr3:85551536-85551537	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs74799680	chr3:85551539-85551540	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs726609	chr3:85551552-85551553	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs547943884	chr3:85551558-85551559	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs373824839	chr3:85551623-85551624	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs528521746	chr3:85551624-85551625	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs560366174	chr3:85551629-85551630	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs551280466	chr3:85551631-85551632	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs6781652	chr3:85551642-85551643	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs552409619	chr3:85551733-85551734	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs191880447	chr3:85551763-85551764	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs537821160	chr3:85551768-85551769	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs73843636	chr3:85551776-85551777	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs12638798	chr3:85551820-85551821	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs138531708	chr3:85551940-85551941	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs141815104	chr3:85552043-85552044	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs374240575	chr3:85552049-85552050	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs572294323	chr3:85552110-85552111	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs145732439	chr3:85552125-85552126	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs539652787	chr3:85552152-85552153	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs183261263	chr3:85552175-85552176	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs576683825	chr3:85552185-85552186	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs56350211	chr3:85552220-85552221	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs58175373	chr3:85552230-85552231	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs373553047	chr3:85552231-85552232	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs55667839	chr3:85552233-85552234	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs386663088	chr3:85552238-85552239	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs570682061	chr3:85552239-85552240	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs62250753	chr3:85552240-85552241	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs80039138	chr3:85552242-85552243	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs79093540	chr3:85552243-85552244	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs77288822	chr3:85552244-85552245	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs368813143	chr3:85552313-85552314	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs564371597	chr3:85552317-85552318	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs146280028	chr3:85552362-85552363	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs371485685	chr3:85552377-85552378	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs550080629	chr3:85552415-85552416	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs187469437	chr3:85552476-85552477	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs528895988	chr3:85552561-85552562	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs550799010	chr3:85552632-85552633	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs374424307	chr3:85552717-85552718	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs547046422	chr3:85552733-85552734	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs139283229	chr3:85552768-85552769	Weak transcription 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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85545000-85569000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:85550400-85557200	Active TSS	K562	blood
3	chr3:85552800-85554800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr3:85553000-85554800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr3:85553000-85554800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr3:85553400-85554400	Active TSS	Pancreas	Pancrea
7	chr3:85553600-85554600	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr3:85553800-85554600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:85557200-85558200	Flanking Active TSS	K562	blood
10	chr3:85558200-85566800	Weak transcription	K562	blood
11	chr3:85560400-85561000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:85561200-85561600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr3:85569000-85569200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:85570800-85571200	Active TSS	A549	lung
15	chr3:85574000-85574800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr3:85574000-85574800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr3:85574800-85575400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr3:85574800-85576000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr3:85575400-85575600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr3:85576200-85576400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr3:85583000-85585400	Enhancers	Fetal Brain Male	brain
22	chr3:85583800-85585200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr3:85584200-85584800	Enhancers	Brain Anterior Caudate	brain
24	chr3:85584400-85585000	Enhancers	Brain Cingulate Gyrus	brain
25	chr3:85584400-85585200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr3:85584400-85585400	Enhancers	Brain Substantia Nigra	brain
27	chr3:85584600-85585000	Enhancers	Adipose Nuclei	Adipose
28	chr3:85584600-85585200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:85584600-85585200	Enhancers	Brain Angular Gyrus	brain
30	chr3:85584600-85585200	Enhancers	Brain Hippocampus Middle	brain
31	chr3:85584600-85585200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr3:85584800-85585000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr3:85584800-85585000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:85584800-85585200	Enhancers	Brain Germinal Matrix	brain
35	chr3:85584800-85587400	Weak transcription	Brain Anterior Caudate	brain
36	chr3:85585000-85588000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr3:85585200-85587200	Weak transcription	Brain Angular Gyrus	brain
38	chr3:85585200-85587400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:85585200-85587600	Weak transcription	Brain Hippocampus Middle	brain
40	chr3:85585400-85591000	Weak transcription	Brain Substantia Nigra	brain
41	chr3:85587200-85588000	Enhancers	Brain Angular Gyrus	brain
42	chr3:85587400-85587800	Enhancers	Brain Anterior Caudate	brain
43	chr3:85587400-85588000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:85587400-85588000	Enhancers	Psoas Muscle	Psoas
45	chr3:85587400-85589800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:85587600-85588200	Enhancers	Brain Hippocampus Middle	brain
47	chr3:85588000-85588600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr3:85591000-85597600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr3:85609000-85609400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr3:85609000-85610200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links