Variant report

Variant	nsv1009927
Chromosome Location	chr3:85497666-85669155
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:83)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:83 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:85522620..85526472-chr3:85527505..85529886,4	K562	blood:
2	chr3:84287116..84289415-chr3:85550323..85553207,2	K562	blood:
3	chr3:85520722..85524381-chr3:85549502..85554850,5	K562	blood:
4	chr3:85522328..85524379-chr3:85551882..85554402,2	K562	blood:
5	chr3:85561871..85565321-chr3:85567956..85571007,5	K562	blood:
6	chr3:85510932..85513927-chr3:85533761..85535530,2	K562	blood:
7	chr3:85569919..85571559-chr3:85571800..85574471,2	K562	blood:
8	chr3:85518552..85520271-chr3:85524775..85526982,3	K562	blood:
9	chr3:85503835..85505718-chr3:85553016..85554877,3	K562	blood:
10	chr3:85512744..85515419-chr3:85552866..85554640,2	K562	blood:
11	chr3:85439579..85441215-chr3:85551442..85553756,2	K562	blood:
12	chr3:85522328..85524379-chr3:85551882..85554402,2	K562	blood:
13	chr3:85500332..85501905-chr3:85547491..85549616,2	K562	blood:
14	chr3:85657188..85659401-chr3:85663146..85665310,2	MCF-7	breast:
15	chr3:85512744..85515419-chr3:85552866..85554640,2	K562	blood:
16	chr3:85487121..85488806-chr3:85536380..85538383,2	K562	blood:
17	chr3:85571729..85574723-chr3:85578667..85580600,2	K562	blood:
18	chr3:85657188..85659401-chr3:85663146..85665310,2	MCF-7	breast:
19	chr3:85503980..85505718-chr3:85553016..85554877,2	K562	blood:
20	chr3:85508686..85510616-chr3:85515146..85516824,2	K562	blood:
21	chr3:85525792..85532904-chr3:85548163..85554926,11	K562	blood:
22	chr3:85549675..85551954-chr3:85625697..85627676,2	K562	blood:
23	chr3:85486960..85489003-chr3:85551718..85553697,2	K562	blood:
24	chr3:85550792..85552939-chr3:85620775..85622757,2	K562	blood:
25	chr3:85512384..85516287-chr3:85548853..85551591,3	K562	blood:
26	chr3:85571729..85574723-chr3:85578667..85580600,2	K562	blood:
27	chr3:85527157..85529788-chr3:85532322..85535724,4	K562	blood:
28	chr3:84609476..84611998-chr3:85551707..85553249,2	K562	blood:
29	chr3:85509846..85512397-chr3:85550866..85553089,2	K562	blood:
30	chr3:85353497..85354172-chr3:85624891..85625399,2	MCF-7	breast:
31	chr3:85510932..85513927-chr3:85533761..85535530,2	K562	blood:
32	chr3:85520722..85524381-chr3:85549502..85554850,5	K562	blood:
33	chr3:85534090..85536047-chr3:85539153..85540993,2	K562	blood:
34	chr3:85616525..85619382-chr3:85621735..85623491,2	K562	blood:
35	chr3:85509846..85512397-chr3:85550866..85553089,2	K562	blood:
36	chr3:85525792..85532904-chr3:85548163..85554926,11	K562	blood:
37	chr3:85549675..85551954-chr3:85625697..85627676,2	K562	blood:
38	chr3:85528291..85540418-chr3:85548148..85554862,16	K562	blood:
39	chr3:85489023..85491028-chr3:85614972..85617090,2	K562	blood:
40	chr22:22050906..22053807-chr3:85561046..85562647,2	K562	blood:
41	chr3:85512384..85516287-chr3:85548853..85551591,3	K562	blood:
42	chr3:85527157..85529788-chr3:85532322..85535724,4	K562	blood:
43	chr3:85616525..85619382-chr3:85621735..85623491,2	K562	blood:
44	chr3:85461933..85464830-chr3:85550203..85551783,2	K562	blood:
45	chr3:85503980..85505718-chr3:85553016..85554877,2	K562	blood:
46	chr3:85582405..85584379-chr3:85589105..85591498,2	K562	blood:
47	chr3:85522112..85524399-chr3:85525908..85528436,3	K562	blood:
48	chr3:85510863..85513429-chr3:85513950..85516943,2	MCF-7	breast:
49	chr3:85582405..85584379-chr3:85589105..85591498,2	K562	blood:
50	chr3:85513919..85516830-chr3:85552866..85555627,2	K562	blood:

No data

Extended variants
information (count: 4719 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:4719 , 50 per page) page: 1 2 3 4 5 6 7 ... 95

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561844011	chr3:85503802-85503803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183177589	chr3:85503818-85503819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529376081	chr3:85503929-85503930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188253903	chr3:85503974-85503975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566347418	chr3:85503980-85503981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534068947	chr3:85503990-85503991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs199732802	chr3:85503997-85503998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145394945	chr3:85503999-85504000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs60759992	chr3:85504000-85504001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552193797	chr3:85504030-85504031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192188902	chr3:85504032-85504033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376751151	chr3:85504048-85504049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs55747506	chr3:85504075-85504076	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs74538517	chr3:85504087-85504088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574561991	chr3:85504128-85504129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184400845	chr3:85504214-85504215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146442207	chr3:85504219-85504220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376946540	chr3:85504275-85504276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77090706	chr3:85504279-85504280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111657932	chr3:85504327-85504328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546436741	chr3:85504334-85504335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564615339	chr3:85504393-85504394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2117153	chr3:85504452-85504453	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs72907295	chr3:85504479-85504480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373801743	chr3:85504487-85504488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561782279	chr3:85504492-85504493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529315727	chr3:85504494-85504495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547509088	chr3:85504495-85504496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559871966	chr3:85504532-85504533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549057712	chr3:85504567-85504568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189545747	chr3:85504613-85504614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192601757	chr3:85504645-85504646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184840215	chr3:85504651-85504652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555859815	chr3:85504662-85504663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375150449	chr3:85504668-85504669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549785945	chr3:85504718-85504719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368482130	chr3:85504726-85504727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141805487	chr3:85504727-85504728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553907694	chr3:85504799-85504800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189328211	chr3:85504804-85504805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539642159	chr3:85504855-85504856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558360290	chr3:85504873-85504874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576647763	chr3:85504928-85504929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs62250709	chr3:85504932-85504933	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs561720914	chr3:85504941-85504942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1433714	chr3:85504949-85504950	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs147115860	chr3:85504969-85504970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1433713	chr3:85504982-85504983	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs373438789	chr3:85505000-85505001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs180868710	chr3:85505021-85505022	Enhancers	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:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85503800-85504000	Enhancers	Brain Anterior Caudate	brain
2	chr3:85503800-85504800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:85504000-85504600	Weak transcription	Brain Anterior Caudate	brain
4	chr3:85504600-85505000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr3:85504600-85505000	Enhancers	Brain Germinal Matrix	brain
6	chr3:85504600-85505400	Enhancers	Brain Anterior Caudate	brain
7	chr3:85504800-85505000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:85504800-85505200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:85507200-85507800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:85507600-85508000	Enhancers	Brain Substantia Nigra	brain
11	chr3:85507800-85512200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:85508200-85509200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr3:85508400-85508600	Enhancers	Psoas Muscle	Psoas
14	chr3:85508600-85509800	Weak transcription	Psoas Muscle	Psoas
15	chr3:85509800-85510000	Enhancers	Psoas Muscle	Psoas
16	chr3:85510000-85510200	Weak transcription	Psoas Muscle	Psoas
17	chr3:85512000-85512600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr3:85512000-85512600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr3:85512200-85512600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:85512200-85512600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr3:85512200-85513000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:85512600-85522400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr3:85513000-85526000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:85517400-85518200	Enhancers	K562	blood
25	chr3:85519200-85536800	Weak transcription	Fetal Brain Male	brain
26	chr3:85519400-85519600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:85519800-85520400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:85520400-85520600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:85520600-85522000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:85521800-85522600	Enhancers	Brain Anterior Caudate	brain
31	chr3:85521800-85523000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr3:85522000-85522200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr3:85522200-85522800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr3:85522400-85522600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr3:85522400-85522600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:85522400-85522600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr3:85522600-85523400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr3:85522600-85530600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr3:85522800-85523800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr3:85523000-85523400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr3:85523400-85523600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr3:85523400-85523600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr3:85523600-85524800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr3:85523600-85530600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr3:85524400-85525200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr3:85525200-85525400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr3:85525200-85527600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr3:85525200-85530600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr3:85525800-85526800	Enhancers	Brain Hippocampus Middle	brain
50	chr3:85525800-85527000	Enhancers	Fetal Heart	heart

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