Variant report

Variant	nsv997698
Chromosome Location	chr3:94030474-94212738
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:94050592..94052105-chr3:94053933..94055810,2	MCF-7	breast:
2	chr3:94206515..94208478-chr3:94210074..94211921,2	K562	blood:
3	chr3:94054939..94055798-chr3:96531581..96532532,3	MCF-7	breast:
4	chr3:94050592..94052105-chr3:94053933..94055810,2	MCF-7	breast:
5	chr3:94054789..94056012-chr3:94435236..94436188,3	MCF-7	breast:
6	chr3:94022598..94023133-chr3:94054865..94055827,3	MCF-7	breast:
7	chr3:94055434..94057546-chr3:94059331..94061836,2	K562	blood:
8	chr3:94173336..94175546-chr3:94179505..94181899,2	MCF-7	breast:
9	chr3:94021756..94024781-chr3:94027774..94031096,3	MCF-7	breast:
10	chr3:94054837..94055425-chr3:94267883..94268644,2	MCF-7	breast:
11	chr3:94210684..94213221-chr3:94300303..94302225,2	MCF-7	breast:
12	chr3:93967931..93968992-chr3:94054603..94055377,6	MCF-7	breast:
13	chr3:94055434..94057546-chr3:94059331..94061836,2	K562	blood:
14	chr3:94173336..94175546-chr3:94179505..94181899,2	MCF-7	breast:
15	chr3:94054880..94055822-chr3:94435163..94435841,3	MCF-7	breast:
16	chr3:94206515..94208478-chr3:94210074..94211921,2	K562	blood:

No data

Extended variants
information (count: 4914 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:4914 , 50 per page) page: 1 2 3 4 5 6 7 ... 99

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529085781	chr3:94030558-94030559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141059806	chr3:94030564-94030565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570757820	chr3:94030666-94030667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10511147	chr3:94030669-94030670	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs190982367	chr3:94030694-94030695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554323874	chr3:94030787-94030788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577281872	chr3:94030846-94030847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181697075	chr3:94030873-94030874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556539163	chr3:94030875-94030876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576711725	chr3:94030954-94030955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186752921	chr3:94030969-94030970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191592104	chr3:94030980-94030981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529724412	chr3:94031010-94031011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562885417	chr3:94031021-94031022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539904526	chr3:94031054-94031055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552996623	chr3:94031055-94031056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373957585	chr3:94031080-94031081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9847884	chr3:94031084-94031085	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs35973758	chr3:94031188-94031189	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs552194510	chr3:94031297-94031298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73848025	chr3:94031318-94031319	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs145107910	chr3:94031319-94031320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188144002	chr3:94031357-94031358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189765383	chr3:94031392-94031393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557431946	chr3:94031393-94031394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527957138	chr3:94031428-94031429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549964313	chr3:94031451-94031452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568228808	chr3:94031477-94031478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13061054	chr3:94031509-94031510	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs546395732	chr3:94031640-94031641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576992954	chr3:94031680-94031681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574790829	chr3:94031696-94031697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554262620	chr3:94031736-94031737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139038230	chr3:94031742-94031743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539441487	chr3:94031783-94031784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375946615	chr3:94031819-94031820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs386663398	chr3:94031830-94031831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13073568	chr3:94031839-94031840	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs182139879	chr3:94031861-94031862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187865750	chr3:94031905-94031906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572274154	chr3:94031928-94031929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562327167	chr3:94031958-94031959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192478501	chr3:94031985-94031986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138123242	chr3:94031994-94031995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576577840	chr3:94031997-94031998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545461856	chr3:94032000-94032001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185446606	chr3:94032001-94032002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541432063	chr3:94032088-94032089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149558333	chr3:94032164-94032165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548436911	chr3:94032205-94032206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:408 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94025600-94030600	Weak transcription	Fetal Lung	lung
2	chr3:94028200-94031000	Weak transcription	Fetal Intestine Large	intestine
3	chr3:94029400-94030800	Enhancers	Colon Smooth Muscle	Colon
4	chr3:94030000-94031000	Enhancers	Rectal Smooth Muscle	rectum
5	chr3:94030200-94031200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr3:94030200-94031200	Enhancers	Brain Anterior Caudate	brain
7	chr3:94030400-94031000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr3:94030400-94035000	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:94030600-94030800	Enhancers	Fetal Lung	lung
10	chr3:94030800-94033600	Weak transcription	Fetal Lung	lung
11	chr3:94031000-94031800	Enhancers	Fetal Intestine Large	intestine
12	chr3:94031000-94033400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr3:94031200-94035600	Weak transcription	Brain Anterior Caudate	brain
14	chr3:94033400-94033800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr3:94033600-94034400	Enhancers	Fetal Lung	lung
16	chr3:94034800-94035000	Enhancers	Brain Cingulate Gyrus	brain
17	chr3:94034800-94036400	Enhancers	Brain Substantia Nigra	brain
18	chr3:94035000-94036000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr3:94035000-94036600	Enhancers	Brain Hippocampus Middle	brain
20	chr3:94035600-94036800	Enhancers	Brain Anterior Caudate	brain
21	chr3:94035800-94036200	Enhancers	Brain Angular Gyrus	brain
22	chr3:94036000-94036600	Enhancers	Brain Cingulate Gyrus	brain
23	chr3:94038200-94039200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr3:94038400-94039200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:94039200-94042400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:94041600-94042000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:94042200-94043000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:94042400-94043000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:94047200-94047400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:94047400-94050600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:94050600-94051000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:94050800-94051000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:94052000-94052800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:94052800-94053200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:94053200-94054000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:94054800-94055200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr3:94055000-94055400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr3:94055000-94055400	Enhancers	Fetal Lung	lung
39	chr3:94063800-94064200	ZNF genes & repeats	Aorta	Aorta
40	chr3:94064600-94064800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr3:94064600-94066200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr3:94065000-94066600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:94065400-94066400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr3:94065400-94066800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr3:94065600-94066400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr3:94065600-94066600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr3:94065600-94066800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr3:94065800-94066200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr3:94065800-94066200	Enhancers	H9 Cell Line	embryonic stem cell
50	chr3:94066000-94066800	Enhancers	H1 Cell Line	embryonic stem cell

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