Variant report

Variant	nsv590988
Chromosome Location	chr3:94384332-94596072
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:94388694..94391363-chr3:94392132..94394080,2	K562	blood:
2	chr3:94525826..94528541-chr3:94529089..94531852,2	K562	blood:
3	chr3:14789975..14790495-chr3:94581323..94581855,2	MCF-7	breast:
4	chr3:94241478..94242035-chr3:94435189..94435701,2	MCF-7	breast:
5	chr3:94529128..94531189-chr3:94544772..94547073,2	MCF-7	breast:
6	chr3:94525826..94528541-chr3:94529089..94531852,2	K562	blood:
7	chr3:94474207..94475798-chr3:94476366..94479131,2	MCF-7	breast:
8	chr3:94439046..94442028-chr3:94450258..94451918,2	K562	blood:
9	chr3:94504783..94506940-chr3:94507538..94510163,2	MCF-7	breast:
10	chr3:94474207..94475798-chr3:94476366..94479131,2	MCF-7	breast:
11	chr3:94439046..94442028-chr3:94450258..94451918,2	K562	blood:
12	chr3:94412407..94415278-chr3:94416846..94418466,2	MCF-7	breast:
13	chr3:94529128..94531189-chr3:94544772..94547073,2	MCF-7	breast:
14	chr3:94504783..94506940-chr3:94507538..94510163,2	MCF-7	breast:
15	chr3:94381842..94384742-chr3:94386327..94389293,2	K562	blood:
16	chr3:94412407..94415278-chr3:94416846..94418466,2	MCF-7	breast:
17	chr3:94381842..94384742-chr3:94386327..94389293,2	K562	blood:
18	chr3:94054789..94056012-chr3:94435236..94436188,3	MCF-7	breast:
19	chr3:94243618..94244324-chr3:94435214..94436130,5	MCF-7	breast:
20	chr3:94054880..94055822-chr3:94435163..94435841,3	MCF-7	breast:
21	chr3:94591956..94593970-chr3:94609551..94611709,2	MCF-7	breast:
22	chr3:94243814..94244533-chr3:94435293..94436192,2	MCF-7	breast:
23	chr3:94388694..94391363-chr3:94392132..94394080,2	K562	blood:

No data

Extended variants
information (count: 1494 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1494 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6762510	chr3:94384332-94384333	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574209522	chr3:94384365-94384366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183944325	chr3:94384407-94384408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553285186	chr3:94384420-94384421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35302235	chr3:94384448-94384449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs397874721	chr3:94384455-94384456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs55709411	chr3:94384463-94384464	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs187273638	chr3:94384471-94384472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563770768	chr3:94384510-94384511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190874702	chr3:94384513-94384514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543018795	chr3:94384536-94384537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182588821	chr3:94384538-94384539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529130737	chr3:94384544-94384545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549207047	chr3:94384626-94384627	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559579145	chr3:94384660-94384661	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573762267	chr3:94384681-94384682	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528623456	chr3:94384719-94384720	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547506669	chr3:94384723-94384724	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186969843	chr3:94384724-94384725	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200928904	chr3:94384754-94384755	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537451687	chr3:94384853-94384854	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550651642	chr3:94384860-94384861	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567995172	chr3:94384864-94384865	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375986560	chr3:94384879-94384880	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368854880	chr3:94384891-94384892	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79731666	chr3:94384892-94384893	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536532281	chr3:94384924-94384925	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116204502	chr3:94384927-94384928	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573082734	chr3:94384998-94384999	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567665023	chr3:94385039-94385040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115025175	chr3:94385057-94385058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146264373	chr3:94385097-94385098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577281088	chr3:94385137-94385138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543410474	chr3:94385140-94385141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115231298	chr3:94385143-94385144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573919327	chr3:94385184-94385185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542542604	chr3:94385217-94385218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35894787	chr3:94385218-94385219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190207300	chr3:94385223-94385224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369313534	chr3:94385259-94385260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372322146	chr3:94385336-94385337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78819990	chr3:94385343-94385344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138107658	chr3:94385355-94385356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570225350	chr3:94385363-94385364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375874166	chr3:94387213-94387214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73846576	chr3:94387243-94387244	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs529841195	chr3:94387258-94387259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145433508	chr3:94387291-94387292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566540662	chr3:94387321-94387322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538649257	chr3:94387368-94387369	Enhancers	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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94384200-94384600	Enhancers	Rectal Mucosa Donor 29	rectum
2	chr3:94384200-94385400	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr3:94384600-94384800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
4	chr3:94384800-94385000	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr3:94387200-94388000	Enhancers	Fetal Intestine Large	intestine
6	chr3:94390000-94390400	Enhancers	A549	lung
7	chr3:94412200-94413000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr3:94413000-94413800	Enhancers	Ovary	ovary
9	chr3:94413400-94413800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:94413600-94414200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:94428200-94428800	Enhancers	Stomach Mucosa	stomach
12	chr3:94428200-94429000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:94433200-94433600	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr3:94435000-94435200	Enhancers	Liver	Liver
15	chr3:94435200-94435600	Flanking Active TSS	Liver	Liver
16	chr3:94435200-94435600	Enhancers	Fetal Intestine Large	intestine
17	chr3:94446800-94447200	Enhancers	Ovary	ovary
18	chr3:94447000-94447200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:94451800-94452200	Enhancers	Rectal Smooth Muscle	rectum
20	chr3:94452400-94452800	Enhancers	Hela-S3	cervix
21	chr3:94452800-94453000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:94452800-94454000	Weak transcription	Hela-S3	cervix
23	chr3:94454000-94454600	Enhancers	Hela-S3	cervix
24	chr3:94454200-94454600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:94454600-94455600	Weak transcription	Hela-S3	cervix
26	chr3:94455800-94456000	Enhancers	Hela-S3	cervix
27	chr3:94477200-94477600	Enhancers	Fetal Intestine Large	intestine
28	chr3:94477200-94478000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:94491200-94491800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr3:94506200-94507200	Enhancers	Fetal Brain Male	brain
31	chr3:94510000-94510600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:94529000-94529200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr3:94529600-94530600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:94530600-94531000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr3:94539600-94539800	Enhancers	Fetal Brain Female	brain
36	chr3:94539600-94540600	Enhancers	Fetal Brain Male	brain
37	chr3:94540000-94540600	Weak transcription	Fetal Brain Female	brain
38	chr3:94540600-94540800	Enhancers	Fetal Brain Female	brain
39	chr3:94540800-94541800	Weak transcription	Fetal Brain Female	brain
40	chr3:94542000-94542200	Enhancers	Fetal Brain Female	brain
41	chr3:94548200-94549200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:94564400-94564800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr3:94579200-94583400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:94582800-94584000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr3:94583000-94583800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
46	chr3:94583200-94583400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr3:94583200-94583600	ZNF genes & repeats	Adipose Nuclei	Adipose
48	chr3:94584000-94592800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:94585600-94586000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:94586000-94586400	Enhancers	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links