Variant report

Variant	nsv877164
Chromosome Location	chr3:94018657-94146460
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

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

No data

Extended variants
information (count: 3218 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:3218 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13086346	chr3:94018657-94018658	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556399571	chr3:94018716-94018717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4241463	chr3:94018746-94018747	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs187264405	chr3:94018767-94018768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555718807	chr3:94018813-94018814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191766545	chr3:94018858-94018859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183949685	chr3:94018894-94018895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375975352	chr3:94018971-94018972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556479943	chr3:94018989-94018990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368590533	chr3:94018990-94018991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369630048	chr3:94018997-94018998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150912968	chr3:94019006-94019007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139410098	chr3:94019022-94019023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563580807	chr3:94019028-94019029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188331309	chr3:94019043-94019044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180694024	chr3:94019068-94019069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561842993	chr3:94019081-94019082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185785187	chr3:94019147-94019148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547379706	chr3:94019182-94019183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570610590	chr3:94019194-94019195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112446882	chr3:94019195-94019196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549994078	chr3:94019274-94019275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11924976	chr3:94019277-94019278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs535666071	chr3:94019281-94019282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190250386	chr3:94019282-94019283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566172592	chr3:94019298-94019299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534661780	chr3:94019321-94019322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77363113	chr3:94019378-94019379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78795900	chr3:94019387-94019388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112585342	chr3:94019401-94019402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557109781	chr3:94019403-94019404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117416965	chr3:94019429-94019430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144203665	chr3:94019437-94019438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561588698	chr3:94019501-94019502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527385483	chr3:94019502-94019503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546119479	chr3:94019513-94019514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540669190	chr3:94019515-94019516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564150699	chr3:94019537-94019538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533251555	chr3:94019579-94019580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113562930	chr3:94019642-94019643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550130246	chr3:94019655-94019656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9883747	chr3:94019656-94019657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531888279	chr3:94019687-94019688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182122344	chr3:94019755-94019756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566036736	chr3:94019768-94019769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535158192	chr3:94019802-94019803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372326070	chr3:94019803-94019804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11324549	chr3:94019812-94019813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571335171	chr3:94019814-94019815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143663366	chr3:94019858-94019859	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:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94014000-94020400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:94014400-94020200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:94017800-94018800	Enhancers	Fetal Intestine Large	intestine
4	chr3:94018800-94021800	Weak transcription	Fetal Intestine Large	intestine
5	chr3:94020200-94020400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:94020200-94020600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:94020200-94020800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:94020400-94020600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:94020400-94020800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:94020600-94022000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:94020600-94022400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:94020600-94023000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr3:94020800-94022000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:94020800-94022400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:94021800-94022800	Enhancers	Fetal Intestine Large	intestine
16	chr3:94022000-94022400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:94022000-94023800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:94022200-94026000	Enhancers	Fetal Heart	heart
19	chr3:94022400-94022800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:94022400-94022800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
21	chr3:94022400-94023400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:94022400-94024000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:94022400-94024000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:94022400-94025000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr3:94022400-94026000	Enhancers	Adipose Nuclei	Adipose
26	chr3:94022600-94022800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:94022600-94022800	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr3:94022600-94022800	Enhancers	Placenta	Placenta
29	chr3:94022600-94023000	Enhancers	Left Ventricle	heart
30	chr3:94022600-94023200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr3:94022600-94023200	Enhancers	Brain Angular Gyrus	brain
32	chr3:94022600-94024200	Enhancers	Stomach Smooth Muscle	stomach
33	chr3:94022600-94025200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr3:94022600-94025600	Enhancers	Rectal Smooth Muscle	rectum
35	chr3:94022600-94026000	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr3:94022800-94023200	Enhancers	Brain Hippocampus Middle	brain
37	chr3:94022800-94023400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:94022800-94023800	Enhancers	Aorta	Aorta
39	chr3:94022800-94023800	Weak transcription	Fetal Intestine Large	intestine
40	chr3:94022800-94024000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:94022800-94024000	Enhancers	Fetal Muscle Leg	muscle
42	chr3:94022800-94024000	Enhancers	Ovary	ovary
43	chr3:94022800-94024600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:94022800-94024600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr3:94022800-94025000	Enhancers	Fetal Lung	lung
46	chr3:94022800-94025000	Weak transcription	Placenta	Placenta
47	chr3:94022800-94025800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr3:94022800-94026000	Enhancers	Fetal Stomach	stomach
49	chr3:94023000-94023200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr3:94023000-94023400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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