Variant report

Variant	nsv878135
Chromosome Location	chr3:194713365-194752416
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:61)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:194721395..194723219-chr3:194825772..194828111,2	MCF-7	breast:
2	chr3:194744470..194746779-chr3:194746928..194749603,2	MCF-7	breast:
3	chr3:194726570..194728758-chr3:194750789..194753669,2	MCF-7	breast:
4	chr3:194716221..194718660-chr3:194720742..194722607,2	K562	blood:
5	chr3:194707624..194709847-chr3:194714034..194716022,2	K562	blood:
6	chr3:194722821..194724530-chr3:194751580..194754330,2	MCF-7	breast:
7	chr3:194741422..194743280-chr3:194745297..194747859,2	K562	blood:
8	chr3:194746504..194748547-chr3:194752743..194755269,2	K562	blood:
9	chr3:194721567..194724270-chr3:194750727..194753633,2	MCF-7	breast:
10	chr3:194721087..194723630-chr3:194980904..194982475,2	K562	blood:
11	chr3:194722187..194723391-chr3:194980026..194981248,5	MCF-7	breast:
12	chr3:194721567..194724270-chr3:194750727..194753633,2	MCF-7	breast:
13	chr3:194725745..194726464-chr3:194755646..194756245,2	MCF-7	breast:
14	chr3:194712425..194714081-chr3:194717005..194719485,2	K562	blood:
15	chr3:194714961..194718222-chr3:194721497..194724727,5	MCF-7	breast:
16	chr3:194743617..194746233-chr3:194750138..194753272,4	MCF-7	breast:
17	chr3:194739030..194740877-chr3:194744527..194746742,2	MCF-7	breast:
18	chr3:194735046..194736581-chr3:194820848..194823359,2	K562	blood:
19	chr3:194732022..194734076-chr3:194734422..194737085,2	MCF-7	breast:
20	chr3:194716999..194719282-chr3:194725085..194729061,3	K562	blood:
21	chr3:194712172..194714836-chr3:194721386..194723530,2	MCF-7	breast:
22	chr3:194741668..194744125-chr3:194750157..194752849,2	MCF-7	breast:
23	chr3:194730788..194732405-chr3:194733883..194735617,2	K562	blood:
24	chr3:194751187..194751893-chr3:194814811..194815630,2	MCF-7	breast:
25	chr3:194722573..194723313-chr3:194755798..194756642,2	MCF-7	breast:
26	chr3:194734675..194736439-chr3:194738293..194741163,2	MCF-7	breast:
27	chr3:194726570..194728758-chr3:194750789..194753669,2	MCF-7	breast:
28	chr3:194741668..194744125-chr3:194750157..194752849,2	MCF-7	breast:
29	chr3:194403221..194403740-chr3:194735487..194736187,2	K562	blood:
30	chr3:194392011..194394284-chr3:194750847..194752878,2	MCF-7	breast:
31	chr3:194392220..194394645-chr3:194737415..194739749,2	MCF-7	breast:
32	chr3:194752192..194752969-chr3:194814673..194815542,2	MCF-7	breast:
33	chr3:194741422..194743280-chr3:194745297..194747859,2	K562	blood:
34	chr3:194734675..194736439-chr3:194738293..194741163,2	MCF-7	breast:
35	chr3:194722310..194723268-chr3:194826858..194827831,7	MCF-7	breast:
36	chr3:194705348..194706855-chr3:194714093..194716787,2	MCF-7	breast:
37	chr3:194750351..194753020-chr3:194825090..194827323,3	MCF-7	breast:
38	chr3:194722413..194723041-chr3:194755681..194756360,2	MCF-7	breast:
39	chr3:194705134..194707811-chr3:194720716..194722362,2	MCF-7	breast:
40	chr3:194722821..194724530-chr3:194751580..194754330,2	MCF-7	breast:
41	chr3:194716999..194719282-chr3:194725085..194729061,3	K562	blood:
42	chr3:194406182..194407960-chr3:194721459..194723378,2	MCF-7	breast:
43	chr3:194716221..194718660-chr3:194720742..194722607,2	K562	blood:
44	chr3:194743617..194746233-chr3:194750138..194753272,4	MCF-7	breast:
45	chr3:194725498..194726699-chr3:194826761..194827799,4	MCF-7	breast:
46	chr3:194721300..194723705-chr3:194980031..194982782,2	MCF-7	breast:
47	chr3:194750132..194752795-chr3:194825393..194827376,2	MCF-7	breast:
48	chr3:194746454..194748819-chr3:194753733..194755578,3	K562	blood:
49	chr3:194730788..194732405-chr3:194733883..194735617,2	K562	blood:
50	chr3:194734225..194736961-chr3:194737852..194739538,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233303	chromatin interactions
ENSG00000173950	chromatin interactions
ENSG00000185112	chromatin interactions
ENSG00000041802	chromatin interactions

Extended variants
information (count: 1768 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1768 , 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	rs2676914	chr3:194713365-194713366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs527947298	chr3:194713381-194713382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181807058	chr3:194713412-194713413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142680544	chr3:194713413-194713414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71317932	chr3:194713417-194713418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531983176	chr3:194713430-194713431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35764458	chr3:194713525-194713526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550674776	chr3:194713544-194713545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202229519	chr3:194713608-194713609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568944148	chr3:194713627-194713628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76447138	chr3:194713652-194713653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536366688	chr3:194713659-194713660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554507437	chr3:194713676-194713677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150745521	chr3:194713681-194713682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185161090	chr3:194713683-194713684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573881637	chr3:194713706-194713707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59168288	chr3:194713726-194713727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs576614554	chr3:194713729-194713730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537680828	chr3:194713745-194713746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149902114	chr3:194713764-194713765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs386669993	chr3:194713767-194713768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565265947	chr3:194713769-194713770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58310701	chr3:194713774-194713775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs386669994	chr3:194713775-194713776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs386669995	chr3:194713777-194713778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11716442	chr3:194713778-194713779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs572396959	chr3:194713787-194713788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs386669996	chr3:194713793-194713794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376962173	chr3:194713799-194713800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546467526	chr3:194713822-194713823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369093721	chr3:194713845-194713846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532065450	chr3:194713862-194713863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550362604	chr3:194713863-194713864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562274928	chr3:194713866-194713867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190645320	chr3:194713872-194713873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376894519	chr3:194713882-194713883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527976772	chr3:194713901-194713902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371694109	chr3:194713927-194713928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183306089	chr3:194713945-194713946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115628089	chr3:194713961-194713962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570387882	chr3:194713993-194713994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537765709	chr3:194714007-194714008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555901584	chr3:194714013-194714014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7624447	chr3:194714092-194714093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs59676659	chr3:194714093-194714094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187798685	chr3:194714103-194714104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554015202	chr3:194714150-194714151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59524354	chr3:194714154-194714155	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs191412870	chr3:194714178-194714179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545849611	chr3:194714192-194714193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194707800-194714600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:194707800-194714800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:194708400-194714600	Weak transcription	HMEC	breast
4	chr3:194710000-194714800	Weak transcription	Esophagus	oesophagus
5	chr3:194714600-194714800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr3:194714600-194714800	Enhancers	HMEC	breast
7	chr3:194714600-194715000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr3:194714600-194715800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:194714800-194715000	Enhancers	Esophagus	oesophagus
10	chr3:194714800-194715800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:194715200-194717000	Enhancers	Fetal Intestine Large	intestine
12	chr3:194715200-194717000	Enhancers	Fetal Intestine Small	intestine
13	chr3:194715200-194717200	Enhancers	HepG2	liver
14	chr3:194715800-194721800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:194715800-194722000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:194717000-194717200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
17	chr3:194718400-194719600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr3:194718800-194719600	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr3:194719000-194719200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr3:194719200-194720200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr3:194719600-194722200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr3:194719600-194722200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr3:194720200-194721800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr3:194721600-194721800	Enhancers	NHEK	skin
25	chr3:194721800-194722200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr3:194721800-194722800	Weak transcription	NHEK	skin
27	chr3:194721800-194723400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:194722000-194722200	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr3:194722000-194723000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:194722000-194723400	Enhancers	HSMMtube	muscle
31	chr3:194722000-194723600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr3:194722000-194723800	Enhancers	Fetal Muscle Trunk	muscle
33	chr3:194722000-194724200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr3:194722000-194724600	Enhancers	Brain Germinal Matrix	brain
35	chr3:194722000-194724600	Enhancers	Placenta	Placenta
36	chr3:194722000-194724800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr3:194722000-194725000	Enhancers	Esophagus	oesophagus
38	chr3:194722200-194722600	Enhancers	Hela-S3	cervix
39	chr3:194722200-194723000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:194722200-194723400	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr3:194722200-194723800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr3:194722200-194724800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr3:194722200-194724800	Enhancers	Fetal Muscle Leg	muscle
44	chr3:194722200-194725800	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr3:194722400-194723000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr3:194722400-194723600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:194722400-194723800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr3:194722400-194724000	Bivalent Enhancer	HepG2	liver
49	chr3:194722400-194724400	Enhancers	Fetal Stomach	stomach
50	chr3:194722400-194724800	Enhancers	Adipose Nuclei	Adipose

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