Variant report

Variant	nsv877311
Chromosome Location	chr3:105449986-105493286
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:105452868..105454661-chr3:105463117..105465166,2	K562	blood:
2	chr3:105452868..105454661-chr3:105463117..105465166,2	K562	blood:
3	chr3:105481713..105484437-chr7:147483253..147485905,2	MCF-7	breast:

Extended variants
information (count: 1659 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1659 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9880861	chr3:105449986-105449987	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543928129	chr3:105449988-105449989	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373919590	chr3:105450014-105450015	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565314053	chr3:105450040-105450041	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532380401	chr3:105450051-105450052	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368345365	chr3:105450086-105450087	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547692419	chr3:105450139-105450140	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79456363	chr3:105450177-105450178	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112053452	chr3:105450180-105450181	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114623615	chr3:105450227-105450228	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34896116	chr3:105450301-105450302	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs569504475	chr3:105450307-105450308	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536784448	chr3:105450377-105450378	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558286369	chr3:105450383-105450384	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139569382	chr3:105450456-105450457	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142871912	chr3:105450504-105450505	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12639271	chr3:105450512-105450513	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs534499481	chr3:105450551-105450552	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534286714	chr3:105450552-105450553	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554458623	chr3:105450585-105450586	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9862133	chr3:105450624-105450625	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191268383	chr3:105450684-105450685	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs16851534	chr3:105450689-105450690	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs576694657	chr3:105450747-105450748	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543962882	chr3:105450751-105450752	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555437080	chr3:105450772-105450773	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577184774	chr3:105450796-105450797	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73854393	chr3:105450799-105450800	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs559695450	chr3:105450811-105450812	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529983307	chr3:105450835-105450836	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548789882	chr3:105450916-105450917	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138283865	chr3:105450971-105450972	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563168339	chr3:105450972-105450973	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530588659	chr3:105451029-105451030	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141915481	chr3:105451042-105451043	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182775576	chr3:105451051-105451052	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs3836272	chr3:105451063-105451064	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs151262643	chr3:105451067-105451068	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370215349	chr3:105451069-105451070	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534616418	chr3:105451147-105451148	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546327909	chr3:105451171-105451172	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368651049	chr3:105451208-105451209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536580705	chr3:105451213-105451214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555279765	chr3:105451222-105451223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576733317	chr3:105451256-105451257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201535373	chr3:105451296-105451297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150641366	chr3:105451312-105451313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559104838	chr3:105451336-105451337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577312870	chr3:105451368-105451369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541505054	chr3:105451369-105451370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
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
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1438 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105375800-105464600	Weak transcription	Small Intestine	intestine
2	chr3:105378000-105455400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:105389200-105467200	Weak transcription	Stomach Mucosa	stomach
4	chr3:105407800-105457800	Weak transcription	HepG2	liver
5	chr3:105421200-105465400	Weak transcription	Colonic Mucosa	Colon
6	chr3:105432800-105463800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:105433600-105465600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:105434800-105463800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:105438800-105464000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr3:105438800-105465400	Weak transcription	Fetal Heart	heart
11	chr3:105439000-105450600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr3:105439000-105457800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr3:105439000-105461600	Weak transcription	Dnd41	blood
14	chr3:105439000-105464000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr3:105439000-105464200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr3:105439000-105465400	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:105439000-105465800	Weak transcription	NHLF	lung
18	chr3:105439000-105466200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr3:105439000-105466600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:105439000-105471200	Weak transcription	Fetal Thymus	thymus
21	chr3:105439000-105471400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr3:105439000-105471400	Weak transcription	HMEC	breast
23	chr3:105439000-105471600	Weak transcription	Fetal Brain Male	brain
24	chr3:105439000-105475800	Weak transcription	Esophagus	oesophagus
25	chr3:105439000-105477400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:105439000-105477400	Weak transcription	Lung	lung
27	chr3:105439000-105477400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr3:105439200-105450400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr3:105439200-105450600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr3:105439200-105452200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr3:105439200-105457800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:105439200-105457800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:105439200-105457800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr3:105439200-105457800	Weak transcription	Liver	Liver
35	chr3:105439200-105457800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr3:105439200-105457800	Weak transcription	Pancreas	Pancrea
37	chr3:105439200-105458200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr3:105439200-105463400	Weak transcription	Fetal Stomach	stomach
39	chr3:105439200-105464600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:105439200-105464600	Weak transcription	HUVEC	blood vessel
41	chr3:105439200-105465200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr3:105439200-105465400	Weak transcription	Ovary	ovary
43	chr3:105439200-105465400	Weak transcription	Psoas Muscle	Psoas
44	chr3:105439200-105465600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr3:105439200-105465600	Weak transcription	Right Ventricle	heart
46	chr3:105439200-105465600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr3:105439200-105477200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr3:105439600-105465200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr3:105439800-105464000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr3:105442000-105450800	Weak transcription	Primary B cells from peripheral blood	blood

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