Variant report

Variant	nsv877338
Chromosome Location	chr3:110824425-110860188
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:110850483..110852272-chr3:110853900..110855998,2	K562	blood:
2	chr3:110850049..110852272-chr3:110854262..110855998,2	K562	blood:
3	chr3:110856185..110858816-chr3:110868086..110870660,2	MCF-7	breast:
4	chr3:110850483..110852272-chr3:110853900..110855998,2	K562	blood:
5	chr3:110850049..110852272-chr3:110854262..110855998,2	K562	blood:
6	chr20:55840210..55842234-chr3:110843254..110844817,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD96-5	chr3:110830857-110830964	NONHSAT091142

No data

Variant related genes	Relation type
ENSG00000101144	chromatin interactions
ENSG00000226308	chromatin interactions

Extended variants
information (count: 1257 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1257 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2126713	chr3:110824425-110824426	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150728703	chr3:110824494-110824495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181543861	chr3:110824495-110824496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569806263	chr3:110824520-110824521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185870550	chr3:110824554-110824555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551419899	chr3:110824558-110824559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571345508	chr3:110824559-110824560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72937908	chr3:110824605-110824606	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs548097989	chr3:110824620-110824621	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs567847260	chr3:110824635-110824636	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs75438797	chr3:110824636-110824637	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs555029617	chr3:110824654-110824655	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs546358123	chr3:110824668-110824669	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs576670258	chr3:110824704-110824705	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs538780054	chr3:110824786-110824787	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs558284453	chr3:110824830-110824831	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs571365559	chr3:110824847-110824848	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs73854904	chr3:110824919-110824920	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs572098880	chr3:110824946-110824947	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs189936506	chr3:110824956-110824957	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs374440654	chr3:110824997-110824998	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs560906509	chr3:110825009-110825010	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs376655056	chr3:110825053-110825054	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs182571823	chr3:110825074-110825075	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs1477845	chr3:110825092-110825093	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs528242442	chr3:110825169-110825170	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs543656868	chr3:110825184-110825185	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs188102940	chr3:110825189-110825190	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs190976927	chr3:110825249-110825250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551504312	chr3:110825292-110825293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565014086	chr3:110825295-110825296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113573193	chr3:110825399-110825400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368792417	chr3:110825536-110825537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547488650	chr3:110825552-110825553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540075466	chr3:110825761-110825762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182737546	chr3:110825823-110825824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189049789	chr3:110825881-110825882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570310693	chr3:110825893-110825894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539213477	chr3:110825895-110825896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558722461	chr3:110825938-110825939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572190054	chr3:110825960-110825961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201893623	chr3:110825968-110825969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192531793	chr3:110825977-110825978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554273363	chr3:110825978-110825979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574333189	chr3:110825998-110825999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543390737	chr3:110826001-110826002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563237273	chr3:110826002-110826003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114040401	chr3:110826018-110826019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545578226	chr3:110826019-110826020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529207079	chr3:110826036-110826037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:418 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110805000-110833600	Weak transcription	NHDF-Ad	bronchial
2	chr3:110816000-110827200	Weak transcription	Ovary	ovary
3	chr3:110816000-110837600	Weak transcription	Fetal Stomach	stomach
4	chr3:110816000-110873800	Weak transcription	Left Ventricle	heart
5	chr3:110816000-110893400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:110817400-110855200	Weak transcription	Pancreas	Pancrea
7	chr3:110817600-110837600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:110818600-110824600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:110819200-110857200	Weak transcription	NHLF	lung
10	chr3:110820000-110827400	Weak transcription	Small Intestine	intestine
11	chr3:110822800-110826400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:110823400-110825800	Weak transcription	Liver	Liver
13	chr3:110823400-110826200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:110823400-110826200	Weak transcription	Fetal Lung	lung
15	chr3:110823400-110827600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:110823400-110838000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:110823400-110838000	Weak transcription	Fetal Intestine Small	intestine
18	chr3:110824200-110825800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr3:110824200-110826400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:110824200-110826600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr3:110824200-110827600	Enhancers	Dnd41	blood
22	chr3:110824200-110828200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr3:110824200-110832200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr3:110824400-110826800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr3:110824400-110827800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr3:110824600-110825000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:110824600-110825200	ZNF genes & repeats	Psoas Muscle	Psoas
28	chr3:110824600-110826600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr3:110824800-110825000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr3:110825000-110825200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr3:110825000-110825600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr3:110825000-110825800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr3:110825000-110826800	Enhancers	A549	lung
34	chr3:110825200-110827400	Weak transcription	Psoas Muscle	Psoas
35	chr3:110825200-110827600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:110825600-110826600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr3:110825600-110826600	Enhancers	HepG2	liver
38	chr3:110825800-110826000	Enhancers	Liver	Liver
39	chr3:110825800-110826400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:110825800-110827200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr3:110825800-110827400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr3:110826000-110826600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:110826000-110826600	Weak transcription	Liver	Liver
44	chr3:110826200-110826600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:110826200-110826800	Enhancers	Fetal Lung	lung
46	chr3:110826200-110827000	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr3:110826400-110826600	Enhancers	Colon Smooth Muscle	Colon
48	chr3:110826400-110826800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:110826400-110830400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:110826600-110826800	Enhancers	Liver	Liver

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