Variant report

Variant	nsv1008308
Chromosome Location	chr3:110836281-110885834
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:110883743..110885701-chr3:110894803..110897191,2	MCF-7	breast:
2	chr3:110862872..110864507-chr3:110866291..110867830,2	K562	blood:
3	chr3:110856185..110858816-chr3:110868086..110870660,2	MCF-7	breast:
4	chr3:110862872..110864507-chr3:110866291..110867830,2	K562	blood:
5	chr3:110850483..110852272-chr3:110853900..110855998,2	K562	blood:
6	chr3:110850483..110852272-chr3:110853900..110855998,2	K562	blood:
7	chr20:55840210..55842234-chr3:110843254..110844817,2	MCF-7	breast:
8	chr3:110850049..110852272-chr3:110854262..110855998,2	K562	blood:
9	chr3:110850049..110852272-chr3:110854262..110855998,2	K562	blood:
10	chr3:110856185..110858816-chr3:110868086..110870660,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101144	chromatin interactions
ENSG00000226308	chromatin interactions

Extended variants
information (count: 1690 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1690 , 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	rs9866028	chr3:110836281-110836282	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570870422	chr3:110836329-110836330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539893687	chr3:110836341-110836342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185148683	chr3:110836345-110836346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546679715	chr3:110836350-110836351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78157313	chr3:110836355-110836356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190078120	chr3:110836357-110836358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182092005	chr3:110836367-110836368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575468325	chr3:110836400-110836401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184105587	chr3:110836407-110836408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558304709	chr3:110836433-110836434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577669274	chr3:110836458-110836459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540285274	chr3:110836482-110836483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141976518	chr3:110836496-110836497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573672766	chr3:110836503-110836504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567398272	chr3:110836548-110836549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542968294	chr3:110836559-110836560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375811410	chr3:110836621-110836622	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537979377	chr3:110836629-110836630	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543612905	chr3:110836633-110836634	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536683090	chr3:110836698-110836699	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562754342	chr3:110836720-110836721	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539677674	chr3:110836734-110836735	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79642093	chr3:110836735-110836736	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115118703	chr3:110836769-110836770	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565044197	chr3:110836783-110836784	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555940241	chr3:110836798-110836799	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188834368	chr3:110836812-110836813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180865558	chr3:110836834-110836835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79584988	chr3:110836903-110836904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571064672	chr3:110836945-110836946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12489409	chr3:110836998-110836999	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs142564184	chr3:110837028-110837029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567865734	chr3:110837066-110837067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34878535	chr3:110837095-110837096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368317946	chr3:110837096-110837097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58859009	chr3:110837119-110837120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57417275	chr3:110837129-110837130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71131953	chr3:110837130-110837131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535443396	chr3:110837131-110837132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140204562	chr3:110837184-110837185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538457645	chr3:110837199-110837200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71315863	chr3:110837200-110837201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370680934	chr3:110837204-110837205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs55761850	chr3:110837216-110837217	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs559374795	chr3:110837221-110837222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71315864	chr3:110837245-110837246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143574585	chr3:110837263-110837264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192117123	chr3:110837269-110837270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533699592	chr3:110837354-110837355	Weak transcription Strong transcription	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:473 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110816000-110837600	Weak transcription	Fetal Stomach	stomach
2	chr3:110816000-110873800	Weak transcription	Left Ventricle	heart
3	chr3:110816000-110893400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:110817400-110855200	Weak transcription	Pancreas	Pancrea
5	chr3:110817600-110837600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:110819200-110857200	Weak transcription	NHLF	lung
7	chr3:110823400-110838000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:110823400-110838000	Weak transcription	Fetal Intestine Small	intestine
9	chr3:110826600-110845000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:110826800-110847600	Weak transcription	A549	lung
11	chr3:110826800-110884200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:110827000-110847400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr3:110827600-110842200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:110827800-110849200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr3:110828000-110837200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:110828000-110851400	Weak transcription	Aorta	Aorta
17	chr3:110829400-110893400	Weak transcription	HUVEC	blood vessel
18	chr3:110829600-110837600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:110830400-110852800	Weak transcription	NH-A	brain
20	chr3:110830600-110854200	Weak transcription	Right Ventricle	heart
21	chr3:110830800-110836800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr3:110830800-110837600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr3:110830800-110837600	Weak transcription	Fetal Intestine Large	intestine
24	chr3:110830800-110852400	Weak transcription	Fetal Brain Male	brain
25	chr3:110830800-110853800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr3:110831200-110837800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr3:110831600-110844000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:110831800-110842200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr3:110832000-110840400	Weak transcription	HSMM	muscle
30	chr3:110832000-110840800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr3:110832000-110854600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr3:110832000-110854600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr3:110832000-110856600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr3:110832200-110837200	Weak transcription	Fetal Lung	lung
35	chr3:110832200-110837400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:110832200-110840800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr3:110832200-110842400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:110832200-110847200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr3:110832200-110852400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:110832200-110853600	Weak transcription	HSMMtube	muscle
41	chr3:110832200-110881800	Weak transcription	Small Intestine	intestine
42	chr3:110832200-110892400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr3:110832400-110841800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr3:110832400-110911200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr3:110832600-110840800	Weak transcription	Placenta	Placenta
46	chr3:110832800-110852400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr3:110833000-110845000	Weak transcription	Fetal Kidney	kidney
48	chr3:110833200-110837200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr3:110833600-110855400	Weak transcription	Colon Smooth Muscle	Colon
50	chr3:110833800-110837200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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