Variant report

Variant	nsv877567
Chromosome Location	chr3:143438124-143478454
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:126080284..126082597-chr3:143456468..143459368,2	MCF-7	breast:
2	chr3:143475833..143478348-chr3:143479892..143482754,2	K562	blood:
3	chr3:143450919..143453424-chr3:143456058..143458069,2	K562	blood:
4	chr3:143473522..143476360-chr3:143484411..143487363,2	K562	blood:
5	chr3:143461586..143463512-chr3:143463686..143466474,2	MCF-7	breast:
6	chr3:143450919..143453424-chr3:143456058..143458069,2	K562	blood:
7	chr3:143434288..143436243-chr3:143436984..143439628,2	K562	blood:
8	chr3:143461586..143463512-chr3:143463686..143466474,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000165526	chromatin interactions
ENSG00000197798	chromatin interactions

Extended variants
information (count: 1608 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1608 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13058809	chr3:143438124-143438125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534007762	chr3:143438176-143438177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540987530	chr3:143438265-143438266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572263992	chr3:143438310-143438311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142292378	chr3:143438312-143438313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190963460	chr3:143438313-143438314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577345304	chr3:143438319-143438320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544451068	chr3:143438424-143438425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562833251	chr3:143438436-143438437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183166705	chr3:143438443-143438444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542122945	chr3:143438445-143438446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559868702	chr3:143438452-143438453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138560089	chr3:143438475-143438476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551968852	chr3:143438552-143438553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7649414	chr3:143438609-143438610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs551879602	chr3:143438693-143438694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570133629	chr3:143438701-143438702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141329788	chr3:143438717-143438718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550038660	chr3:143438718-143438719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147020591	chr3:143438723-143438724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535699888	chr3:143438735-143438736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547690417	chr3:143438764-143438765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566718161	chr3:143438778-143438779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116136181	chr3:143438812-143438813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187138737	chr3:143438852-143438853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570653412	chr3:143438928-143438929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537959208	chr3:143438969-143438970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138191042	chr3:143439012-143439013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143862112	chr3:143439022-143439023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11710406	chr3:143439027-143439028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs144123817	chr3:143439028-143439029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144217187	chr3:143439073-143439074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11710435	chr3:143439089-143439090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148692088	chr3:143439091-143439092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558001186	chr3:143439093-143439094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200032267	chr3:143439094-143439095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564013687	chr3:143439095-143439096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77702766	chr3:143439101-143439102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72993520	chr3:143439104-143439105	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs576304619	chr3:143439332-143439333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535343090	chr3:143439343-143439344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76817677	chr3:143439376-143439377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561835505	chr3:143439387-143439388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114271370	chr3:143439388-143439389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187401820	chr3:143439413-143439414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566013089	chr3:143439466-143439467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547380773	chr3:143439578-143439579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527677303	chr3:143439600-143439601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565699773	chr3:143439603-143439604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116535124	chr3:143439611-143439612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
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
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Adrenocortical carcinoma	18281524	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Autism	22495309	CNVD

Chromatin state (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143394200-143470200	Weak transcription	Primary B cells from cord blood	blood
2	chr3:143427400-143444600	Weak transcription	Esophagus	oesophagus
3	chr3:143435200-143441000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:143436000-143445400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:143436200-143442800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr3:143437600-143446800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:143438400-143469800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr3:143438600-143454200	Weak transcription	Primary T cells from cord blood	blood
9	chr3:143438800-143450400	Weak transcription	Brain Substantia Nigra	brain
10	chr3:143439200-143439400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:143442200-143470200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr3:143443000-143443800	Enhancers	HUVEC	blood vessel
13	chr3:143445000-143445200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:143445000-143447400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:143445000-143447600	Enhancers	HSMM	muscle
16	chr3:143445200-143445400	Enhancers	NHLF	lung
17	chr3:143445200-143446000	Enhancers	HMEC	breast
18	chr3:143445200-143446400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:143445200-143446800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:143445200-143447000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:143445200-143447000	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr3:143445200-143447400	Enhancers	NHDF-Ad	bronchial
23	chr3:143445400-143445600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:143445400-143446800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:143445600-143446600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:143445600-143446600	Weak transcription	NHLF	lung
27	chr3:143445800-143446600	Enhancers	HSMMtube	muscle
28	chr3:143445800-143446800	Enhancers	NHEK	skin
29	chr3:143445800-143447200	Enhancers	Colon Smooth Muscle	Colon
30	chr3:143446200-143446400	Enhancers	Rectal Smooth Muscle	rectum
31	chr3:143446200-143446800	Enhancers	Fetal Brain Male	brain
32	chr3:143446200-143447000	Enhancers	Osteobl	bone
33	chr3:143446200-143447400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:143446400-143447600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:143446600-143446800	Enhancers	Brain Cingulate Gyrus	brain
36	chr3:143446600-143447200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:143446600-143447400	Enhancers	NHLF	lung
38	chr3:143446800-143447000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr3:143446800-143451000	Weak transcription	Fetal Brain Male	brain
40	chr3:143446800-143454600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:143446800-143460400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr3:143447000-143447400	Enhancers	Primary T cells fromperipheralblood	blood
43	chr3:143447000-143447400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr3:143447000-143447600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr3:143447000-143448600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr3:143447200-143448800	Weak transcription	Colon Smooth Muscle	Colon
47	chr3:143447400-143450200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr3:143447400-143450600	Weak transcription	NHLF	lung
49	chr3:143447400-143469800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr3:143447600-143450200	Weak transcription	HSMM	muscle

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