Variant report

Variant	nsv979290
Chromosome Location	chr2:86015956-86029004
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:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:86021788..86023834-chr2:86023904..86026512,2	MCF-7	breast:
2	chr2:86020913..86022569-chr2:86028373..86031162,2	K562	blood:
3	chr2:86015379..86018037-chr2:86020333..86023146,3	MCF-7	breast:
4	chr2:85980611..85983485-chr2:86014274..86016062,2	MCF-7	breast:
5	chr2:86021788..86023834-chr2:86023904..86026512,2	MCF-7	breast:
6	chr2:86025084..86025806-chr2:86041078..86041588,2	MCF-7	breast:
7	chr2:85977427..85978425-chr2:86024880..86025694,8	MCF-7	breast:
8	chr2:86025368..86028290-chr2:86031457..86033472,3	MCF-7	breast:
9	chr2:85998096..86001212-chr2:86021812..86025448,3	MCF-7	breast:
10	chr2:86001369..86004244-chr2:86027552..86029124,2	MCF-7	breast:
11	chr2:86013683..86016312-chr2:86025949..86028304,2	MCF-7	breast:
12	chr2:86011226..86014071-chr2:86015355..86018702,3	K562	blood:
13	chr2:85997689..85999503-chr2:86015915..86018374,2	MCF-7	breast:
14	chr2:86020913..86022569-chr2:86028373..86031162,2	K562	blood:
15	chr2:85863132..85864782-chr2:86027607..86030371,2	MCF-7	breast:
16	chr2:86013683..86016312-chr2:86025949..86028304,2	MCF-7	breast:
17	chr2:86005993..86008298-chr2:86013315..86016426,3	MCF-7	breast:
18	chr2:86015229..86018634-chr2:86021632..86024903,4	K562	blood:
19	chr2:86015229..86018634-chr2:86021632..86024903,4	K562	blood:
20	chr2:85928909..85931848-chr2:86021884..86024213,2	K562	blood:
21	chr2:85977326..85978260-chr2:86024538..86025326,2	MCF-7	breast:
22	chr2:86015379..86018037-chr2:86020333..86023146,3	MCF-7	breast:
23	chr2:86012601..86015321-chr2:86017209..86019068,2	K562	blood:
24	chr2:86024028..86026534-chr2:86035288..86037420,2	K562	blood:
25	chr2:86020003..86022831-chr2:86024128..86027495,3	K562	blood:
26	chr2:85956013..85956682-chr2:86024671..86025569,3	MCF-7	breast:
27	chr2:86007953..86010891-chr2:86015873..86017457,2	MCF-7	breast:
28	chr2:85986182..85989122-chr2:86027454..86030247,2	MCF-7	breast:
29	chr2:86013750..86016057-chr2:86037086..86038756,2	K562	blood:
30	chr2:86020003..86022831-chr2:86024128..86027495,3	K562	blood:
31	chr2:86019488..86022075-chr2:86030495..86033177,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000168874	chromatin interactions
ENSG00000168883	chromatin interactions

Extended variants
information (count: 557 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:557 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559474868	chr2:86015960-86015961	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs533376353	chr2:86015970-86015971	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs113344181	chr2:86015974-86015975	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182928576	chr2:86015979-86015980	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs112407507	chr2:86016059-86016060	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs114460810	chr2:86016116-86016117	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs115110758	chr2:86016138-86016139	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531191847	chr2:86016236-86016237	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs549254925	chr2:86016264-86016265	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs114336106	chr2:86016273-86016274	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs748064	chr2:86016322-86016323	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs553088354	chr2:86016324-86016325	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571683292	chr2:86016457-86016458	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs55882144	chr2:86016463-86016464	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs557890611	chr2:86016468-86016469	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576268911	chr2:86016515-86016516	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs147660401	chr2:86016542-86016543	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs13035450	chr2:86016656-86016657	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186142856	chr2:86016658-86016659	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs190805057	chr2:86016679-86016680	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs559205949	chr2:86016726-86016727	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs577619237	chr2:86016738-86016739	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs545278570	chr2:86016786-86016787	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs183399184	chr2:86016793-86016794	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs1370543	chr2:86016802-86016803	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs140717338	chr2:86016826-86016827	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs115909159	chr2:86016872-86016873	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs144473836	chr2:86016923-86016924	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs368802126	chr2:86016924-86016925	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs372769313	chr2:86016950-86016951	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs528484306	chr2:86016953-86016954	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs546564179	chr2:86016957-86016958	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs145670322	chr2:86016964-86016965	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs1370544	chr2:86016973-86016974	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs187857738	chr2:86017033-86017034	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs1914821	chr2:86017065-86017066	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs537221953	chr2:86017073-86017074	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs555714023	chr2:86017074-86017075	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs66550107	chr2:86017093-86017094	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs35120971	chr2:86017094-86017095	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs192338919	chr2:86017112-86017113	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs148876535	chr2:86017223-86017224	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs538489261	chr2:86017230-86017231	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs552891913	chr2:86017260-86017261	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs78724028	chr2:86017338-86017339	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs536461436	chr2:86017361-86017362	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs369329691	chr2:86017376-86017377	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs10190632	chr2:86017386-86017387	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs199697158	chr2:86017445-86017446	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs146569473	chr2:86017446-86017447	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16272173	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:492 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86001400-86023000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:86001600-86020000	Weak transcription	Fetal Brain Female	brain
3	chr2:86001600-86023000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:86004800-86017200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:86005400-86019200	Weak transcription	HUVEC	blood vessel
6	chr2:86006600-86019000	Weak transcription	Esophagus	oesophagus
7	chr2:86006800-86020000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:86007000-86019200	Weak transcription	Hela-S3	cervix
9	chr2:86008200-86016000	Weak transcription	Pancreas	Pancrea
10	chr2:86012000-86016400	Enhancers	Right Atrium	heart
11	chr2:86012000-86019000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:86012400-86016400	Genic enhancers	Right Ventricle	heart
13	chr2:86013200-86016000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:86013200-86017200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:86013200-86017400	Weak transcription	Brain Germinal Matrix	brain
16	chr2:86013200-86023000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:86013400-86017400	Weak transcription	NH-A	brain
18	chr2:86013400-86019000	Weak transcription	Psoas Muscle	Psoas
19	chr2:86013600-86017400	Strong transcription	Adipose Nuclei	Adipose
20	chr2:86013600-86017800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:86013600-86019000	Weak transcription	NHDF-Ad	bronchial
22	chr2:86013600-86023200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:86013800-86016800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:86013800-86019200	Weak transcription	HSMMtube	muscle
25	chr2:86014000-86016000	Strong transcription	Brain Anterior Caudate	brain
26	chr2:86014000-86016000	Strong transcription	Fetal Muscle Leg	muscle
27	chr2:86014000-86016000	Strong transcription	Gastric	stomach
28	chr2:86014000-86016200	Strong transcription	Fetal Intestine Small	intestine
29	chr2:86014000-86017000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:86014000-86017800	Strong transcription	Fetal Lung	lung
31	chr2:86014000-86019000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:86014000-86019600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:86014200-86017400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:86014200-86023200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:86014400-86016000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:86014400-86016600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr2:86014400-86018200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:86014800-86016800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:86015000-86016400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:86015000-86016400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr2:86015000-86019600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:86015200-86017200	Strong transcription	Lung	lung
43	chr2:86015200-86020000	Weak transcription	Liver	Liver
44	chr2:86015200-86020000	Weak transcription	Colonic Mucosa	Colon
45	chr2:86015400-86016000	Strong transcription	Spleen	Spleen
46	chr2:86015400-86016600	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr2:86015400-86016800	Weak transcription	Fetal Brain Male	brain
48	chr2:86015400-86017400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:86015400-86018800	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:86015400-86024800	Enhancers	Brain Angular Gyrus	brain

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