Variant report

Variant	esv1804150
Chromosome Location	chr2:58418501-58431168
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	chr14:66359504..66360065-chr2:58426278..58426972,2	MCF-7	breast:
2	chr2:58418370..58420145-chr2:58421628..58423129,2	K562	blood:
3	chr2:58418370..58420145-chr2:58421628..58423129,2	K562	blood:
4	chr2:58417379..58419777-chr2:58466970..58469419,2	K562	blood:
5	chr2:58421065..58422732-chr2:58460055..58462156,2	K562	blood:
6	chr2:58427142..58430868-chr2:58432407..58434605,4	K562	blood:
7	chr2:58428111..58430458-chr2:58435742..58437845,2	K562	blood:
8	chr2:58420883..58422711-chr2:60798849..60801703,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115392	chromatin interactions
ENSG00000273063	chromatin interactions

Extended variants
information (count: 522 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:522 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17049396	chr2:58418501-58418502	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566364331	chr2:58418503-58418504	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552754124	chr2:58418519-58418520	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs561860658	chr2:58418558-58418559	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs548109262	chr2:58418579-58418580	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs370066647	chr2:58418616-58418617	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs566258722	chr2:58418638-58418639	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs188248196	chr2:58418647-58418648	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs555983371	chr2:58418671-58418672	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs6741122	chr2:58418693-58418694	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541750857	chr2:58418712-58418713	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs181383566	chr2:58418731-58418732	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs185612924	chr2:58418732-58418733	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs374985852	chr2:58418747-58418748	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs546130688	chr2:58418754-58418755	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs564318944	chr2:58418767-58418768	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs373105042	chr2:58418819-58418820	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs148734531	chr2:58418822-58418823	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs543915969	chr2:58418845-58418846	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs562294011	chr2:58418855-58418856	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs529480548	chr2:58418859-58418860	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs547788941	chr2:58418869-58418870	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs550597735	chr2:58418899-58418900	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs76190239	chr2:58418900-58418901	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs569845607	chr2:58418902-58418903	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs138758285	chr2:58418916-58418917	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs114954821	chr2:58418948-58418949	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs142326597	chr2:58418975-58418976	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs570347268	chr2:58419004-58419005	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs559004460	chr2:58419054-58419055	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs376831871	chr2:58419057-58419058	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs537584283	chr2:58419083-58419084	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs151281379	chr2:58419121-58419122	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs555297857	chr2:58419175-58419176	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs565827393	chr2:58419196-58419197	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs567937474	chr2:58419226-58419227	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs534829701	chr2:58419233-58419234	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs376396127	chr2:58419243-58419244	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs553783651	chr2:58419260-58419261	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs566221051	chr2:58419272-58419273	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs572351598	chr2:58419279-58419280	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs370695836	chr2:58419325-58419326	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs140999751	chr2:58419331-58419332	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs114975892	chr2:58419337-58419338	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs576480131	chr2:58419354-58419355	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs529736821	chr2:58419391-58419392	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs62140039	chr2:58419415-58419416	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs557045697	chr2:58419424-58419425	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs529518507	chr2:58419428-58419429	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs374366064	chr2:58419434-58419435	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58349000-58421200	Weak transcription	Brain Substantia Nigra	brain
2	chr2:58359000-58454000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:58365600-58438000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:58385000-58421200	Weak transcription	Left Ventricle	heart
5	chr2:58385200-58424600	Weak transcription	Ovary	ovary
6	chr2:58388800-58437400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:58389000-58423200	Weak transcription	NHLF	lung
8	chr2:58389600-58431000	Weak transcription	HUVEC	blood vessel
9	chr2:58389800-58421000	Weak transcription	K562	blood
10	chr2:58390200-58421200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:58391000-58467000	Weak transcription	HMEC	breast
12	chr2:58396400-58438000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:58396400-58438000	Weak transcription	Pancreas	Pancrea
14	chr2:58397800-58442600	Weak transcription	Brain Anterior Caudate	brain
15	chr2:58398000-58437800	Weak transcription	Primary B cells from cord blood	blood
16	chr2:58399400-58437400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:58399800-58421800	Weak transcription	Fetal Stomach	stomach
18	chr2:58399800-58426000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:58400400-58437800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:58403000-58439400	Weak transcription	HSMM	muscle
21	chr2:58403600-58434000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:58403600-58437200	Weak transcription	Fetal Brain Female	brain
23	chr2:58407400-58424000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:58407600-58425000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:58410400-58425200	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:58411600-58437400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:58412000-58420800	Weak transcription	GM12878-XiMat	blood
28	chr2:58413400-58420000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:58413800-58425000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:58413800-58438000	Weak transcription	Thymus	Thymus
31	chr2:58414000-58437600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:58414000-58461400	Weak transcription	NHEK	skin
33	chr2:58414200-58429800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:58414200-58435800	Weak transcription	Fetal Intestine Small	intestine
35	chr2:58414400-58438000	Weak transcription	Esophagus	oesophagus
36	chr2:58414600-58425000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:58414600-58437400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:58414600-58437400	Weak transcription	Brain Germinal Matrix	brain
39	chr2:58414800-58419000	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:58415000-58430400	Weak transcription	NHDF-Ad	bronchial
41	chr2:58415000-58437600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:58415200-58422400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:58415400-58421000	Weak transcription	Hela-S3	cervix
44	chr2:58415400-58434000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr2:58415800-58437400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:58416000-58437400	Weak transcription	Fetal Kidney	kidney
47	chr2:58416200-58420800	Weak transcription	A549	lung
48	chr2:58416200-58421000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:58416200-58437400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:58416200-58454200	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links