Variant report

Variant	esv3405592
Chromosome Location	chr2:148641025-148650069
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:148641518..148643796-chr2:148645034..148647455,3	MCF-7	breast:
2	chr2:148642234..148644594-chr2:148650553..148652632,2	MCF-7	breast:
3	chr2:148631936..148634646-chr2:148640576..148642196,2	K562	blood:
4	chr2:148602161..148604647-chr2:148638788..148641073,2	MCF-7	breast:
5	chr2:148633010..148635372-chr2:148639635..148642238,3	K562	blood:
6	chr2:148641518..148643796-chr2:148645034..148647455,3	MCF-7	breast:
7	chr2:148649732..148651497-chr2:148654166..148656398,2	K562	blood:

Variant related genes	Relation type
ENSG00000121989	chromatin interactions
ENSG00000212389	chromatin interactions

Extended variants
information (count: 292 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148001458	chr2:148641090-148641091	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs563729275	chr2:148641108-148641109	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368084936	chr2:148641134-148641135	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs546993434	chr2:148641187-148641188	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs571581321	chr2:148641197-148641198	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs539108097	chr2:148641206-148641207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs557532529	chr2:148641218-148641219	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569068113	chr2:148641239-148641240	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs371776707	chr2:148641252-148641253	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs536452037	chr2:148641279-148641280	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs552822065	chr2:148641311-148641312	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs536712137	chr2:148641402-148641403	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs554862390	chr2:148641448-148641449	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs548160588	chr2:148641466-148641467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs573107904	chr2:148641521-148641522	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs570098661	chr2:148641555-148641556	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs539815894	chr2:148641563-148641564	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs116661180	chr2:148641567-148641568	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574125106	chr2:148641580-148641581	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375986882	chr2:148641595-148641596	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs191458601	chr2:148641695-148641696	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs562249009	chr2:148641729-148641730	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530970540	chr2:148641744-148641745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs542831533	chr2:148641750-148641751	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs2113792	chr2:148641809-148641810	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs528760874	chr2:148641812-148641813	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs184394396	chr2:148641813-148641814	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs571607584	chr2:148641877-148641878	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs532449283	chr2:148641890-148641891	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs551046147	chr2:148641924-148641925	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs371546417	chr2:148641926-148641927	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs571028166	chr2:148641953-148641954	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs141956789	chr2:148642107-148642108	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs536416664	chr2:148642213-148642214	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs535204557	chr2:148642235-148642236	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs150236272	chr2:148642272-148642273	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs553721531	chr2:148642298-148642299	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs369294751	chr2:148642303-148642304	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs566575700	chr2:148642316-148642317	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs139020920	chr2:148642340-148642341	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs200561793	chr2:148642355-148642356	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs188876512	chr2:148642367-148642368	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs576727823	chr2:148642411-148642412	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs193124639	chr2:148642413-148642414	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs555807716	chr2:148642449-148642450	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs568756335	chr2:148642519-148642520	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs185154900	chr2:148642553-148642554	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs190126987	chr2:148642585-148642586	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs181186465	chr2:148642700-148642701	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs556991331	chr2:148642704-148642705	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	19904302	CNVD
Intellectual disability	19904302	CNVD
Microcephaly	19904302	CNVD
severe speech impairment	19904302	CNVD
Mental retardation	20152051	CNVD
2q23.1 microdeletion syndrome	18812405	CNVD
Mental retardation	19809484	CNVD
Autism	21981781	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148621600-148641600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:148623600-148642600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:148634600-148641200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:148634600-148641800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:148634600-148641800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:148634600-148642400	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:148634600-148642800	Weak transcription	Ovary	ovary
8	chr2:148634600-148668200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:148635200-148641800	Weak transcription	Liver	Liver
10	chr2:148635600-148645800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:148637200-148641800	Weak transcription	HepG2	liver
12	chr2:148637200-148752600	Weak transcription	Small Intestine	intestine
13	chr2:148637400-148654800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:148638800-148641400	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:148638800-148641400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:148638800-148642200	Weak transcription	Psoas Muscle	Psoas
17	chr2:148638800-148645200	Weak transcription	Fetal Intestine Small	intestine
18	chr2:148639000-148641400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:148639000-148641600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:148639000-148654800	Weak transcription	Fetal Intestine Large	intestine
21	chr2:148639200-148641800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:148639600-148641600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:148639800-148641400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:148639800-148641400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:148639800-148641800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr2:148639800-148646000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:148640000-148641800	Enhancers	Adipose Nuclei	Adipose
28	chr2:148640000-148642800	Enhancers	Fetal Lung	lung
29	chr2:148640200-148644400	Weak transcription	Right Atrium	heart
30	chr2:148640200-148644600	Weak transcription	Fetal Heart	heart
31	chr2:148640400-148641800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:148640400-148642000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr2:148640400-148642200	Weak transcription	Brain Germinal Matrix	brain
34	chr2:148640600-148641800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:148640600-148642200	Weak transcription	Stomach Mucosa	stomach
36	chr2:148641000-148642800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr2:148641000-148644400	Weak transcription	Left Ventricle	heart
38	chr2:148641200-148642200	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr2:148641200-148642800	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr2:148641400-148641600	Enhancers	Brain Cingulate Gyrus	brain
41	chr2:148641400-148641800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:148641400-148642400	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr2:148641400-148642800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr2:148641400-148642800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:148641400-148643800	Enhancers	Colon Smooth Muscle	Colon
46	chr2:148641400-148644000	Enhancers	Rectal Smooth Muscle	rectum
47	chr2:148641600-148641800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:148641600-148642600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr2:148641600-148642800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr2:148641600-148643200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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