Variant report

Variant	esv2756950
Chromosome Location	chr2:151502539-151749973
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:66)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:66 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:151342790..151344508-chr2:151701178..151703599,2	MCF-7	breast:
2	chr2:151541056..151543593-chr2:151547271..151548987,2	K562	blood:
3	chr2:151518612..151521370-chr2:151528175..151529931,2	MCF-7	breast:
4	chr2:151563813..151565858-chr2:151568466..151570901,2	MCF-7	breast:
5	chr2:151531823..151533562-chr2:151538525..151541034,2	K562	blood:
6	chr2:151634541..151636776-chr2:151640394..151644038,3	K562	blood:
7	chr2:151586036..151588410-chr2:151590838..151593388,2	MCF-7	breast:
8	chr2:151718532..151720265-chr2:151722000..151724171,2	K562	blood:
9	chr2:151664077..151666029-chr2:151667999..151669580,2	K562	blood:
10	chr2:151343448..151345424-chr2:151666040..151668021,2	MCF-7	breast:
11	chr2:151726245..151728996-chr2:151735766..151738645,2	K562	blood:
12	chr2:151580206..151582720-chr2:151585105..151587713,2	K562	blood:
13	chr2:151531823..151533562-chr2:151538525..151541034,2	K562	blood:
14	chr2:151543063..151545209-chr2:151589638..151591531,2	MCF-7	breast:
15	chr2:151660723..151663706-chr2:151665493..151667253,2	K562	blood:
16	chr2:151602745..151605688-chr2:151608426..151610874,3	MCF-7	breast:
17	chr2:151729118..151732985-chr2:151733017..151737026,4	K562	blood:
18	chr2:151533248..151535265-chr2:151536631..151538715,2	MCF-7	breast:
19	chr2:151512811..151515542-chr2:151522739..151525496,2	K562	blood:
20	chr2:151713893..151716276-chr2:151721161..151722735,2	K562	blood:
21	chr2:151527893..151530038-chr2:151538042..151540023,2	K562	blood:
22	chr2:151512811..151515542-chr2:151521344..151525496,3	K562	blood:
23	chr2:151607201..151610194-chr2:151614017..151616219,2	K562	blood:
24	chr2:151550317..151552227-chr2:151553148..151555899,3	MCF-7	breast:
25	chr2:151680782..151682381-chr2:151683775..151685819,2	K562	blood:
26	chr2:151634541..151636776-chr2:151640394..151644038,3	K562	blood:
27	chr2:151661353..151663578-chr2:151667658..151669550,3	K562	blood:
28	chr2:151718532..151720265-chr2:151722000..151724171,2	K562	blood:
29	chr2:151669959..151672613-chr2:151673437..151676374,2	K562	blood:
30	chr2:151617268..151619341-chr2:151619965..151622687,3	MCF-7	breast:
31	chr18:11001924..11002437-chr2:151673182..151673730,2	MCF-7	breast:
32	chr2:151563813..151565858-chr2:151568466..151570901,2	MCF-7	breast:
33	chr2:151669959..151672613-chr2:151673437..151676374,2	K562	blood:
34	chr2:151342056..151344024-chr2:151662535..151664864,2	MCF-7	breast:
35	chr2:151512811..151515542-chr2:151521344..151525496,3	K562	blood:
36	chr2:151713893..151716276-chr2:151721161..151722735,2	K562	blood:
37	chr2:151554399..151557033-chr2:151557508..151559022,2	MCF-7	breast:
38	chr2:151726245..151728996-chr2:151735766..151738645,2	K562	blood:
39	chr2:151569398..151571442-chr2:151579997..151582186,2	MCF-7	breast:
40	chr2:151536028..151537983-chr2:151543267..151545566,2	MCF-7	breast:
41	chr2:151617268..151619341-chr2:151619965..151622687,3	MCF-7	breast:
42	chr2:151661353..151663578-chr2:151667658..151669550,3	K562	blood:
43	chr2:151616816..151619630-chr2:151619910..151622607,3	MCF-7	breast:
44	chr2:151543063..151545209-chr2:151589638..151591531,2	MCF-7	breast:
45	chr2:151602745..151605688-chr2:151608426..151610874,3	MCF-7	breast:
46	chr2:151569398..151571442-chr2:151579997..151582186,2	MCF-7	breast:
47	chr2:151680782..151682381-chr2:151683775..151685819,2	K562	blood:
48	chr2:151527893..151530038-chr2:151538042..151540023,2	K562	blood:
49	chr10:5933821..5935712-chr2:151735859..151737363,2	K562	blood:
50	chr2:151616816..151619630-chr2:151619910..151622607,3	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RND3-6	chr2:151567380-151567579	NONHSAT074945
2	lnc-RND3-6	chr2:151564830-151565082	NONHSAT074945
3	lnc-RND3-6	chr2:151565085-151565086	FPKM1_group_17405_transcript_1
4	lnc-RND3-6	chr2:151564830-151565082	FPKM1_group_17405_transcript_1

No data

Variant related genes	Relation type
ENSG00000115963	chromatin interactions

Extended variants
information (count: 8058 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:8058 , 50 per page) page: 1 2 3 4 5 6 7 ... 162

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10497068	chr2:151502539-151502540	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141696562	chr2:151502548-151502549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540349645	chr2:151502584-151502585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562706863	chr2:151502589-151502590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13019271	chr2:151502666-151502667	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181013149	chr2:151502752-151502753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185343752	chr2:151502753-151502754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546465338	chr2:151502798-151502799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35283111	chr2:151502811-151502812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145346028	chr2:151502828-151502829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531908254	chr2:151502859-151502860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2341089	chr2:151502890-151502891	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs80142141	chr2:151502903-151502904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147677001	chr2:151502960-151502961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546723767	chr2:151502962-151502963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566436544	chr2:151502965-151502966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548734929	chr2:151503013-151503014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141419665	chr2:151503067-151503068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150382147	chr2:151503070-151503071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78327585	chr2:151503106-151503107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538029870	chr2:151503111-151503112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554314670	chr2:151503134-151503135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567915806	chr2:151503146-151503147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2341090	chr2:151503163-151503164	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553886365	chr2:151503211-151503212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576820909	chr2:151503257-151503258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571440064	chr2:151503262-151503263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545904702	chr2:151503272-151503273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556799225	chr2:151503284-151503285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76194803	chr2:151503298-151503299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10432416	chr2:151503343-151503344	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs534393758	chr2:151503344-151503345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117666771	chr2:151503367-151503368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527900184	chr2:151503401-151503402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2341091	chr2:151503453-151503454	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs560337266	chr2:151503463-151503464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73970503	chr2:151503487-151503488	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs551921771	chr2:151503521-151503522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188089146	chr2:151503543-151503544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531458258	chr2:151503566-151503567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548089164	chr2:151503589-151503590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567904788	chr2:151503600-151503601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550024293	chr2:151503601-151503602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77207215	chr2:151503608-151503609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570888777	chr2:151503614-151503615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34747981	chr2:151503645-151503646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539935761	chr2:151503676-151503677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2879932	chr2:151503700-151503701	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs370574698	chr2:151503723-151503724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138016558	chr2:151503774-151503775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1025 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151494600-151504600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:151499000-151503600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:151499800-151502800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:151500400-151502600	Enhancers	Osteobl	bone
5	chr2:151500800-151502600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:151501000-151503800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:151501600-151503600	Weak transcription	A549	lung
8	chr2:151501600-151519400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:151501800-151503400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:151502200-151503400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:151502200-151503400	Weak transcription	NHLF	lung
12	chr2:151502200-151504400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:151502200-151505200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:151502400-151502800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:151502400-151502800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:151502400-151503400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:151502400-151503400	Weak transcription	NHDF-Ad	bronchial
18	chr2:151502600-151503000	Weak transcription	Osteobl	bone
19	chr2:151502600-151503800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:151502800-151503600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:151502800-151503600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:151503000-151504000	Enhancers	Osteobl	bone
23	chr2:151503400-151503600	Enhancers	NHDF-Ad	bronchial
24	chr2:151503400-151504000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:151503400-151504000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:151503400-151504000	Enhancers	NHLF	lung
27	chr2:151503400-151505400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:151503600-151503800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:151503600-151504000	Enhancers	A549	lung
30	chr2:151503600-151504400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr2:151503600-151505000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:151503600-151505600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:151503800-151504000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:151503800-151504000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:151503800-151504400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:151503800-151504600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:151503800-151504800	Enhancers	H9 Cell Line	embryonic stem cell
38	chr2:151503800-151504800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:151503800-151504800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr2:151504000-151504400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr2:151504000-151504600	Enhancers	HepG2	liver
42	chr2:151504000-151504800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr2:151504000-151504800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr2:151504000-151504800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr2:151504000-151505800	Weak transcription	NHLF	lung
46	chr2:151504200-151504600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr2:151504200-151504600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:151504400-151504600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr2:151504400-151504600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:151504400-151504800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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