Variant report

Variant	esv1799950
Chromosome Location	chr2:30632520-30654319
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:30368074..30370588-chr2:30643535..30646269,2	K562	blood:
2	chr2:30628448..30631665-chr2:30638243..30640996,3	K562	blood:
3	chr2:30644068..30646779-chr2:30882858..30884362,2	K562	blood:
4	chr2:30643798..30646343-chr2:30647095..30650083,5	K562	blood:
5	chr2:30643130..30645110-chr2:30649070..30651101,2	MCF-7	breast:
6	chr2:30647371..30649841-chr2:30651246..30653133,2	K562	blood:
7	chr2:30643130..30645110-chr2:30649070..30651101,2	MCF-7	breast:
8	chr2:30453451..30455867-chr2:30649615..30651171,2	K562	blood:
9	chr2:30560615..30562781-chr2:30642971..30644684,2	K562	blood:
10	chr2:30453072..30455875-chr2:30639708..30641710,2	K562	blood:
11	chr2:30627344..30629722-chr2:30630917..30632644,2	K562	blood:
12	chr2:30632868..30636418-chr2:30882716..30885684,3	K562	blood:
13	chr2:30453855..30456299-chr2:30645533..30648817,3	K562	blood:
14	chr2:30622154..30624895-chr2:30633768..30635407,2	K562	blood:
15	chr2:30643798..30646343-chr2:30647095..30650083,5	K562	blood:
16	chr2:30643531..30645684-chr2:30646943..30651051,5	K562	blood:
17	chr2:30453036..30455279-chr2:30649671..30652674,3	K562	blood:
18	chr2:30600425..30602028-chr2:30634955..30636791,2	K562	blood:
19	chr2:30647371..30649841-chr2:30651246..30653133,2	K562	blood:
20	chr2:30643531..30645684-chr2:30646943..30651051,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000213626	chromatin interactions
ENSG00000119801	chromatin interactions

Extended variants
information (count: 965 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:965 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs829608	chr2:30632520-30632521	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181166300	chr2:30632521-30632522	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs545525598	chr2:30632524-30632525	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs186146067	chr2:30632556-30632557	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs191045709	chr2:30632645-30632646	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs182383651	chr2:30632657-30632658	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs375457904	chr2:30632679-30632680	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs9309679	chr2:30632723-30632724	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs372418150	chr2:30632737-30632738	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs829607	chr2:30632740-30632741	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs78407716	chr2:30632860-30632861	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs548616200	chr2:30632863-30632864	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs562135311	chr2:30632898-30632899	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs531168737	chr2:30632901-30632902	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs10643437	chr2:30632943-30632944	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs34739061	chr2:30632944-30632945	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs1252609	chr2:30632955-30632956	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs58678049	chr2:30632978-30632979	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs113643740	chr2:30632979-30632980	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs187460517	chr2:30633007-30633008	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs144656655	chr2:30633027-30633028	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs527512325	chr2:30633050-30633051	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs191869071	chr2:30633059-30633060	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs567494270	chr2:30633084-30633085	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs147891930	chr2:30633101-30633102	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs76331122	chr2:30633136-30633137	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs142910304	chr2:30633169-30633170	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs539006731	chr2:30633186-30633187	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs183133152	chr2:30633211-30633212	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs572485602	chr2:30633248-30633249	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs139428216	chr2:30633345-30633346	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs375911469	chr2:30633348-30633349	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs13423099	chr2:30633355-30633356	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs555142383	chr2:30633368-30633369	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs575071745	chr2:30633375-30633376	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs17009459	chr2:30633429-30633430	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs151094645	chr2:30633483-30633484	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs547848136	chr2:30633493-30633494	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs34318919	chr2:30633534-30633535	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs532741671	chr2:30633535-30633536	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs544573491	chr2:30633536-30633537	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs141063556	chr2:30633646-30633647	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs187457798	chr2:30633698-30633699	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs547315139	chr2:30633699-30633700	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs78428531	chr2:30633730-30633731	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs529801586	chr2:30633777-30633778	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs17009460	chr2:30633796-30633797	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs530439605	chr2:30633801-30633802	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs190394340	chr2:30633829-30633830	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs539068411	chr2:30633832-30633833	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:667 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30619400-30637200	Enhancers	Fetal Stomach	stomach
2	chr2:30624800-30633200	Enhancers	Fetal Heart	heart
3	chr2:30625000-30636200	Enhancers	Rectal Smooth Muscle	rectum
4	chr2:30626000-30633800	Enhancers	Left Ventricle	heart
5	chr2:30626000-30634000	Enhancers	Right Ventricle	heart
6	chr2:30626000-30638000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:30627600-30647200	Weak transcription	Brain Angular Gyrus	brain
8	chr2:30628000-30644400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:30628200-30633400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:30628200-30636000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:30628400-30632800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr2:30628400-30639800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:30628600-30632800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:30628600-30634800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:30629400-30634200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:30629400-30635400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:30629600-30638000	Enhancers	Fetal Lung	lung
18	chr2:30629800-30634000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:30629800-30634200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:30629800-30638800	Enhancers	NHDF-Ad	bronchial
21	chr2:30630200-30633800	Enhancers	Ovary	ovary
22	chr2:30630200-30635200	Enhancers	Fetal Thymus	thymus
23	chr2:30630200-30638000	Enhancers	NHLF	lung
24	chr2:30630400-30632600	Enhancers	Fetal Muscle Leg	muscle
25	chr2:30630400-30632600	Enhancers	Placenta	Placenta
26	chr2:30630400-30632600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr2:30630400-30632600	Enhancers	HSMM	muscle
28	chr2:30630400-30632800	Enhancers	Spleen	Spleen
29	chr2:30630400-30633600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:30630400-30633800	Enhancers	Osteobl	bone
31	chr2:30630400-30634000	Enhancers	NH-A	brain
32	chr2:30630400-30634200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr2:30630400-30634200	Enhancers	Thymus	Thymus
34	chr2:30630400-30634200	Enhancers	HUVEC	blood vessel
35	chr2:30630600-30635000	Enhancers	Primary T cells from cord blood	blood
36	chr2:30630800-30633400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr2:30630800-30634000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr2:30631000-30633600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr2:30631200-30633200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr2:30631200-30634000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr2:30631200-30639800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:30631400-30632600	Weak transcription	Aorta	Aorta
43	chr2:30631400-30635600	Weak transcription	Fetal Intestine Large	intestine
44	chr2:30631600-30633000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:30631600-30633200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr2:30631600-30633200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr2:30631600-30636200	Enhancers	Stomach Smooth Muscle	stomach
48	chr2:30631600-30636400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr2:30631600-30637000	Enhancers	Colon Smooth Muscle	Colon
50	chr2:30631600-30639800	Weak transcription	Small Intestine	intestine

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