Variant report

Variant	esv20608
Chromosome Location	chr2:234543356-234544945
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234544462-234544512	U87	brain:	n/a
2	chr2:234544271-234544321	H1-hESC	embryonic stem cell:	embryo
3	chr2:234544462-234544512	HRE	kidney:	n/a
4	chr2:234544462-234544512	SAEC	small airway:	n/a
5	chr2:234544462-234544512	HL-60	blood:	n/a
6	chr2:234544271-234544321	HCT-116	colon:	n/a
7	chr2:234544462-234544512	HIPEpiC	eye:	n/a
8	chr2:234544271-234544321	MCF-7	breast:	n/a
9	chr2:234544462-234544512	AG04450	lung:	fetal
10	chr2:234544271-234544321	SK-N-SH_RA	brain:	n/a
11	chr2:234544271-234544321	PFSK-1	brain:	n/a
12	chr2:234544271-234544321	HL-60	blood:	n/a
13	chr2:234544462-234544512	PrEC	prostate:	n/a
14	chr2:234544462-234544512	NH-A	brain:	n/a
15	chr2:234544462-234544512	GM12878	blood:	n/a
16	chr2:234544462-234544512	A549	lung:	n/a
17	chr2:234544271-234544321	HepG2	liver:	n/a
18	chr2:234544462-234544512	H1-hESC	embryonic stem cell:	embryo
19	chr2:234544271-234544321	LNCaP	prostate:	n/a
20	chr2:234544271-234544321	HAEpiC	amniotic membrane:	n/a
21	chr2:234544462-234544512	Hela-S3	cervix:	n/a
22	chr2:234544462-234544512	SK-N-SH	brain:	n/a
23	chr2:234544271-234544321	AG09319	gingival:	n/a
24	chr2:234544462-234544512	HRPEpiC	eye:	n/a
25	chr2:234544462-234544512	T-47D	breast:	n/a
26	chr2:234544271-234544321	K562	blood:	n/a
27	chr2:234544271-234544321	GM19239	blood:	n/a
28	chr2:234544271-234544321	ProgFib	skin:	n/a
29	chr2:234544271-234544321	ECC-1	luminal epithelium:	n/a
30	chr2:234544271-234544321	HEEpiC	esophagus:	n/a
31	chr2:234544271-234544321	HRCEpiC	kidney:	n/a
32	chr2:234544271-234544321	RPTEC	kidney:	n/a
33	chr2:234544271-234544321	NH-A	brain:	n/a
34	chr2:234544462-234544512	ovcar-3	ovarian:	n/a
35	chr2:234544462-234544512	HRCEpiC	kidney:	n/a
36	chr2:234544462-234544512	CMK	blood:	n/a
37	chr2:234544462-234544512	GM12892	blood:	n/a
38	chr2:234544462-234544512	HAEpiC	amniotic membrane:	n/a
39	chr2:234544462-234544512	MCF10A-Er-Src	breast:	n/a
40	chr2:234544271-234544321	AG09309	skin:	n/a
41	chr2:234544271-234544321	HPAEpiC	pulmonary alveolar:	n/a
42	chr2:234544462-234544512	K562	blood:	n/a
43	chr2:234544271-234544321	GM12892	blood:	n/a
44	chr2:234544271-234544321	ovcar-3	ovarian:	n/a
45	chr2:234544462-234544512	AG09309	skin:	n/a
46	chr2:234544462-234544512	GM12891	blood:	n/a
47	chr2:234544462-234544512	NT2-D1	testis:	n/a
48	chr2:234544271-234544321	PrEC	prostate:	n/a
49	chr2:234544462-234544512	AoSMC	blood vessel:	n/a
50	chr2:234544462-234544512	SK-N-SH_RA	brain:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	2:234543708-234558325..2:234649753-234657866	Hela-S3	cervix:
2	2:234492023-234494396..2:234543708-234558325	GM12878	blood:
3	2:234543708-234558325..2:234772667-234780240	Hela-S3	cervix:

No data

Variant related genes	Relation type
UGT1A10	CpG island
ENSG00000228949	chromatin interactions
ENSG00000228445	chromatin interactions
ENSG00000227802	chromatin interactions
ENSG00000224287	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78988334	chr2:234543362-234543363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541695478	chr2:234543406-234543407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75921503	chr2:234543415-234543416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560977950	chr2:234543416-234543417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574346786	chr2:234543425-234543426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540548975	chr2:234543467-234543468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561363833	chr2:234543545-234543546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560169392	chr2:234543555-234543556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532411705	chr2:234543567-234543568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141950305	chr2:234543586-234543587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562624277	chr2:234543628-234543629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201283363	chr2:234543629-234543630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34516042	chr2:234543757-234543758	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs531883885	chr2:234543842-234543843	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs548390541	chr2:234543843-234543844	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs568470173	chr2:234543885-234543886	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs2741032	chr2:234543899-234543900	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs547738684	chr2:234543910-234543911	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs570834051	chr2:234543947-234543948	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs539699748	chr2:234544055-234544056	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs556350478	chr2:234544097-234544098	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs28969976	chr2:234544109-234544110	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs537989173	chr2:234544117-234544118	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs554343189	chr2:234544161-234544162	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs113908691	chr2:234544165-234544166	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs74647673	chr2:234544166-234544167	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs539863241	chr2:234544187-234544188	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs183044833	chr2:234544254-234544255	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs570772348	chr2:234544283-234544284	Weak transcription	CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs577211755	chr2:234544329-234544330	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs188481063	chr2:234544345-234544346	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs546111444	chr2:234544348-234544349	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs562720355	chr2:234544380-234544381	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs531513033	chr2:234544385-234544386	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs149873740	chr2:234544388-234544389	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs562060125	chr2:234544400-234544401	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs527761051	chr2:234544402-234544403	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs28969678	chr2:234544406-234544407	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs570474196	chr2:234544410-234544411	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs145951009	chr2:234544441-234544442	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs532635000	chr2:234544454-234544455	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs550055899	chr2:234544457-234544458	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs192998241	chr2:234544462-234544463	Weak transcription Enhancers	CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs45557331	chr2:234544466-234544467	Weak transcription Enhancers	CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs555894785	chr2:234544528-234544529	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs45464594	chr2:234544568-234544569	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs35794478	chr2:234544573-234544574	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs17864678	chr2:234544610-234544611	Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs553811392	chr2:234544642-234544643	Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs576905738	chr2:234544670-234544671	Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Chronic myeloid leukemia	21384125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234538000-234544600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:234544400-234545200	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr2:234544600-234544800	Enhancers	Duodenum Mucosa	Duodenum
4	chr2:234544600-234544800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
5	chr2:234544600-234545000	Enhancers	Colonic Mucosa	Colon
6	chr2:234544800-234547600	Active TSS	Duodenum Mucosa	Duodenum
7	chr2:234544800-234548400	Active TSS	Rectal Mucosa Donor 29	rectum

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