Variant report

Variant	esv17034
Chromosome Location	chr2:76337003-76338022
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:76337965-76338015	GM12878	blood:	n/a
2	chr2:76337965-76338015	H1-hESC	embryonic stem cell:	embryo
3	chr2:76337965-76338015	NH-A	brain:	n/a
4	chr2:76337965-76338015	GM06990	blood:	n/a
5	chr2:76337965-76338015	PrEC	prostate:	n/a
6	chr2:76337965-76338015	AG10803	skin:	n/a
7	chr2:76337965-76338015	HUVEC	blood vessel:	n/a
8	chr2:76337965-76338015	HNPCEpiC	eye:	n/a
9	chr2:76337965-76338015	BJ	skin:	n/a
10	chr2:76337965-76338015	RPTEC	kidney:	n/a
11	chr2:76337965-76338015	MCF10A-Er-Src	breast:	n/a
12	chr2:76337965-76338015	AG09309	skin:	n/a
13	chr2:76337965-76338015	SK-N-MC	brain:	n/a
14	chr2:76337965-76338015	PFSK-1	brain:	n/a
15	chr2:76337965-76338015	HCT-116	colon:	n/a
16	chr2:76337965-76338015	NHDF-neo	bronchial:	n/a
17	chr2:76337965-76338015	ECC-1	luminal epithelium:	n/a
18	chr2:76337965-76338015	BE2_C	brain:	n/a
19	chr2:76337965-76338015	ovcar-3	ovarian:	n/a
20	chr2:76337965-76338015	Jurkat	blood:	n/a
21	chr2:76337965-76338015	NB4	blood:	n/a
22	chr2:76337965-76338015	HRPEpiC	eye:	n/a
23	chr2:76337965-76338015	HL-60	blood:	n/a
24	chr2:76337965-76338015	MCF-7	breast:	n/a
25	chr2:76337965-76338015	ProgFib	skin:	n/a
26	chr2:76337965-76338015	Hela-S3	cervix:	n/a
27	chr2:76337965-76338015	GM12892	blood:	n/a
28	chr2:76337965-76338015	HCPEpiC	choroid plexus:	n/a
29	chr2:76337965-76338015	AG09319	gingival:	n/a
30	chr2:76337965-76338015	HEEpiC	esophagus:	n/a
31	chr2:76337965-76338015	A549	lung:	n/a
32	chr2:76337965-76338015	T-47D	breast:	n/a
33	chr2:76337965-76338015	GM19239	blood:	n/a
34	chr2:76337965-76338015	SK-N-SH	brain:	n/a
35	chr2:76337965-76338015	HIPEpiC	eye:	n/a
36	chr2:76337965-76338015	Caco-2	colon:	n/a
37	chr2:76337965-76338015	SK-N-SH_RA	brain:	n/a
38	chr2:76337965-76338015	SAEC	small airway:	n/a
39	chr2:76337965-76338015	AoSMC	blood vessel:	n/a
40	chr2:76337965-76338015	AG04449	skin:	fetal
41	chr2:76337965-76338015	HCF	heart:	n/a
42	chr2:76337965-76338015	HPAEpiC	pulmonary alveolar:	n/a
43	chr2:76337965-76338015	HepG2	liver:	n/a
44	chr2:76337965-76338015	HRCEpiC	kidney:	n/a
45	chr2:76337965-76338015	HAEpiC	amniotic membrane:	n/a
46	chr2:76337965-76338015	Hepatocyte	liver:	n/a
47	chr2:76337965-76338015	GM12891	blood:	n/a
48	chr2:76337965-76338015	AG04450	lung:	fetal
49	chr2:76337965-76338015	CMK	blood:	n/a
50	chr2:76337965-76338015	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:76291024..76293676-chr2:76337937..76340562,2	K562	blood:

No data

Variant related genes	Relation type
SUCLA2P2	CpG island

Extended variants
information (count: 43 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187938854	chr2:76337013-76337014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191607873	chr2:76337044-76337045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564905923	chr2:76337084-76337085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34372923	chr2:76337106-76337107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547810569	chr2:76337130-76337131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74908832	chr2:76337131-76337132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572789855	chr2:76337155-76337156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376491111	chr2:76337157-76337158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540305611	chr2:76337168-76337169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547559364	chr2:76337200-76337201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145854729	chr2:76337247-76337248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529007845	chr2:76337251-76337252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17700553	chr2:76337280-76337281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs563884202	chr2:76337305-76337306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531185187	chr2:76337310-76337311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183336206	chr2:76337337-76337338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553997545	chr2:76337345-76337346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17012180	chr2:76337346-76337347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs528511320	chr2:76337358-76337359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188795357	chr2:76337392-76337393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568426867	chr2:76337395-76337396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535561374	chr2:76337452-76337453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192347889	chr2:76337464-76337465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568755854	chr2:76337536-76337537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539337724	chr2:76337627-76337628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377037037	chr2:76337652-76337653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10195421	chr2:76337715-76337716	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs317290	chr2:76337737-76337738	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs138486018	chr2:76337749-76337750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376079052	chr2:76337770-76337771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184769833	chr2:76337791-76337792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115745358	chr2:76337846-76337847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs317289	chr2:76337861-76337862	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs186459632	chr2:76337872-76337873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141330530	chr2:76337873-76337874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34840105	chr2:76337932-76337933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546505034	chr2:76337940-76337941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6759090	chr2:76337951-76337952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191309930	chr2:76337965-76337966	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs546636715	chr2:76337966-76337967	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs184651191	chr2:76337973-76337974	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs529343303	chr2:76337982-76337983	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs550699054	chr2:76337984-76337985	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76332200-76337400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:76334400-76338600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:76334800-76337600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:76336200-76337600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:76336200-76338600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:76337400-76337800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:76337600-76337800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:76337600-76338000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:76337600-76339200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:76337600-76339200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:76337600-76339200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:76337800-76338200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:76337800-76338600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:76338000-76338400	Weak transcription	H1 Cell Line	embryonic stem cell

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