Variant report

Variant	esv1841819
Chromosome Location	chr2:96669134-96674509
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:96672680-96672830	HepG2	liver:	n/a	n/a
2	CTCF	chr2:96672420-96672570	SK-N-SH_RA	brain:	n/a	chr2:96672441-96672454 chr2:96672435-96672453 chr2:96672438-96672451
3	FOXA2	chr2:96671438-96671649	HepG2	liver:	n/a	n/a
4	MYC	chr2:96672816-96672917	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr2:96669888-96669943	A549	lung:	n/a	n/a
6	POLR2A	chr2:96670581-96670605	A549	lung:	n/a	n/a
7	POLR2A	chr2:96670432-96670579	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:96673978-96674028	CMK	blood:	n/a
2	chr2:96673978-96674028	HEEpiC	esophagus:	n/a
3	chr2:96673978-96674028	NT2-D1	testis:	n/a
4	chr2:96673978-96674028	HRE	kidney:	n/a
5	chr2:96673978-96674028	HEK293	kidney:	embryo
6	chr2:96673978-96674028	GM12892	blood:	n/a
7	chr2:96673978-96674028	AG09319	gingival:	n/a
8	chr2:96673978-96674028	HL-60	blood:	n/a
9	chr2:96673978-96674028	BJ	skin:	n/a
10	chr2:96673978-96674028	AG04449	skin:	fetal
11	chr2:96673978-96674028	SAEC	small airway:	n/a
12	chr2:96673978-96674028	Hepatocyte	liver:	n/a
13	chr2:96673978-96674028	AG09309	skin:	n/a
14	chr2:96673978-96674028	NHDF-neo	bronchial:	n/a
15	chr2:96673978-96674028	MCF10A-Er-Src	breast:	n/a
16	chr2:96673978-96674028	A549	lung:	n/a
17	chr2:96673978-96674028	NHBE	bronchial:	n/a
18	chr2:96673978-96674028	HRCEpiC	kidney:	n/a
19	chr2:96673978-96674028	SK-N-SH_RA	brain:	n/a
20	chr2:96673978-96674028	GM06990	blood:	n/a
21	chr2:96673978-96674028	BE2_C	brain:	n/a
22	chr2:96673978-96674028	HCPEpiC	choroid plexus:	n/a
23	chr2:96673978-96674028	K562	blood:	n/a
24	chr2:96673978-96674028	PFSK-1	brain:	n/a
25	chr2:96673978-96674028	RPTEC	kidney:	n/a
26	chr2:96673978-96674028	HRPEpiC	eye:	n/a
27	chr2:96673978-96674028	ECC-1	luminal epithelium:	n/a
28	chr2:96673978-96674028	NB4	blood:	n/a
29	chr2:96673978-96674028	LNCaP	prostate:	n/a
30	chr2:96673978-96674028	PANC-1	pancreas:	n/a
31	chr2:96673978-96674028	GM12891	blood:	n/a
32	chr2:96673978-96674028	H1-hESC	embryonic stem cell:	embryo
33	chr2:96673978-96674028	SKMC	muscle:	n/a
34	chr2:96673978-96674028	HCM	heart:	n/a
35	chr2:96673978-96674028	HMEC	breast:	n/a
36	chr2:96673978-96674028	HCF	heart:	n/a
37	chr2:96673978-96674028	GM19239	blood:	n/a
38	chr2:96673978-96674028	PrEC	prostate:	n/a
39	chr2:96673978-96674028	T-47D	breast:	n/a
40	chr2:96673978-96674028	HAEpiC	amniotic membrane:	n/a
41	chr2:96673978-96674028	HIPEpiC	eye:	n/a
42	chr2:96673978-96674028	HCT-116	colon:	n/a
43	chr2:96673978-96674028	Caco-2	colon:	n/a
44	chr2:96673978-96674028	HNPCEpiC	eye:	n/a
45	chr2:96673978-96674028	AoSMC	blood vessel:	n/a
46	chr2:96673978-96674028	GM12878	blood:	n/a
47	chr2:96673978-96674028	IMR90	lung:	fetal
48	chr2:96673978-96674028	MCF-7	breast:	n/a
49	chr2:96673978-96674028	HPAEpiC	pulmonary alveolar:	n/a
50	chr2:96673978-96674028	Hela-S3	cervix:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:96673991..96676008-chr2:96873030..96875575,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD36C-3	chr2:96670313-96670601	NONHSAT072529

No data

Variant related genes	Relation type
RN7SL210P	TF binding region
FAHD2CP	TF binding region
RN7SL210P	CpG island
FAHD2CP	CpG island
ENSG00000084090	chromatin interactions
ENSG00000204685	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535801257	chr2:96670324-96670325	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs552661429	chr2:96670483-96670484	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs183900589	chr2:96670491-96670492	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs190379416	chr2:96670497-96670498	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs533555847	chr2:96670515-96670516	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs564910332	chr2:96670557-96670558	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs545980485	chr2:96671485-96671486	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs536393443	chr2:96671580-96671581	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs562955029	chr2:96671627-96671628	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs567748286	chr2:96671648-96671649	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs561931822	chr2:96672424-96672425	Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs371785599	chr2:96672471-96672472	Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs76001175	chr2:96672526-96672527	Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs531221015	chr2:96672583-96672584	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs547681372	chr2:96672756-96672757	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs570762788	chr2:96672757-96672758	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs532020020	chr2:96672769-96672770	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs565548366	chr2:96672770-96672771	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs577627552	chr2:96672787-96672788	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs186631884	chr2:96672836-96672837	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs562966645	chr2:96672856-96672857	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs568878061	chr2:96672900-96672901	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs548175392	chr2:96673979-96673980	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
24	rs561790917	chr2:96674005-96674006	Enhancers	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs138643748	chr2:96674012-96674013	Enhancers	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs527362949	chr2:96674016-96674017	Enhancers	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs547648119	chr2:96674046-96674047	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs570616370	chr2:96674048-96674049	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs2692947	chr2:96674116-96674117	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs376980774	chr2:96674181-96674182	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs140404790	chr2:96674229-96674230	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs370066787	chr2:96674244-96674245	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs535471843	chr2:96674307-96674308	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs545372046	chr2:96674314-96674315	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs150363943	chr2:96674324-96674325	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs185780698	chr2:96674341-96674342	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs200276702	chr2:96674352-96674353	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs534774911	chr2:96674416-96674417	Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs558107777	chr2:96674448-96674449	Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs578119641	chr2:96674453-96674454	Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
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
Autism	17483303	CNVD
Medulloblastoma	20607354	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	18574593	CNVD
Hepatocellular carcinoma	16750200	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96672400-96672600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
2	chr2:96674000-96674400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:96674400-96674600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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