Variant report

Variant	esv1831787
Chromosome Location	chr2:74010258-74036308
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:644)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:644 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr2:74011334-74011570	GM12878	blood:	n/a	n/a
2	BATF	chr2:74016935-74017230	GM12878	blood:	n/a	n/a
3	BATF	chr2:74031630-74031925	GM12878	blood:	n/a	n/a
4	BATF	chr2:74026730-74027025	GM12878	blood:	n/a	n/a
5	BATF	chr2:74030737-74031093	GM12878	blood:	n/a	n/a
6	BATF	chr2:74017217-74017417	GM12878	blood:	n/a	n/a
7	BATF	chr2:74011141-74011519	GM12878	blood:	n/a	n/a
8	BATF	chr2:74022114-74022314	GM12878	blood:	n/a	n/a
9	BATF	chr2:74020939-74021295	GM12878	blood:	n/a	n/a
10	BATF	chr2:74035636-74036014	GM12878	blood:	n/a	n/a
11	BATF	chr2:74031912-74032112	GM12878	blood:	n/a	n/a
12	BATF	chr2:74016042-74016398	GM12878	blood:	n/a	n/a
13	BATF	chr2:74025837-74026193	GM12878	blood:	n/a	n/a
14	BATF	chr2:74012316-74012516	GM12878	blood:	n/a	n/a
15	BATF	chr2:74012103-74012308	GM12878	blood:	n/a	n/a
16	BATF	chr2:74027012-74027212	GM12878	blood:	n/a	n/a
17	BATF	chr2:74021832-74022127	GM12878	blood:	n/a	n/a
18	BCL11A	chr2:74021083-74021430	GM12878	blood:	n/a	n/a
19	BCL11A	chr2:74014937-74015180	GM12878	blood:	n/a	n/a
20	BCL11A	chr2:74035780-74036074	GM12878	blood:	n/a	n/a
21	BCL11A	chr2:74011201-74011579	GM12878	blood:	n/a	n/a
22	BCL11A	chr2:74030798-74030991	GM12878	blood:	n/a	n/a
23	BCL11A	chr2:74012160-74012430	GM12878	blood:	n/a	n/a
24	BCL11A	chr2:74016186-74016533	GM12878	blood:	n/a	n/a
25	BCL11A	chr2:74016103-74016296	GM12878	blood:	n/a	n/a
26	BCL11A	chr2:74025981-74026328	GM12878	blood:	n/a	n/a
27	BCL11A	chr2:74025898-74026091	GM12878	blood:	n/a	n/a
28	BCL11A	chr2:74030881-74031228	GM12878	blood:	n/a	n/a
29	BCL11A	chr2:74021000-74021193	GM12878	blood:	n/a	n/a
30	BCL11A	chr2:74019834-74020077	GM12878	blood:	n/a	n/a
31	BCL11A	chr2:74024732-74024975	GM12878	blood:	n/a	n/a
32	BHLHE40	chr2:74014743-74014965	HepG2	liver:	n/a	n/a
33	BHLHE40	chr2:74029434-74029671	HepG2	liver:	n/a	n/a
34	BHLHE40	chr2:74024538-74024760	HepG2	liver:	n/a	n/a
35	BHLHE40	chr2:74034334-74034571	HepG2	liver:	n/a	n/a
36	BHLHE40	chr2:74019640-74019862	HepG2	liver:	n/a	n/a
37	CTCF	chr2:74036098-74036178	GM10248	blood:	n/a	n/a
38	EBF1	chr2:74011106-74011300	GM12878	blood:	n/a	n/a
39	EBF1	chr2:74016210-74016437	GM12878	blood:	n/a	n/a
40	EBF1	chr2:74011089-74011368	GM12878	blood:	n/a	n/a
41	EBF1	chr2:74016007-74016201	GM12878	blood:	n/a	n/a
42	EBF1	chr2:74025785-74026064	GM12878	blood:	n/a	n/a
43	EBF1	chr2:74035601-74035795	GM12878	blood:	n/a	n/a
44	EBF1	chr2:74026005-74026232	GM12878	blood:	n/a	n/a
45	EBF1	chr2:74021107-74021334	GM12878	blood:	n/a	n/a
46	EBF1	chr2:74011309-74011503	GM12878	blood:	n/a	n/a
47	EBF1	chr2:74030685-74030964	GM12878	blood:	n/a	n/a
48	EBF1	chr2:74030905-74031132	GM12878	blood:	n/a	n/a
49	EBF1	chr2:74030702-74030896	GM12878	blood:	n/a	n/a
50	EBF1	chr2:74020904-74021098	GM12878	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:74010554-74010604	ECC-1	luminal epithelium:	n/a
2	chr2:74010290-74010340	HCM	heart:	n/a
3	chr2:74010621-74010671	SK-N-SH	brain:	n/a
4	chr2:74010290-74010340	HAEpiC	amniotic membrane:	n/a
5	chr2:74010290-74010340	T-47D	breast:	n/a
6	chr2:74010290-74010340	IMR90	lung:	fetal
7	chr2:74010621-74010671	HL-60	blood:	n/a
8	chr2:74010290-74010340	GM19239	blood:	n/a
9	chr2:74010290-74010340	ProgFib	skin:	n/a
10	chr2:74010396-74010446	HepG2	liver:	n/a
11	chr2:74010621-74010671	U87	brain:	n/a
12	chr2:74010290-74010340	AoSMC	blood vessel:	n/a
13	chr2:74010396-74010446	AG10803	skin:	n/a
14	chr2:74010621-74010671	NHDF-neo	bronchial:	n/a
15	chr2:74010396-74010446	PFSK-1	brain:	n/a
16	chr2:74010290-74010340	PANC-1	pancreas:	n/a
17	chr2:74010621-74010671	GM06990	blood:	n/a
18	chr2:74010290-74010340	SAEC	small airway:	n/a
19	chr2:74010290-74010340	HL-60	blood:	n/a
20	chr2:74010554-74010604	HRPEpiC	eye:	n/a
21	chr2:74010554-74010604	NHBE	bronchial:	n/a
22	chr2:74010554-74010604	HCPEpiC	choroid plexus:	n/a
23	chr2:74010290-74010340	MCF10A-Er-Src	breast:	n/a
24	chr2:74010396-74010446	HCF	heart:	n/a
25	chr2:74010396-74010446	AG04449	skin:	fetal
26	chr2:74010290-74010340	HRPEpiC	eye:	n/a
27	chr2:74010621-74010671	SKMC	muscle:	n/a
28	chr2:74010396-74010446	RPTEC	kidney:	n/a
29	chr2:74010290-74010340	GM12891	blood:	n/a
30	chr2:74010290-74010340	GM12878	blood:	n/a
31	chr2:74010621-74010671	AG04449	skin:	fetal
32	chr2:74010554-74010604	HPAEpiC	pulmonary alveolar:	n/a
33	chr2:74010396-74010446	NHDF-neo	bronchial:	n/a
34	chr2:74010396-74010446	ECC-1	luminal epithelium:	n/a
35	chr2:74010554-74010604	K562	blood:	n/a
36	chr2:74010290-74010340	HepG2	liver:	n/a
37	chr2:74010554-74010604	PFSK-1	brain:	n/a
38	chr2:74010290-74010340	MCF-7	breast:	n/a
39	chr2:74010396-74010446	SK-N-MC	brain:	n/a
40	chr2:74010554-74010604	Caco-2	colon:	n/a
41	chr2:74010621-74010671	HEK293	kidney:	embryo
42	chr2:74010554-74010604	BJ	skin:	n/a
43	chr2:74010290-74010340	HRE	kidney:	n/a
44	chr2:74010621-74010671	AG09319	gingival:	n/a
45	chr2:74010396-74010446	PANC-1	pancreas:	n/a
46	chr2:74010554-74010604	GM12891	blood:	n/a
47	chr2:74010290-74010340	BE2_C	brain:	n/a
48	chr2:74010621-74010671	A549	lung:	n/a
49	chr2:74010290-74010340	HEK293	kidney:	embryo
50	chr2:74010554-74010604	NB4	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STAMBP-3	chr2:74028839-74029096	expReg_chr2_5950_+

No data

Variant related genes	Relation type
C2orf78	TF binding region
DUSP11	TF binding region
C2orf78	CpG island
DUSP11	CpG island

Extended variants
information (count: 119 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2685277	chr2:74010265-74010266	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	mRNA abundance
2	rs536540777	chr2:74010290-74010291	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
3	rs185732010	chr2:74010293-74010294	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
4	rs145481924	chr2:74010305-74010306	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
5	rs543174942	chr2:74010306-74010307	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
6	rs556647091	chr2:74010327-74010328	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
7	rs190050800	chr2:74010359-74010360	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs540754309	chr2:74010387-74010388	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs577101243	chr2:74010397-74010398	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
10	rs148898923	chr2:74010405-74010406	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
11	rs529697192	chr2:74010415-74010416	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
12	rs112200759	chr2:74010438-74010439	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
13	rs148024891	chr2:74010443-74010444	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
14	rs531239080	chr2:74010451-74010452	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs142571969	chr2:74010461-74010462	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs182362110	chr2:74010519-74010520	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs185936003	chr2:74010522-74010523	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs546822512	chr2:74010533-74010534	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs568441448	chr2:74010544-74010545	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs535435192	chr2:74010555-74010556	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
21	rs190705912	chr2:74010566-74010567	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
22	rs114036610	chr2:74010577-74010578	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
23	rs536971908	chr2:74010579-74010580	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
24	rs79364027	chr2:74010587-74010588	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
25	rs13006598	chr2:74010592-74010593	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs540715277	chr2:74010593-74010594	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
27	rs12466586	chr2:74010595-74010596	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs559876239	chr2:74010601-74010602	Active TSS Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
29	rs188746972	chr2:74010609-74010610	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs541419538	chr2:74010613-74010614	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs563308654	chr2:74010622-74010623	Active TSS Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
32	rs575989395	chr2:74010628-74010629	Active TSS Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
33	rs558961722	chr2:74010629-74010630	Active TSS Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
34	rs564662875	chr2:74010669-74010670	Active TSS Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
35	rs192140542	chr2:74010675-74010676	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs527488506	chr2:74010676-74010677	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs561999993	chr2:74010682-74010683	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs182726054	chr2:74010700-74010701	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs375452763	chr2:74010710-74010711	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs550673782	chr2:74010715-74010716	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs568937325	chr2:74010726-74010727	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs536930698	chr2:74010730-74010731	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs552093872	chr2:74010735-74010736	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs187093233	chr2:74010760-74010761	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs534461606	chr2:74010765-74010766	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs553139028	chr2:74010774-74010775	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs191542642	chr2:74010779-74010780	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs535557424	chr2:74010783-74010784	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs184686551	chr2:74010795-74010796	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs575353261	chr2:74010821-74010822	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
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
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
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74007400-74010400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:74010000-74010400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:74010000-74010600	Enhancers	NHEK	skin
4	chr2:74010000-74010800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:74010000-74010800	Enhancers	Hela-S3	cervix
6	chr2:74010000-74011000	Enhancers	HMEC	breast
7	chr2:74010200-74010400	Enhancers	A549	lung
8	chr2:74010200-74010400	Flanking Bivalent TSS/Enh	HepG2	liver
9	chr2:74010200-74010600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr2:74010200-74010800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:74010400-74010600	Flanking Active TSS	A549	lung
12	chr2:74010400-74010600	Bivalent/Poised TSS	HepG2	liver
13	chr2:74010400-74010800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:74010600-74011000	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr2:74010600-74011000	Active TSS	A549	lung
16	chr2:74010600-74011000	Active TSS	HepG2	liver
17	chr2:74035000-74035200	Enhancers	GM12878-XiMat	blood

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