Variant report

Variant	esv1825297
Chromosome Location	chr2:74010541-74040242
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:664)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:664 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:74040158-74040429	K562	blood:	n/a	n/a
2	BATF	chr2:74011334-74011570	GM12878	blood:	n/a	n/a
3	BATF	chr2:74031630-74031925	GM12878	blood:	n/a	n/a
4	BATF	chr2:74016042-74016398	GM12878	blood:	n/a	n/a
5	BATF	chr2:74025837-74026193	GM12878	blood:	n/a	n/a
6	BATF	chr2:74012316-74012516	GM12878	blood:	n/a	n/a
7	BATF	chr2:74035636-74036014	GM12878	blood:	n/a	n/a
8	BATF	chr2:74022114-74022314	GM12878	blood:	n/a	n/a
9	BATF	chr2:74031912-74032112	GM12878	blood:	n/a	n/a
10	BATF	chr2:74021832-74022127	GM12878	blood:	n/a	n/a
11	BATF	chr2:74016935-74017230	GM12878	blood:	n/a	n/a
12	BATF	chr2:74030737-74031093	GM12878	blood:	n/a	n/a
13	BATF	chr2:74017217-74017417	GM12878	blood:	n/a	n/a
14	BATF	chr2:74036598-74036799	GM12878	blood:	n/a	n/a
15	BATF	chr2:74026730-74027025	GM12878	blood:	n/a	n/a
16	BATF	chr2:74011141-74011519	GM12878	blood:	n/a	n/a
17	BATF	chr2:74027012-74027212	GM12878	blood:	n/a	n/a
18	BATF	chr2:74012103-74012308	GM12878	blood:	n/a	n/a
19	BATF	chr2:74020939-74021295	GM12878	blood:	n/a	n/a
20	BCL11A	chr2:74014937-74015180	GM12878	blood:	n/a	n/a
21	BCL11A	chr2:74030881-74031228	GM12878	blood:	n/a	n/a
22	BCL11A	chr2:74021000-74021193	GM12878	blood:	n/a	n/a
23	BCL11A	chr2:74016103-74016296	GM12878	blood:	n/a	n/a
24	BCL11A	chr2:74012160-74012430	GM12878	blood:	n/a	n/a
25	BCL11A	chr2:74030798-74030991	GM12878	blood:	n/a	n/a
26	BCL11A	chr2:74024732-74024975	GM12878	blood:	n/a	n/a
27	BCL11A	chr2:74016186-74016533	GM12878	blood:	n/a	n/a
28	BCL11A	chr2:74035780-74036074	GM12878	blood:	n/a	n/a
29	BCL11A	chr2:74025981-74026328	GM12878	blood:	n/a	n/a
30	BCL11A	chr2:74025898-74026091	GM12878	blood:	n/a	n/a
31	BCL11A	chr2:74011201-74011579	GM12878	blood:	n/a	n/a
32	BCL11A	chr2:74021083-74021430	GM12878	blood:	n/a	n/a
33	BCL11A	chr2:74019834-74020077	GM12878	blood:	n/a	n/a
34	BHLHE40	chr2:74034334-74034571	HepG2	liver:	n/a	n/a
35	BHLHE40	chr2:74014743-74014965	HepG2	liver:	n/a	n/a
36	BHLHE40	chr2:74029434-74029671	HepG2	liver:	n/a	n/a
37	BHLHE40	chr2:74024538-74024760	HepG2	liver:	n/a	n/a
38	BHLHE40	chr2:74019640-74019862	HepG2	liver:	n/a	n/a
39	CTCF	chr2:74037394-74037472	GM13976	blood:	n/a	n/a
40	CTCF	chr2:74036098-74036178	GM10248	blood:	n/a	n/a
41	EBF1	chr2:74020887-74021166	GM12878	blood:	n/a	n/a
42	EBF1	chr2:74016007-74016201	GM12878	blood:	n/a	n/a
43	EBF1	chr2:74030905-74031132	GM12878	blood:	n/a	n/a
44	EBF1	chr2:74030702-74030896	GM12878	blood:	n/a	n/a
45	EBF1	chr2:74025802-74025996	GM12878	blood:	n/a	n/a
46	EBF1	chr2:74026005-74026232	GM12878	blood:	n/a	n/a
47	EBF1	chr2:74011089-74011368	GM12878	blood:	n/a	n/a
48	EBF1	chr2:74035584-74035849	GM12878	blood:	n/a	n/a
49	EBF1	chr2:74011309-74011503	GM12878	blood:	n/a	n/a
50	EBF1	chr2:74030685-74030964	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:74010621-74010671	AG04449	skin:	fetal
2	chr2:74010621-74010671	NT2-D1	testis:	n/a
3	chr2:74010621-74010671	SKMC	muscle:	n/a
4	chr2:74010554-74010604	CMK	blood:	n/a
5	chr2:74010621-74010671	GM19239	blood:	n/a
6	chr2:74010621-74010671	ProgFib	skin:	n/a
7	chr2:74010554-74010604	HRPEpiC	eye:	n/a
8	chr2:74010621-74010671	AG04450	lung:	fetal
9	chr2:74010621-74010671	BJ	skin:	n/a
10	chr2:74010554-74010604	SKMC	muscle:	n/a
11	chr2:74010554-74010604	MCF-7	breast:	n/a
12	chr2:74010554-74010604	HUVEC	blood vessel:	n/a
13	chr2:74010554-74010604	HCF	heart:	n/a
14	chr2:74010554-74010604	HL-60	blood:	n/a
15	chr2:74010554-74010604	HNPCEpiC	eye:	n/a
16	chr2:74010621-74010671	HNPCEpiC	eye:	n/a
17	chr2:74010621-74010671	U87	brain:	n/a
18	chr2:74010621-74010671	NB4	blood:	n/a
19	chr2:74010621-74010671	GM12892	blood:	n/a
20	chr2:74010621-74010671	HRPEpiC	eye:	n/a
21	chr2:74010554-74010604	NB4	blood:	n/a
22	chr2:74010554-74010604	PrEC	prostate:	n/a
23	chr2:74010621-74010671	RPTEC	kidney:	n/a
24	chr2:74010554-74010604	T-47D	breast:	n/a
25	chr2:74010554-74010604	ECC-1	luminal epithelium:	n/a
26	chr2:74010554-74010604	HCPEpiC	choroid plexus:	n/a
27	chr2:74010554-74010604	A549	lung:	n/a
28	chr2:74010554-74010604	HEEpiC	esophagus:	n/a
29	chr2:74010621-74010671	Jurkat	blood:	n/a
30	chr2:74010621-74010671	BE2_C	brain:	n/a
31	chr2:74010621-74010671	HepG2	liver:	n/a
32	chr2:74010621-74010671	HPAEpiC	pulmonary alveolar:	n/a
33	chr2:74010554-74010604	HRCEpiC	kidney:	n/a
34	chr2:74010554-74010604	AG04450	lung:	fetal
35	chr2:74010621-74010671	MCF10A-Er-Src	breast:	n/a
36	chr2:74010554-74010604	AG09319	gingival:	n/a
37	chr2:74010554-74010604	GM12878	blood:	n/a
38	chr2:74010554-74010604	BE2_C	brain:	n/a
39	chr2:74010621-74010671	AG10803	skin:	n/a
40	chr2:74010621-74010671	PFSK-1	brain:	n/a
41	chr2:74010621-74010671	LNCaP	prostate:	n/a
42	chr2:74010554-74010604	GM06990	blood:	n/a
43	chr2:74010621-74010671	H1-hESC	embryonic stem cell:	embryo
44	chr2:74010554-74010604	LNCaP	prostate:	n/a
45	chr2:74010554-74010604	AG10803	skin:	n/a
46	chr2:74010621-74010671	AG09319	gingival:	n/a
47	chr2:74010554-74010604	ProgFib	skin:	n/a
48	chr2:74010621-74010671	PrEC	prostate:	n/a
49	chr2:74010554-74010604	IMR90	lung:	fetal
50	chr2:74010621-74010671	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:74038622..74040472-chr2:74041607..74044081,2	K562	blood:
2	chr2:74038622..74040633-chr2:74042512..74044081,2	K562	blood:
3	chr2:74039040..74040674-chr2:74053917..74056106,2	K562	blood:

(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
ENSG00000124356	chromatin interactions

Extended variants
information (count: 164 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568441448	chr2:74010544-74010545	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs535435192	chr2:74010555-74010556	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
3	rs190705912	chr2:74010566-74010567	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
4	rs114036610	chr2:74010577-74010578	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
5	rs536971908	chr2:74010579-74010580	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
6	rs79364027	chr2:74010587-74010588	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
7	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
8	rs540715277	chr2:74010593-74010594	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
9	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
10	rs559876239	chr2:74010601-74010602	Active TSS Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
11	rs188746972	chr2:74010609-74010610	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs541419538	chr2:74010613-74010614	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs563308654	chr2:74010622-74010623	Active TSS Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
14	rs575989395	chr2:74010628-74010629	Active TSS Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
15	rs558961722	chr2:74010629-74010630	Active TSS Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
16	rs564662875	chr2:74010669-74010670	Active TSS Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
17	rs192140542	chr2:74010675-74010676	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs527488506	chr2:74010676-74010677	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs561999993	chr2:74010682-74010683	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs182726054	chr2:74010700-74010701	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs375452763	chr2:74010710-74010711	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs550673782	chr2:74010715-74010716	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs568937325	chr2:74010726-74010727	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs536930698	chr2:74010730-74010731	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs552093872	chr2:74010735-74010736	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs187093233	chr2:74010760-74010761	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs534461606	chr2:74010765-74010766	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs553139028	chr2:74010774-74010775	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs191542642	chr2:74010779-74010780	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs535557424	chr2:74010783-74010784	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs184686551	chr2:74010795-74010796	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs575353261	chr2:74010821-74010822	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs545777879	chr2:74010824-74010825	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs189568729	chr2:74010826-74010827	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs573588498	chr2:74010828-74010829	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs113695557	chr2:74010831-74010832	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs113794361	chr2:74010834-74010835	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs368331523	chr2:74010838-74010839	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs562330070	chr2:74010839-74010840	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs529348803	chr2:74010859-74010860	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs192300980	chr2:74010860-74010861	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs562531883	chr2:74010861-74010862	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs533201235	chr2:74010865-74010866	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs185844696	chr2:74010878-74010879	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs531591906	chr2:74010941-74010942	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs570371291	chr2:74010963-74010964	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs534930522	chr2:74010971-74010972	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs546448310	chr2:74010973-74010974	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs568282880	chr2:74010979-74010980	Active TSS Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs535192295	chr2:74010981-74010982	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74010000-74010600	Enhancers	NHEK	skin
2	chr2:74010000-74010800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:74010000-74010800	Enhancers	Hela-S3	cervix
4	chr2:74010000-74011000	Enhancers	HMEC	breast
5	chr2:74010200-74010600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:74010200-74010800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:74010400-74010600	Flanking Active TSS	A549	lung
8	chr2:74010400-74010600	Bivalent/Poised TSS	HepG2	liver
9	chr2:74010400-74010800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:74010600-74011000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr2:74010600-74011000	Active TSS	A549	lung
12	chr2:74010600-74011000	Active TSS	HepG2	liver
13	chr2:74035000-74035200	Enhancers	GM12878-XiMat	blood
14	chr2:74036800-74037400	Enhancers	GM12878-XiMat	blood
15	chr2:74039600-74040600	Enhancers	Fetal Intestine Small	intestine
16	chr2:74039600-74040600	Enhancers	HepG2	liver
17	chr2:74039600-74040800	Enhancers	Liver	Liver
18	chr2:74039600-74040800	Enhancers	Fetal Intestine Large	intestine
19	chr2:74039600-74041600	Enhancers	K562	blood
20	chr2:74040200-74040400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr2:74040200-74040600	Enhancers	Skeletal Muscle Female	skeletal muscle

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