Variant report

Variant	esv1829180
Chromosome Location	chr2:74008755-74040242
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:666)
CpG islands
(count:244)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:666 , 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	chr2:74036598-74036799	GM12878	blood:	n/a	n/a
3	BATF	chr2:74012316-74012516	GM12878	blood:	n/a	n/a
4	BATF	chr2:74035636-74036014	GM12878	blood:	n/a	n/a
5	BATF	chr2:74031630-74031925	GM12878	blood:	n/a	n/a
6	BATF	chr2:74012103-74012308	GM12878	blood:	n/a	n/a
7	BATF	chr2:74027012-74027212	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	chr2:74030737-74031093	GM12878	blood:	n/a	n/a
11	BATF	chr2:74011141-74011519	GM12878	blood:	n/a	n/a
12	BATF	chr2:74017217-74017417	GM12878	blood:	n/a	n/a
13	BATF	chr2:74011334-74011570	GM12878	blood:	n/a	n/a
14	BATF	chr2:74025837-74026193	GM12878	blood:	n/a	n/a
15	BATF	chr2:74016935-74017230	GM12878	blood:	n/a	n/a
16	BATF	chr2:74020939-74021295	GM12878	blood:	n/a	n/a
17	BATF	chr2:74021832-74022127	GM12878	blood:	n/a	n/a
18	BATF	chr2:74026730-74027025	GM12878	blood:	n/a	n/a
19	BATF	chr2:74016042-74016398	GM12878	blood:	n/a	n/a
20	BCL11A	chr2:74016186-74016533	GM12878	blood:	n/a	n/a
21	BCL11A	chr2:74021083-74021430	GM12878	blood:	n/a	n/a
22	BCL11A	chr2:74011201-74011579	GM12878	blood:	n/a	n/a
23	BCL11A	chr2:74021000-74021193	GM12878	blood:	n/a	n/a
24	BCL11A	chr2:74024732-74024975	GM12878	blood:	n/a	n/a
25	BCL11A	chr2:74012160-74012430	GM12878	blood:	n/a	n/a
26	BCL11A	chr2:74014937-74015180	GM12878	blood:	n/a	n/a
27	BCL11A	chr2:74025898-74026091	GM12878	blood:	n/a	n/a
28	BCL11A	chr2:74025981-74026328	GM12878	blood:	n/a	n/a
29	BCL11A	chr2:74030881-74031228	GM12878	blood:	n/a	n/a
30	BCL11A	chr2:74030798-74030991	GM12878	blood:	n/a	n/a
31	BCL11A	chr2:74035780-74036074	GM12878	blood:	n/a	n/a
32	BCL11A	chr2:74019834-74020077	GM12878	blood:	n/a	n/a
33	BCL11A	chr2:74016103-74016296	GM12878	blood:	n/a	n/a
34	BHLHE40	chr2:74029434-74029671	HepG2	liver:	n/a	n/a
35	BHLHE40	chr2:74024538-74024760	HepG2	liver:	n/a	n/a
36	BHLHE40	chr2:74034334-74034571	HepG2	liver:	n/a	n/a
37	BHLHE40	chr2:74019640-74019862	HepG2	liver:	n/a	n/a
38	BHLHE40	chr2:74014743-74014965	HepG2	liver:	n/a	n/a
39	CTCF	chr2:74036098-74036178	GM10248	blood:	n/a	n/a
40	CTCF	chr2:74008833-74008856	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr2:74037394-74037472	GM13976	blood:	n/a	n/a
42	EBF1	chr2:74011309-74011503	GM12878	blood:	n/a	n/a
43	EBF1	chr2:74035601-74035795	GM12878	blood:	n/a	n/a
44	EBF1	chr2:74011089-74011368	GM12878	blood:	n/a	n/a
45	EBF1	chr2:74025785-74026064	GM12878	blood:	n/a	n/a
46	EBF1	chr2:74016007-74016201	GM12878	blood:	n/a	n/a
47	EBF1	chr2:74016210-74016437	GM12878	blood:	n/a	n/a
48	EBF1	chr2:74030702-74030896	GM12878	blood:	n/a	n/a
49	EBF1	chr2:74025802-74025996	GM12878	blood:	n/a	n/a
50	EBF1	chr2:74020887-74021166	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	ProgFib	skin:	n/a
2	chr2:74010396-74010446	AG10803	skin:	n/a
3	chr2:74010554-74010604	HEK293	kidney:	embryo
4	chr2:74010621-74010671	AG04450	lung:	fetal
5	chr2:74010554-74010604	AG10803	skin:	n/a
6	chr2:74010290-74010340	AG04450	lung:	fetal
7	chr2:74010396-74010446	SK-N-SH	brain:	n/a
8	chr2:74010290-74010340	HAEpiC	amniotic membrane:	n/a
9	chr2:74010621-74010671	PANC-1	pancreas:	n/a
10	chr2:74010290-74010340	GM06990	blood:	n/a
11	chr2:74010290-74010340	HEK293	kidney:	embryo
12	chr2:74010554-74010604	A549	lung:	n/a
13	chr2:74010554-74010604	IMR90	lung:	fetal
14	chr2:74010396-74010446	BJ	skin:	n/a
15	chr2:74010396-74010446	SK-N-SH_RA	brain:	n/a
16	chr2:74010621-74010671	MCF-7	breast:	n/a
17	chr2:74010554-74010604	LNCaP	prostate:	n/a
18	chr2:74010290-74010340	ovcar-3	ovarian:	n/a
19	chr2:74010621-74010671	T-47D	breast:	n/a
20	chr2:74010290-74010340	RPTEC	kidney:	n/a
21	chr2:74010396-74010446	CMK	blood:	n/a
22	chr2:74010290-74010340	NH-A	brain:	n/a
23	chr2:74010554-74010604	HEEpiC	esophagus:	n/a
24	chr2:74010396-74010446	HepG2	liver:	n/a
25	chr2:74010621-74010671	HRCEpiC	kidney:	n/a
26	chr2:74010554-74010604	HepG2	liver:	n/a
27	chr2:74010621-74010671	SAEC	small airway:	n/a
28	chr2:74010396-74010446	GM12892	blood:	n/a
29	chr2:74010290-74010340	HepG2	liver:	n/a
30	chr2:74010290-74010340	AoSMC	blood vessel:	n/a
31	chr2:74010621-74010671	GM12892	blood:	n/a
32	chr2:74010621-74010671	NT2-D1	testis:	n/a
33	chr2:74010290-74010340	GM12891	blood:	n/a
34	chr2:74010554-74010604	SKMC	muscle:	n/a
35	chr2:74010396-74010446	HRE	kidney:	n/a
36	chr2:74010290-74010340	GM12892	blood:	n/a
37	chr2:74010621-74010671	ovcar-3	ovarian:	n/a
38	chr2:74010554-74010604	BJ	skin:	n/a
39	chr2:74010621-74010671	ProgFib	skin:	n/a
40	chr2:74010290-74010340	HIPEpiC	eye:	n/a
41	chr2:74010554-74010604	U87	brain:	n/a
42	chr2:74010396-74010446	Jurkat	blood:	n/a
43	chr2:74010554-74010604	AG09309	skin:	n/a
44	chr2:74010621-74010671	HAEpiC	amniotic membrane:	n/a
45	chr2:74010290-74010340	HNPCEpiC	eye:	n/a
46	chr2:74010621-74010671	SK-N-SH	brain:	n/a
47	chr2:74010621-74010671	GM06990	blood:	n/a
48	chr2:74010290-74010340	SKMC	muscle:	n/a
49	chr2:74010554-74010604	Caco-2	colon:	n/a
50	chr2:74010554-74010604	NHDF-neo	bronchial:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74039040..74040674-chr2:74053917..74056106,2	K562	blood:
2	chr2:73983484..73986212-chr2:74007345..74009528,2	K562	blood:
3	chr2:74038622..74040472-chr2:74041607..74044081,2	K562	blood:
4	chr2:74038622..74040633-chr2:74042512..74044081,2	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: 272 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549094529	chr2:74008760-74008761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567138619	chr2:74008787-74008788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369756547	chr2:74008824-74008825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142018821	chr2:74008834-74008835	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs559939639	chr2:74008853-74008854	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs188783739	chr2:74008884-74008885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571576628	chr2:74008935-74008936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530119795	chr2:74009074-74009075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527551217	chr2:74009075-74009076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538970585	chr2:74009095-74009096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192902008	chr2:74009096-74009097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572341205	chr2:74009103-74009104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552456775	chr2:74009120-74009121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542746902	chr2:74009163-74009164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555092969	chr2:74009174-74009175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570712658	chr2:74009185-74009186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543758222	chr2:74009201-74009202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6742091	chr2:74009207-74009208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs139472284	chr2:74009211-74009212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545349788	chr2:74009212-74009213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61270355	chr2:74009220-74009221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527521990	chr2:74009230-74009231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184138641	chr2:74009239-74009240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568602612	chr2:74009250-74009251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560989886	chr2:74009305-74009306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13022117	chr2:74009314-74009315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188393664	chr2:74009322-74009323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549725900	chr2:74009333-74009334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113947461	chr2:74009356-74009357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538933717	chr2:74009372-74009373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547725945	chr2:74009402-74009403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs58660474	chr2:74009405-74009406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs142474929	chr2:74009442-74009443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554874070	chr2:74009451-74009452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576448098	chr2:74009514-74009515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537170437	chr2:74009526-74009527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558968753	chr2:74009542-74009543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369876874	chr2:74009561-74009562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577342923	chr2:74009567-74009568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545312018	chr2:74009574-74009575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72915471	chr2:74009606-74009607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572250693	chr2:74009625-74009626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370146725	chr2:74009628-74009629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191298183	chr2:74009631-74009632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115672232	chr2:74009634-74009635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183528345	chr2:74009661-74009662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549647241	chr2:74009688-74009689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13426598	chr2:74009694-74009695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190451782	chr2:74009695-74009696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546992769	chr2:74009707-74009708	Weak transcription	n/a	n/a	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:37 , 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	chr2:74007600-74010000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:74007600-74010000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:74007600-74010000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:74007600-74010000	Weak transcription	Hela-S3	cervix
6	chr2:74007600-74010000	Weak transcription	NHEK	skin
7	chr2:74007600-74010200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:74007800-74010000	Weak transcription	HMEC	breast
9	chr2:74007800-74010200	Weak transcription	A549	lung
10	chr2:74008200-74009800	Weak transcription	HepG2	liver
11	chr2:74009800-74010000	Enhancers	HepG2	liver
12	chr2:74010000-74010200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:74010000-74010200	Flanking Active TSS	HepG2	liver
14	chr2:74010000-74010400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:74010000-74010600	Enhancers	NHEK	skin
16	chr2:74010000-74010800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:74010000-74010800	Enhancers	Hela-S3	cervix
18	chr2:74010000-74011000	Enhancers	HMEC	breast
19	chr2:74010200-74010400	Enhancers	A549	lung
20	chr2:74010200-74010400	Flanking Bivalent TSS/Enh	HepG2	liver
21	chr2:74010200-74010600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr2:74010200-74010800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:74010400-74010600	Flanking Active TSS	A549	lung
24	chr2:74010400-74010600	Bivalent/Poised TSS	HepG2	liver
25	chr2:74010400-74010800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:74010600-74011000	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr2:74010600-74011000	Active TSS	A549	lung
28	chr2:74010600-74011000	Active TSS	HepG2	liver
29	chr2:74035000-74035200	Enhancers	GM12878-XiMat	blood
30	chr2:74036800-74037400	Enhancers	GM12878-XiMat	blood
31	chr2:74039600-74040600	Enhancers	Fetal Intestine Small	intestine
32	chr2:74039600-74040600	Enhancers	HepG2	liver
33	chr2:74039600-74040800	Enhancers	Liver	Liver
34	chr2:74039600-74040800	Enhancers	Fetal Intestine Large	intestine
35	chr2:74039600-74041600	Enhancers	K562	blood
36	chr2:74040200-74040400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:74040200-74040600	Enhancers	Skeletal Muscle Female	skeletal muscle

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