Variant report

Variant	esv12664
Chromosome Location	chr2:74009707-74039385
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:658)
CpG islands
(count:244)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:658 , 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	BATF	chr2:74020939-74021295	GM12878	blood:	n/a	n/a
2	BATF	chr2:74030737-74031093	GM12878	blood:	n/a	n/a
3	BATF	chr2:74016935-74017230	GM12878	blood:	n/a	n/a
4	BATF	chr2:74012103-74012308	GM12878	blood:	n/a	n/a
5	BATF	chr2:74012316-74012516	GM12878	blood:	n/a	n/a
6	BATF	chr2:74011141-74011519	GM12878	blood:	n/a	n/a
7	BATF	chr2:74021832-74022127	GM12878	blood:	n/a	n/a
8	BATF	chr2:74017217-74017417	GM12878	blood:	n/a	n/a
9	BATF	chr2:74031630-74031925	GM12878	blood:	n/a	n/a
10	BATF	chr2:74011334-74011570	GM12878	blood:	n/a	n/a
11	BATF	chr2:74025837-74026193	GM12878	blood:	n/a	n/a
12	BATF	chr2:74036598-74036799	GM12878	blood:	n/a	n/a
13	BATF	chr2:74035636-74036014	GM12878	blood:	n/a	n/a
14	BATF	chr2:74027012-74027212	GM12878	blood:	n/a	n/a
15	BATF	chr2:74026730-74027025	GM12878	blood:	n/a	n/a
16	BATF	chr2:74031912-74032112	GM12878	blood:	n/a	n/a
17	BATF	chr2:74016042-74016398	GM12878	blood:	n/a	n/a
18	BATF	chr2:74022114-74022314	GM12878	blood:	n/a	n/a
19	BCL11A	chr2:74012160-74012430	GM12878	blood:	n/a	n/a
20	BCL11A	chr2:74025898-74026091	GM12878	blood:	n/a	n/a
21	BCL11A	chr2:74021083-74021430	GM12878	blood:	n/a	n/a
22	BCL11A	chr2:74030798-74030991	GM12878	blood:	n/a	n/a
23	BCL11A	chr2:74030881-74031228	GM12878	blood:	n/a	n/a
24	BCL11A	chr2:74025981-74026328	GM12878	blood:	n/a	n/a
25	BCL11A	chr2:74035780-74036074	GM12878	blood:	n/a	n/a
26	BCL11A	chr2:74014937-74015180	GM12878	blood:	n/a	n/a
27	BCL11A	chr2:74011201-74011579	GM12878	blood:	n/a	n/a
28	BCL11A	chr2:74019834-74020077	GM12878	blood:	n/a	n/a
29	BCL11A	chr2:74016103-74016296	GM12878	blood:	n/a	n/a
30	BCL11A	chr2:74021000-74021193	GM12878	blood:	n/a	n/a
31	BCL11A	chr2:74024732-74024975	GM12878	blood:	n/a	n/a
32	BCL11A	chr2:74016186-74016533	GM12878	blood:	n/a	n/a
33	BHLHE40	chr2:74029434-74029671	HepG2	liver:	n/a	n/a
34	BHLHE40	chr2:74034334-74034571	HepG2	liver:	n/a	n/a
35	BHLHE40	chr2:74024538-74024760	HepG2	liver:	n/a	n/a
36	BHLHE40	chr2:74019640-74019862	HepG2	liver:	n/a	n/a
37	BHLHE40	chr2:74014743-74014965	HepG2	liver:	n/a	n/a
38	CTCF	chr2:74037394-74037472	GM13976	blood:	n/a	n/a
39	CTCF	chr2:74036098-74036178	GM10248	blood:	n/a	n/a
40	EBF1	chr2:74030702-74030896	GM12878	blood:	n/a	n/a
41	EBF1	chr2:74020887-74021166	GM12878	blood:	n/a	n/a
42	EBF1	chr2:74020904-74021098	GM12878	blood:	n/a	n/a
43	EBF1	chr2:74025785-74026064	GM12878	blood:	n/a	n/a
44	EBF1	chr2:74016007-74016201	GM12878	blood:	n/a	n/a
45	EBF1	chr2:74016210-74016437	GM12878	blood:	n/a	n/a
46	EBF1	chr2:74011089-74011368	GM12878	blood:	n/a	n/a
47	EBF1	chr2:74021107-74021334	GM12878	blood:	n/a	n/a
48	EBF1	chr2:74011106-74011300	GM12878	blood:	n/a	n/a
49	EBF1	chr2:74030905-74031132	GM12878	blood:	n/a	n/a
50	EBF1	chr2:74025802-74025996	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	HNPCEpiC	eye:	n/a
2	chr2:74010290-74010340	HRCEpiC	kidney:	n/a
3	chr2:74010290-74010340	AG04449	skin:	fetal
4	chr2:74010554-74010604	PFSK-1	brain:	n/a
5	chr2:74010290-74010340	SK-N-SH	brain:	n/a
6	chr2:74010290-74010340	NT2-D1	testis:	n/a
7	chr2:74010554-74010604	BE2_C	brain:	n/a
8	chr2:74010290-74010340	H1-hESC	embryonic stem cell:	embryo
9	chr2:74010621-74010671	HUVEC	blood vessel:	n/a
10	chr2:74010621-74010671	HRPEpiC	eye:	n/a
11	chr2:74010396-74010446	HEK293	kidney:	embryo
12	chr2:74010290-74010340	MCF-7	breast:	n/a
13	chr2:74010290-74010340	T-47D	breast:	n/a
14	chr2:74010396-74010446	BJ	skin:	n/a
15	chr2:74010621-74010671	ovcar-3	ovarian:	n/a
16	chr2:74010396-74010446	AoSMC	blood vessel:	n/a
17	chr2:74010290-74010340	PrEC	prostate:	n/a
18	chr2:74010554-74010604	HUVEC	blood vessel:	n/a
19	chr2:74010290-74010340	U87	brain:	n/a
20	chr2:74010621-74010671	HCM	heart:	n/a
21	chr2:74010554-74010604	PANC-1	pancreas:	n/a
22	chr2:74010290-74010340	SK-N-MC	brain:	n/a
23	chr2:74010554-74010604	AG09319	gingival:	n/a
24	chr2:74010621-74010671	MCF-7	breast:	n/a
25	chr2:74010396-74010446	SK-N-MC	brain:	n/a
26	chr2:74010621-74010671	GM12891	blood:	n/a
27	chr2:74010554-74010604	HEEpiC	esophagus:	n/a
28	chr2:74010290-74010340	BE2_C	brain:	n/a
29	chr2:74010290-74010340	Hepatocyte	liver:	n/a
30	chr2:74010621-74010671	HEK293	kidney:	embryo
31	chr2:74010554-74010604	ProgFib	skin:	n/a
32	chr2:74010396-74010446	ProgFib	skin:	n/a
33	chr2:74010621-74010671	SAEC	small airway:	n/a
34	chr2:74010554-74010604	SK-N-SH	brain:	n/a
35	chr2:74010554-74010604	BJ	skin:	n/a
36	chr2:74010290-74010340	CMK	blood:	n/a
37	chr2:74010554-74010604	GM12892	blood:	n/a
38	chr2:74010290-74010340	HNPCEpiC	eye:	n/a
39	chr2:74010621-74010671	A549	lung:	n/a
40	chr2:74010621-74010671	HL-60	blood:	n/a
41	chr2:74010621-74010671	AG04450	lung:	fetal
42	chr2:74010554-74010604	Hela-S3	cervix:	n/a
43	chr2:74010290-74010340	NHBE	bronchial:	n/a
44	chr2:74010554-74010604	HepG2	liver:	n/a
45	chr2:74010290-74010340	HAEpiC	amniotic membrane:	n/a
46	chr2:74010290-74010340	HepG2	liver:	n/a
47	chr2:74010396-74010446	AG10803	skin:	n/a
48	chr2:74010621-74010671	HRCEpiC	kidney:	n/a
49	chr2:74010396-74010446	NHBE	bronchial:	n/a
50	chr2:74010396-74010446	LNCaP	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:74038622..74040633-chr2:74042512..74044081,2	K562	blood:
2	chr2:74038622..74040472-chr2:74041607..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
DUSP11	TF binding region
C2orf78	TF binding region
DUSP11	CpG island
C2orf78	CpG island
ENSG00000124356	chromatin interactions

Extended variants
information (count: 191 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:191 , 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	rs546992769	chr2:74009707-74009708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116160950	chr2:74009712-74009713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536559945	chr2:74009758-74009759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73948197	chr2:74009760-74009761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548735635	chr2:74009770-74009771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536037202	chr2:74009802-74009803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114391430	chr2:74009812-74009813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs72915474	chr2:74009817-74009818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559132531	chr2:74009821-74009822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374472740	chr2:74009827-74009828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182529123	chr2:74009864-74009865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377565210	chr2:74009870-74009871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534966855	chr2:74009876-74009877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143707486	chr2:74009905-74009906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139368859	chr2:74009914-74009915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373817348	chr2:74009931-74009932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554379008	chr2:74009968-74009969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572693929	chr2:74009971-74009972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145098867	chr2:74009974-74009975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576719478	chr2:74009977-74009978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539702863	chr2:74010014-74010015	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs147591913	chr2:74010016-74010017	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs577297446	chr2:74010019-74010020	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs114853152	chr2:74010022-74010023	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs141916109	chr2:74010026-74010027	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs201572527	chr2:74010048-74010049	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs558429916	chr2:74010051-74010052	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs116641217	chr2:74010056-74010057	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs540591271	chr2:74010065-74010066	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs559106239	chr2:74010066-74010067	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs530396499	chr2:74010125-74010126	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs187107100	chr2:74010138-74010139	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs539264115	chr2:74010141-74010142	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs576757137	chr2:74010154-74010155	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs548635162	chr2:74010155-74010156	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs190420297	chr2:74010165-74010166	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs531055385	chr2:74010193-74010194	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs552805490	chr2:74010207-74010208	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs570916143	chr2:74010220-74010221	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs181559778	chr2:74010227-74010228	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs553383297	chr2:74010243-74010244	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs2685277	chr2:74010265-74010266	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	mRNA abundance
43	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
44	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
45	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
46	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
47	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
48	rs190050800	chr2:74010359-74010360	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs540754309	chr2:74010387-74010388	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	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

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:30 , 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

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