Variant report

Variant	esv3362446
Chromosome Location	chr2:233760508-233762881
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:4)
LncRNA
region (count:0)
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	GATA2	chr2:233760831-233761213	SH-SY5Y	brain:	n/a	n/a
2	GATA3	chr2:233760913-233761100	SH-SY5Y	brain:	n/a	n/a
3	MAX	chr2:233762167-233762176	NB4	blood:	n/a	n/a
4	MYC	chr2:233762048-233762145	NB4	blood:	n/a	n/a
5	POLR2A	chr2:233762620-233762621	MCF-7	breast:	n/a	n/a
6	POLR2A	chr2:233762624-233762625	MCF-7	breast:	n/a	n/a
7	ZNF263	chr2:233760621-233761094	HEK293-T-REx	kidney:	n/a	chr2:233760699-233760708 chr2:233760734-233760755

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:233762570-233762620	T-47D	breast:	n/a
2	chr2:233762570-233762620	GM12891	blood:	n/a
3	chr2:233762570-233762620	Caco-2	colon:	n/a
4	chr2:233762570-233762620	MCF10A-Er-Src	breast:	n/a
5	chr2:233762570-233762620	LNCaP	prostate:	n/a
6	chr2:233762570-233762620	HAEpiC	amniotic membrane:	n/a
7	chr2:233762570-233762620	HCF	heart:	n/a
8	chr2:233762570-233762620	MCF-7	breast:	n/a
9	chr2:233762570-233762620	K562	blood:	n/a
10	chr2:233762570-233762620	SK-N-MC	brain:	n/a
11	chr2:233762570-233762620	A549	lung:	n/a
12	chr2:233762570-233762620	HCPEpiC	choroid plexus:	n/a
13	chr2:233762570-233762620	HCT-116	colon:	n/a
14	chr2:233762570-233762620	HNPCEpiC	eye:	n/a
15	chr2:233762570-233762620	HMEC	breast:	n/a
16	chr2:233762570-233762620	IMR90	lung:	fetal
17	chr2:233762570-233762620	HL-60	blood:	n/a
18	chr2:233762570-233762620	HRCEpiC	kidney:	n/a
19	chr2:233762570-233762620	AG04450	lung:	fetal
20	chr2:233762570-233762620	AG10803	skin:	n/a
21	chr2:233762570-233762620	SKMC	muscle:	n/a
22	chr2:233762570-233762620	ovcar-3	ovarian:	n/a
23	chr2:233762570-233762620	AoSMC	blood vessel:	n/a
24	chr2:233762570-233762620	BE2_C	brain:	n/a
25	chr2:233762570-233762620	AG09309	skin:	n/a
26	chr2:233762570-233762620	ECC-1	luminal epithelium:	n/a
27	chr2:233762570-233762620	ProgFib	skin:	n/a
28	chr2:233762570-233762620	U87	brain:	n/a
29	chr2:233762570-233762620	HepG2	liver:	n/a
30	chr2:233762570-233762620	SAEC	small airway:	n/a
31	chr2:233762570-233762620	Hela-S3	cervix:	n/a
32	chr2:233762570-233762620	BJ	skin:	n/a
33	chr2:233762570-233762620	NH-A	brain:	n/a
34	chr2:233762570-233762620	AG09319	gingival:	n/a
35	chr2:233762570-233762620	NHBE	bronchial:	n/a
36	chr2:233762570-233762620	PANC-1	pancreas:	n/a
37	chr2:233762570-233762620	HIPEpiC	eye:	n/a
38	chr2:233762570-233762620	SK-N-SH_RA	brain:	n/a
39	chr2:233762570-233762620	HUVEC	blood vessel:	n/a
40	chr2:233762570-233762620	HRPEpiC	eye:	n/a
41	chr2:233762570-233762620	CMK	blood:	n/a
42	chr2:233762570-233762620	GM12878	blood:	n/a
43	chr2:233762570-233762620	HCM	heart:	n/a
44	chr2:233762570-233762620	PFSK-1	brain:	n/a
45	chr2:233762570-233762620	NHDF-neo	bronchial:	n/a
46	chr2:233762570-233762620	SK-N-SH	brain:	n/a
47	chr2:233762570-233762620	PrEC	prostate:	n/a
48	chr2:233762570-233762620	Hepatocyte	liver:	n/a
49	chr2:233762570-233762620	NT2-D1	testis:	n/a
50	chr2:233762570-233762620	Jurkat	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:233754168..233758647-chr2:233758964..233761620,4	MCF-7	breast:
2	chr2:233755071..233758000-chr2:233760102..233763754,5	MCF-7	breast:
3	chr2:233757939..233761647-chr2:233789148..233791862,3	K562	blood:
4	chr2:233755320..233757977-chr2:233759184..233761690,2	K562	blood:

No data

Variant related genes	Relation type
NGEF	TF binding region
NGEF	CpG island
ENSG00000066248	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2592121	chr2:233760519-233760520	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191841210	chr2:233760520-233760521	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555338216	chr2:233760523-233760524	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531766527	chr2:233760539-233760540	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs572076507	chr2:233760552-233760553	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs534694012	chr2:233760607-233760608	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs577872148	chr2:233760609-233760610	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs557855064	chr2:233760669-233760670	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs577937335	chr2:233760717-233760718	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs561338008	chr2:233760726-233760727	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563445837	chr2:233760749-233760750	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs79561374	chr2:233760761-233760762	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs3038710	chr2:233760764-233760765	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs201590729	chr2:233760766-233760767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs573870911	chr2:233760771-233760772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs367807495	chr2:233760783-233760784	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs530351769	chr2:233760796-233760797	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs1562288	chr2:233760866-233760867	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs559682077	chr2:233760939-233760940	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs73995715	chr2:233760995-233760996	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs551481709	chr2:233761056-233761057	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372059247	chr2:233761065-233761066	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs564991200	chr2:233761086-233761087	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs115250742	chr2:233761098-233761099	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs550750904	chr2:233761216-233761217	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs567909439	chr2:233761242-233761243	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs530396403	chr2:233761249-233761250	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs548739014	chr2:233761294-233761295	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs565687233	chr2:233761296-233761297	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs534574893	chr2:233761355-233761356	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs184192664	chr2:233761404-233761405	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs13395246	chr2:233761434-233761435	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs557892029	chr2:233761449-233761450	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs571325298	chr2:233761451-233761452	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs537284532	chr2:233761455-233761456	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs13395339	chr2:233761494-233761495	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs557117189	chr2:233761510-233761511	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs573882512	chr2:233761524-233761525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs542922183	chr2:233761525-233761526	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs13421072	chr2:233761545-233761546	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs13383472	chr2:233761546-233761547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs187369300	chr2:233761554-233761555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs552962446	chr2:233761555-233761556	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs13421081	chr2:233761560-233761561	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs567780551	chr2:233761673-233761674	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs9752833	chr2:233761705-233761706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs544961456	chr2:233761749-233761750	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs565075685	chr2:233761751-233761752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs530907374	chr2:233761764-233761765	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs544504930	chr2:233761767-233761768	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233749400-233766000	Weak transcription	A549	lung
2	chr2:233750800-233761000	Weak transcription	Stomach Mucosa	stomach
3	chr2:233751000-233766000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:233756200-233763600	Weak transcription	NHLF	lung
5	chr2:233756400-233763800	Weak transcription	Right Atrium	heart
6	chr2:233756600-233763400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:233756600-233766400	Weak transcription	Brain Substantia Nigra	brain
8	chr2:233756800-233765400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:233757000-233765400	Weak transcription	Pancreas	Pancrea
10	chr2:233757000-233766200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:233757000-233766200	Weak transcription	Fetal Brain Female	brain
12	chr2:233757000-233766400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:233757200-233763400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:233757400-233776600	Weak transcription	Brain Angular Gyrus	brain
15	chr2:233757600-233763400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:233757800-233763400	Weak transcription	Gastric	stomach
17	chr2:233758200-233768800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:233759000-233763200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:233759200-233784400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:233759400-233763400	Weak transcription	Fetal Intestine Small	intestine
21	chr2:233759400-233765800	Weak transcription	Esophagus	oesophagus
22	chr2:233759600-233762800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:233759800-233760800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:233759800-233763200	Weak transcription	Liver	Liver
25	chr2:233759800-233763400	Weak transcription	Spleen	Spleen
26	chr2:233759800-233766000	Weak transcription	Colonic Mucosa	Colon
27	chr2:233759800-233766400	Weak transcription	HepG2	liver
28	chr2:233760400-233761000	Enhancers	Brain Anterior Caudate	brain
29	chr2:233760600-233762600	Weak transcription	Fetal Brain Male	brain
30	chr2:233760800-233761400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:233761000-233765800	Weak transcription	Brain Anterior Caudate	brain
32	chr2:233761400-233761800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:233761800-233763600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr2:233762800-233764000	Strong transcription	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links