Variant report

Variant	esv2600931
Chromosome Location	chr2:233667566-233669152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr2:233667907-233668081	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
GIGYF2	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141873387	chr2:233667607-233667608	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35474409	chr2:233667608-233667609	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs59470353	chr2:233667609-233667610	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201818939	chr2:233667619-233667620	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs397688501	chr2:233667626-233667627	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199960718	chr2:233667627-233667628	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533214571	chr2:233667639-233667640	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183020107	chr2:233667648-233667649	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112445805	chr2:233667664-233667665	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570000116	chr2:233667673-233667674	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572217379	chr2:233667685-233667686	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535599884	chr2:233667692-233667693	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150642923	chr2:233667719-233667720	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568544939	chr2:233667734-233667735	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs283466	chr2:233667744-233667745	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs554479249	chr2:233667754-233667755	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373182868	chr2:233667770-233667771	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557927782	chr2:233667797-233667798	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs59535630	chr2:233667809-233667810	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs543670600	chr2:233667820-233667821	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs376164205	chr2:233667896-233667897	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs577316291	chr2:233667902-233667903	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs576014909	chr2:233667905-233667906	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs541442514	chr2:233667929-233667930	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs561861678	chr2:233667930-233667931	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs188560527	chr2:233667934-233667935	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs373465081	chr2:233668019-233668020	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs541231043	chr2:233668030-233668031	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs192940059	chr2:233668097-233668098	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs74974053	chr2:233668111-233668112	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs550021464	chr2:233668132-233668133	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs549141385	chr2:233668135-233668136	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs569829956	chr2:233668142-233668143	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs368784457	chr2:233668143-233668144	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs546180368	chr2:233668199-233668200	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs115248278	chr2:233668205-233668206	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs185426435	chr2:233668207-233668208	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs13396129	chr2:233668223-233668224	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs565884755	chr2:233668261-233668262	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs556591646	chr2:233668271-233668272	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs534751267	chr2:233668313-233668314	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs576530027	chr2:233668324-233668325	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs188691352	chr2:233668329-233668330	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs571477670	chr2:233668352-233668353	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs12990291	chr2:233668387-233668388	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs79385759	chr2:233668388-233668389	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs375616479	chr2:233668393-233668394	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs200170338	chr2:233668397-233668398	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs13396169	chr2:233668445-233668446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13396304	chr2:233668546-233668547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Pancreatic cancer	17952125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233648800-233668000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:233649000-233680600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:233649400-233667600	Strong transcription	Fetal Thymus	thymus
4	chr2:233651200-233668000	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:233651400-233668000	Strong transcription	Liver	Liver
6	chr2:233651800-233668000	Strong transcription	Dnd41	blood
7	chr2:233655600-233689200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:233656600-233671200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:233656800-233674000	Weak transcription	Fetal Heart	heart
10	chr2:233658000-233671200	Weak transcription	NHLF	lung
11	chr2:233658400-233671200	Weak transcription	Gastric	stomach
12	chr2:233658800-233671200	Weak transcription	Small Intestine	intestine
13	chr2:233659000-233671200	Weak transcription	Fetal Brain Male	brain
14	chr2:233659600-233671200	Weak transcription	Pancreas	Pancrea
15	chr2:233659600-233671600	Weak transcription	Spleen	Spleen
16	chr2:233659800-233671200	Weak transcription	Brain Substantia Nigra	brain
17	chr2:233659800-233672400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr2:233660800-233688600	Weak transcription	Psoas Muscle	Psoas
19	chr2:233661000-233670200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:233661200-233671000	Weak transcription	NHDF-Ad	bronchial
21	chr2:233661200-233671200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:233661400-233671200	Weak transcription	Right Ventricle	heart
23	chr2:233661800-233670800	Weak transcription	Colonic Mucosa	Colon
24	chr2:233661800-233671000	Weak transcription	NHEK	skin
25	chr2:233661800-233671200	Weak transcription	Aorta	Aorta
26	chr2:233661800-233671200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:233662200-233670800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:233662200-233671200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:233662200-233671200	Weak transcription	HSMMtube	muscle
30	chr2:233662200-233671200	Weak transcription	NH-A	brain
31	chr2:233662200-233671400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:233662200-233671400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:233662400-233670200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:233662400-233671200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:233662400-233671200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr2:233662400-233671200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:233662400-233671200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr2:233662400-233672400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:233662400-233672600	Weak transcription	K562	blood
40	chr2:233662600-233671200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:233662600-233679800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:233662800-233670800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:233663000-233671000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:233663200-233671200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:233663400-233669600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:233663400-233670200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr2:233663400-233670800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:233663400-233671200	Weak transcription	Brain Hippocampus Middle	brain
49	chr2:233663400-233671200	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:233664400-233668000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links