Variant report

Variant	esv3431491
Chromosome Location	chr2:148713982-148715880
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	GATA3	chr2:148714077-148714236	SH-SY5Y	brain:	n/a	n/a
2	MXI1	chr2:148714986-148715032	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ORC4	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530834432	chr2:148714017-148714018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549425517	chr2:148714041-148714042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567662465	chr2:148714053-148714054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534766240	chr2:148714065-148714066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532873522	chr2:148714112-148714113	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs546433284	chr2:148714137-148714138	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs571196260	chr2:148714149-148714150	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs538581148	chr2:148714151-148714152	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs556517577	chr2:148714179-148714180	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs191195903	chr2:148714181-148714182	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs535883692	chr2:148714213-148714214	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs551014927	chr2:148714248-148714249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554603598	chr2:148714255-148714256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572900747	chr2:148714262-148714263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541634475	chr2:148714280-148714281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560024117	chr2:148714317-148714318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146460361	chr2:148714334-148714335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545691359	chr2:148714346-148714347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563844553	chr2:148714373-148714374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182618909	chr2:148714379-148714380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549110179	chr2:148714394-148714395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76655828	chr2:148714402-148714403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528615721	chr2:148714409-148714410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566571907	chr2:148714561-148714562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546371804	chr2:148714676-148714677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192029215	chr2:148714725-148714726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376555845	chr2:148714726-148714727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200556922	chr2:148714752-148714753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538467869	chr2:148714783-148714784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558360987	chr2:148714786-148714787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550425554	chr2:148714814-148714815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376010476	chr2:148714857-148714858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557594808	chr2:148714868-148714869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533973767	chr2:148714875-148714876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555402704	chr2:148714912-148714913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs17225486	chr2:148714917-148714918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182898638	chr2:148714954-148714955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554662824	chr2:148715024-148715025	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs554310374	chr2:148715037-148715038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11888152	chr2:148715038-148715039	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs533905436	chr2:148715065-148715066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535890913	chr2:148715101-148715102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557399615	chr2:148715174-148715175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575661438	chr2:148715201-148715202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs578193199	chr2:148715238-148715239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17219106	chr2:148715246-148715247	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs557582894	chr2:148715356-148715357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143807114	chr2:148715392-148715393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199657311	chr2:148715415-148715416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373185742	chr2:148715427-148715428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	19904302	CNVD
Intellectual disability	19904302	CNVD
Microcephaly	19904302	CNVD
severe speech impairment	19904302	CNVD
Mental retardation	20152051	CNVD
2q23.1 microdeletion syndrome	18812405	CNVD
Mental retardation	19809484	CNVD
Autism	21981781	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Mental retardation	17847001	CNVD
Hodgkin''s lymphoma	18179710	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148637200-148752600	Weak transcription	Small Intestine	intestine
2	chr2:148647200-148719600	Weak transcription	Pancreas	Pancrea
3	chr2:148650200-148719600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:148653200-148719600	Weak transcription	Esophagus	oesophagus
5	chr2:148658800-148741600	Weak transcription	Aorta	Aorta
6	chr2:148659600-148719800	Weak transcription	Gastric	stomach
7	chr2:148661600-148718200	Weak transcription	Fetal Intestine Small	intestine
8	chr2:148664600-148721200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:148671800-148719600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:148676200-148722400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:148678000-148718200	Weak transcription	Right Ventricle	heart
12	chr2:148679000-148718800	Weak transcription	Fetal Stomach	stomach
13	chr2:148679600-148737200	Weak transcription	Hela-S3	cervix
14	chr2:148681000-148729600	Weak transcription	NHDF-Ad	bronchial
15	chr2:148683000-148725200	Weak transcription	Fetal Heart	heart
16	chr2:148688200-148719800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:148688200-148728600	Weak transcription	NH-A	brain
18	chr2:148688800-148719600	Weak transcription	Thymus	Thymus
19	chr2:148691000-148734600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:148692000-148720200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:148692800-148719400	Weak transcription	HSMMtube	muscle
22	chr2:148693400-148715600	Weak transcription	NHLF	lung
23	chr2:148693400-148722000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:148693800-148724200	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:148694000-148719600	Weak transcription	Fetal Brain Female	brain
26	chr2:148694000-148721000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr2:148694000-148725400	Weak transcription	Brain Anterior Caudate	brain
28	chr2:148694000-148731400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:148694200-148777400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:148694400-148720600	Weak transcription	Ovary	ovary
31	chr2:148694400-148725400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:148694400-148738400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:148694400-148741000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr2:148694400-148741200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr2:148694600-148720400	Weak transcription	Lung	lung
36	chr2:148694600-148731600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:148695000-148746800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:148696600-148721400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr2:148698000-148734000	Weak transcription	Brain Angular Gyrus	brain
40	chr2:148701000-148728200	Weak transcription	Osteobl	bone
41	chr2:148701000-148730200	Weak transcription	Placenta	Placenta
42	chr2:148703200-148718400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:148707000-148719600	Weak transcription	Spleen	Spleen
44	chr2:148707200-148719400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:148707600-148732200	Weak transcription	Stomach Mucosa	stomach
46	chr2:148708200-148714800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:148708600-148719400	Weak transcription	Brain Germinal Matrix	brain
48	chr2:148708800-148715200	Weak transcription	Primary B cells from cord blood	blood
49	chr2:148709000-148714000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:148709000-148718800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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