Variant report

Variant	esv1994590
Chromosome Location	chr2:234340624-234341050
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	POLR2A	chr2:234340123-234340705	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234333615..234335569-chr2:234339010..234340778,2	K562	blood:
2	chr2:234329612..234332276-chr2:234340900..234342662,2	K562	blood:

Variant related genes	Relation type
DGKD	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532626599	chr2:234340632-234340633	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs552609843	chr2:234340728-234340729	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146286082	chr2:234340743-234340744	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs58737409	chr2:234340764-234340765	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs560109495	chr2:234340765-234340766	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142516146	chr2:234340769-234340770	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189699088	chr2:234340771-234340772	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11895231	chr2:234340775-234340776	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs376278286	chr2:234340783-234340784	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112225676	chr2:234340798-234340799	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182320160	chr2:234340805-234340806	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572625875	chr2:234340808-234340809	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538300055	chr2:234340812-234340813	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112883427	chr2:234340813-234340814	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112357090	chr2:234340819-234340820	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529862906	chr2:234340823-234340824	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546343362	chr2:234340833-234340834	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75085944	chr2:234340840-234340841	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574752007	chr2:234340846-234340847	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191917141	chr2:234340848-234340849	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551534458	chr2:234340849-234340850	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185229146	chr2:234340853-234340854	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112265433	chr2:234340854-234340855	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552746000	chr2:234340863-234340864	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562838801	chr2:234340865-234340866	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11685829	chr2:234340872-234340873	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
27	rs550875364	chr2:234340873-234340874	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537574951	chr2:234340892-234340893	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11684436	chr2:234340894-234340895	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
30	rs534193211	chr2:234340896-234340897	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188495754	chr2:234340897-234340898	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113741199	chr2:234340903-234340904	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537262857	chr2:234340909-234340910	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549493871	chr2:234340932-234340933	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539633456	chr2:234340933-234340934	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13391773	chr2:234340947-234340948	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113754716	chr2:234340953-234340954	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553563188	chr2:234340957-234340958	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs13410184	chr2:234340967-234340968	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13401910	chr2:234340974-234340975	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs13410192	chr2:234340987-234340988	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
42	rs13391863	chr2:234340988-234340989	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs554240950	chr2:234340997-234340998	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs71421698	chr2:234340999-234341000	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs575611637	chr2:234341006-234341007	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534968380	chr2:234341015-234341016	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112495144	chr2:234341028-234341029	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376538695	chr2:234341044-234341045	Weak transcription Strong transcription Enhancers	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
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Chronic myeloid leukemia	21384125	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234328800-234343000	Weak transcription	Liver	Liver
3	chr2:234329000-234343600	Weak transcription	Fetal Brain Female	brain
4	chr2:234329000-234351600	Weak transcription	Fetal Brain Male	brain
5	chr2:234329200-234343800	Weak transcription	Brain Germinal Matrix	brain
6	chr2:234329200-234344600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:234329400-234343200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:234329400-234343400	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:234329400-234344600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:234329400-234346000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:234330800-234343200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:234331000-234344000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:234331200-234343400	Weak transcription	Thymus	Thymus
14	chr2:234331200-234344000	Weak transcription	Dnd41	blood
15	chr2:234331200-234344600	Weak transcription	Esophagus	oesophagus
16	chr2:234331600-234344400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:234333200-234343200	Weak transcription	HepG2	liver
18	chr2:234333200-234344000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:234333400-234343000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:234333400-234343000	Weak transcription	Colonic Mucosa	Colon
21	chr2:234333400-234343000	Weak transcription	Spleen	Spleen
22	chr2:234333400-234344600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:234333400-234345600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:234333600-234343000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:234333600-234343200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:234333600-234343400	Weak transcription	Lung	lung
27	chr2:234333800-234343800	Weak transcription	Fetal Intestine Large	intestine
28	chr2:234334000-234343400	Weak transcription	Fetal Intestine Small	intestine
29	chr2:234335200-234357600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:234335600-234343200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:234335600-234343600	Strong transcription	Primary B cells from cord blood	blood
32	chr2:234335600-234344000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:234335600-234344000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:234335600-234344800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:234335800-234344200	Weak transcription	Small Intestine	intestine
36	chr2:234336000-234343400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:234336000-234343400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:234336000-234343400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:234336000-234343400	Weak transcription	Aorta	Aorta
40	chr2:234336800-234343200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr2:234336800-234343400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:234337200-234343000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr2:234337200-234343200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:234337400-234343000	Weak transcription	Brain Substantia Nigra	brain
45	chr2:234337400-234343200	Weak transcription	Fetal Stomach	stomach
46	chr2:234337800-234343000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:234337800-234343200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:234338000-234358000	Weak transcription	NH-A	brain
49	chr2:234338400-234343000	Weak transcription	Fetal Thymus	thymus
50	chr2:234338400-234343000	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links