Variant report

Variant	esv3354950
Chromosome Location	chr2:172342591-172343517
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	chr2:172343289-172343418	SH-SY5Y	brain:	n/a	n/a
2	MAFK	chr2:172342611-172342814	HepG2	liver:	n/a	chr2:172342738-172342749 chr2:172342737-172342748 chr2:172342736-172342750 chr2:172342738-172342749 chr2:172342733-172342749
3	POLR2A	chr2:172342842-172343171	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:172343514-172343562	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:172342986-172343640	K562	blood:	n/a	n/a
6	POLR2A	chr2:172342400-172342668	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172337093..172339286-chr2:172342901..172345235,2	K562	blood:
2	chr2:172337490..172340413-chr2:172341579..172343907,2	K562	blood:

Variant related genes	Relation type
DAP3P2	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187371240	chr2:172342608-172342609	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs58806459	chr2:172342641-172342642	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs540305230	chr2:172342668-172342669	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201445013	chr2:172342677-172342678	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72237176	chr2:172342684-172342685	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34316002	chr2:172342691-172342692	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199572740	chr2:172342692-172342693	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564845982	chr2:172342816-172342817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142641856	chr2:172342817-172342818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541600259	chr2:172342827-172342828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567261343	chr2:172342828-172342829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550309951	chr2:172342846-172342847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145952646	chr2:172342862-172342863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529977321	chr2:172342905-172342906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547967533	chr2:172342910-172342911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376756357	chr2:172342927-172342928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533759311	chr2:172342954-172342955	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs190729839	chr2:172342996-172342997	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs368065483	chr2:172343003-172343004	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs536286669	chr2:172343004-172343005	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs372158032	chr2:172343012-172343013	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs376429479	chr2:172343017-172343018	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs183196943	chr2:172343027-172343028	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs575172582	chr2:172343036-172343037	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs536185720	chr2:172343038-172343039	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs554530382	chr2:172343088-172343089	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs62183537	chr2:172343106-172343107	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs148190437	chr2:172343111-172343112	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs146645275	chr2:172343236-172343237	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs77033804	chr2:172343237-172343238	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs398071435	chr2:172343240-172343241	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs72625234	chr2:172343241-172343242	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs140470891	chr2:172343300-172343301	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs376359964	chr2:172343301-172343302	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs372613347	chr2:172343335-172343336	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs141207248	chr2:172343428-172343429	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs544185320	chr2:172343444-172343445	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs189237757	chr2:172343451-172343452	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs76077445	chr2:172343452-172343453	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs112892042	chr2:172343509-172343510	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs143349057	chr2:172343510-172343511	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs59559275	chr2:172343511-172343512	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs200562186	chr2:172343512-172343513	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs201054185	chr2:172343514-172343515	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:45)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	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
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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	21384125	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172306000-172348000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:172309600-172348400	Weak transcription	Fetal Heart	heart
3	chr2:172327000-172346800	Weak transcription	Colonic Mucosa	Colon
4	chr2:172327200-172344000	Weak transcription	Gastric	stomach
5	chr2:172327200-172346600	Weak transcription	Thymus	Thymus
6	chr2:172327200-172348800	Weak transcription	Spleen	Spleen
7	chr2:172327400-172343400	Weak transcription	A549	lung
8	chr2:172327400-172346800	Weak transcription	Hela-S3	cervix
9	chr2:172327400-172347600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:172327600-172344800	Weak transcription	Brain Anterior Caudate	brain
11	chr2:172327800-172346000	Weak transcription	Fetal Brain Male	brain
12	chr2:172330400-172346200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:172331400-172345800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:172331800-172343400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:172332200-172342800	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:172332200-172344000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:172332800-172343600	Weak transcription	Fetal Kidney	kidney
18	chr2:172333400-172345400	Weak transcription	NHDF-Ad	bronchial
19	chr2:172333400-172347800	Weak transcription	Brain Angular Gyrus	brain
20	chr2:172334600-172349200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:172334800-172345000	Weak transcription	Fetal Intestine Small	intestine
22	chr2:172334800-172345200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:172334800-172346200	Weak transcription	Psoas Muscle	Psoas
24	chr2:172334800-172346800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:172334800-172347200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:172334800-172349200	Weak transcription	Esophagus	oesophagus
27	chr2:172335000-172345000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:172335200-172346400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:172335400-172349000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:172335600-172344600	Weak transcription	Osteobl	bone
31	chr2:172337200-172344200	Weak transcription	Liver	Liver
32	chr2:172337600-172344800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:172337800-172344200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:172337800-172348000	Weak transcription	Brain Substantia Nigra	brain
35	chr2:172338000-172343400	Weak transcription	Fetal Lung	lung
36	chr2:172338000-172345000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:172338000-172345600	Weak transcription	Fetal Thymus	thymus
38	chr2:172338000-172349400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:172338200-172347000	Weak transcription	HMEC	breast
40	chr2:172338400-172349800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr2:172338600-172345400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr2:172339000-172342800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr2:172339000-172344800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:172339600-172345400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:172339600-172347800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr2:172339600-172348000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr2:172339800-172348000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:172339800-172350600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr2:172339800-172352200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr2:172340000-172343000	Weak transcription	HSMM	muscle

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