Variant report

Variant	esv3333535
Chromosome Location	chr2:172626971-172627635
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	ARID3A	chr2:172627314-172627323	K562	blood:	n/a	n/a
2	CEBPB	chr2:172626989-172627016	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:172627357-172627399	ProgFib	skin:	n/a	n/a
4	POLR2A	chr2:172627230-172627578	K562	blood:	n/a	n/a
5	POLR2A	chr2:172627284-172627585	GM12878	blood:	n/a	n/a
6	SETDB1	chr2:172627289-172627489	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172621958..172624550-chr2:172626505..172629129,2	K562	blood:
2	chr2:172624804..172627383-chr2:172628518..172631199,2	K562	blood:

Variant related genes	Relation type
ENSG00000228389	TF binding region
ENSG00000228389	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569571654	chr2:172627021-172627022	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs145990229	chr2:172627062-172627063	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555188007	chr2:172627082-172627083	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565222143	chr2:172627104-172627105	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs146422833	chr2:172627117-172627118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs200352542	chr2:172627119-172627120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs374624661	chr2:172627122-172627123	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs573478143	chr2:172627127-172627128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs549346824	chr2:172627168-172627169	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs535151570	chr2:172627171-172627172	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs114969526	chr2:172627172-172627173	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs139984069	chr2:172627259-172627260	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11904009	chr2:172627343-172627344	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs570569674	chr2:172627350-172627351	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs34402252	chr2:172627369-172627370	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576054547	chr2:172627411-172627412	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs543322708	chr2:172627416-172627417	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs561501549	chr2:172627451-172627452	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs528665049	chr2:172627483-172627484	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs541144082	chr2:172627501-172627502	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs186065236	chr2:172627556-172627557	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs559139948	chr2:172627576-172627577	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs141882797	chr2:172627590-172627591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172587800-172640800	Weak transcription	Psoas Muscle	Psoas
2	chr2:172593200-172645000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:172603000-172688400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:172604400-172641200	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:172607400-172627000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:172609600-172628800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:172610200-172651400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:172618000-172639600	Weak transcription	Fetal Heart	heart
9	chr2:172618400-172639800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:172618400-172641000	Weak transcription	Aorta	Aorta
11	chr2:172618800-172640800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:172619000-172627800	Weak transcription	Dnd41	blood
13	chr2:172619000-172630600	Weak transcription	Lung	lung
14	chr2:172619000-172638800	Weak transcription	Primary T cells from cord blood	blood
15	chr2:172619000-172641000	Weak transcription	Spleen	Spleen
16	chr2:172619200-172627000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:172619200-172632400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:172619200-172634600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:172619200-172635000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:172619200-172635200	Weak transcription	A549	lung
21	chr2:172619200-172638600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:172619200-172640800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:172619200-172641000	Weak transcription	Thymus	Thymus
24	chr2:172619200-172641600	Weak transcription	Gastric	stomach
25	chr2:172619200-172641800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:172619400-172627000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:172619400-172627000	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:172619600-172640200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:172620000-172634200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr2:172620200-172627200	Weak transcription	Liver	Liver
31	chr2:172620200-172627200	Weak transcription	Fetal Intestine Small	intestine
32	chr2:172620200-172630800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:172620200-172634600	Weak transcription	Brain Angular Gyrus	brain
34	chr2:172620200-172641400	Weak transcription	NHEK	skin
35	chr2:172620400-172627600	Weak transcription	Brain Anterior Caudate	brain
36	chr2:172620400-172638600	Weak transcription	Primary B cells from cord blood	blood
37	chr2:172620400-172638600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:172620400-172638600	Weak transcription	HSMM	muscle
39	chr2:172620400-172641000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:172620400-172641600	Weak transcription	HUVEC	blood vessel
41	chr2:172620400-172641800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:172620600-172640000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:172620800-172627200	Weak transcription	HepG2	liver
44	chr2:172620800-172634600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:172620800-172634600	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:172620800-172634800	Weak transcription	NHDF-Ad	bronchial
47	chr2:172620800-172639600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:172620800-172640600	Weak transcription	Left Ventricle	heart
49	chr2:172620800-172640800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:172621000-172634400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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