Variant report

Variant	esv3429706
Chromosome Location	chr2:171868525-171869047
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171868893..171871603-chr2:172015110..172017936,2	K562	blood:
2	chr2:171866661..171869512-chr2:171870307..171871815,2	K562	blood:
3	chr2:171843140..171844937-chr2:171867399..171870278,2	K562	blood:
4	chr2:171868508..171870393-chr2:172015110..172017136,2	K562	blood:

Variant related genes	Relation type
ENSG00000198586	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192292693	chr2:171868533-171868534	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs537576222	chr2:171868542-171868543	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184678836	chr2:171868560-171868561	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs76737697	chr2:171868563-171868564	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs72886381	chr2:171868565-171868566	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs200034454	chr2:171868584-171868585	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs2059724	chr2:171868585-171868586	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs572267116	chr2:171868589-171868590	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs187896813	chr2:171868799-171868800	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs532898401	chr2:171868833-171868834	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs575364215	chr2:171868866-171868867	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564447028	chr2:171868960-171868961	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs141009840	chr2:171868963-171868964	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs554935044	chr2:171868977-171868978	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs562158761	chr2:171868995-171868996	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs10193291	chr2:171869003-171869004	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs547927393	chr2:171869042-171869043	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:44)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171830600-171902800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:171830800-171891400	Weak transcription	Spleen	Spleen
3	chr2:171831400-171879200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:171831400-171916200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:171840800-171879200	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:171841000-171877800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:171841000-171895800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:171841600-171940000	Weak transcription	Right Ventricle	heart
9	chr2:171842200-171892000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:171842600-171912000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:171843000-171877400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:171843200-171871800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:171844600-171868800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:171844800-171873000	Strong transcription	GM12878-XiMat	blood
15	chr2:171846000-171898000	Weak transcription	Psoas Muscle	Psoas
16	chr2:171846200-171901000	Weak transcription	Fetal Brain Male	brain
17	chr2:171847200-171871600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:171847400-171871600	Strong transcription	Dnd41	blood
19	chr2:171847400-171902600	Weak transcription	Brain Angular Gyrus	brain
20	chr2:171847600-171871800	Strong transcription	Placenta	Placenta
21	chr2:171847600-171872000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:171847600-171872000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:171847800-171878200	Weak transcription	Stomach Mucosa	stomach
24	chr2:171848200-171869000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:171848800-171873000	Strong transcription	HepG2	liver
26	chr2:171850400-171892000	Weak transcription	Brain Anterior Caudate	brain
27	chr2:171851800-171868800	Strong transcription	Primary B cells from cord blood	blood
28	chr2:171851800-171881800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:171852200-171868800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:171852200-171871600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr2:171853200-171898800	Weak transcription	Aorta	Aorta
32	chr2:171854000-171877400	Weak transcription	NHLF	lung
33	chr2:171855400-171871800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr2:171857200-171871600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:171857200-171871800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:171857800-171870600	Weak transcription	NH-A	brain
37	chr2:171858000-171871000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:171858000-171891800	Weak transcription	Fetal Brain Female	brain
39	chr2:171858000-171892000	Weak transcription	Brain Substantia Nigra	brain
40	chr2:171859000-171871400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:171859400-171892000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:171859600-171871000	Weak transcription	Pancreas	Pancrea
43	chr2:171859600-171872400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:171859600-171876400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:171859600-171897000	Weak transcription	Esophagus	oesophagus
46	chr2:171860000-171876400	Weak transcription	Fetal Stomach	stomach
47	chr2:171860400-171871600	Strong transcription	Primary B cells from peripheral blood	blood
48	chr2:171861600-171877400	Weak transcription	A549	lung
49	chr2:171862200-171869600	Weak transcription	Fetal Intestine Small	intestine
50	chr2:171862200-171874600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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