Variant report

Variant	esv3429126
Chromosome Location	chr2:173316622-173317462
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173317241..173319524-chr2:173329311..173331759,2	K562	blood:
2	chr2:173314991..173316624-chr2:173316906..173318533,2	MCF-7	breast:
3	chr2:173314991..173316624-chr2:173316906..173318533,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232788	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375879036	chr2:173316661-173316662	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186711894	chr2:173316674-173316675	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532125916	chr2:173316685-173316686	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550368418	chr2:173316704-173316705	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568798781	chr2:173316711-173316712	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536193564	chr2:173316725-173316726	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112829125	chr2:173316743-173316744	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548146267	chr2:173316750-173316751	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs16860416	chr2:173316788-173316789	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs533798035	chr2:173316803-173316804	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558343039	chr2:173316815-173316816	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570566993	chr2:173316816-173316817	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190374586	chr2:173316857-173316858	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182004647	chr2:173316869-173316870	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575208836	chr2:173316870-173316871	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550595819	chr2:173316895-173316896	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372900829	chr2:173316897-173316898	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186325452	chr2:173316917-173316918	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144138582	chr2:173316921-173316922	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554123068	chr2:173316944-173316945	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572320019	chr2:173316991-173316992	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539501269	chr2:173317086-173317087	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs376169825	chr2:173317093-173317094	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs535038731	chr2:173317112-173317113	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs370836052	chr2:173317122-173317123	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs78804400	chr2:173317139-173317140	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs564198056	chr2:173317174-173317175	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs531728724	chr2:173317205-173317206	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191072707	chr2:173317319-173317320	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs7565670	chr2:173317373-173317374	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs529921758	chr2:173317396-173317397	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs10197251	chr2:173317410-173317411	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
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
Breast cancer	22522925	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173305000-173316800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:173307200-173318600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:173307400-173322400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:173307600-173321000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:173309000-173317000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:173310400-173318000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr2:173310800-173317000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:173310800-173318200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:173310800-173318600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:173310800-173319800	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:173310800-173320000	Weak transcription	Lung	lung
12	chr2:173310800-173322400	Weak transcription	Thymus	Thymus
13	chr2:173311400-173318000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr2:173311600-173317200	Weak transcription	Liver	Liver
15	chr2:173311600-173319000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:173311600-173319200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:173311600-173319200	Weak transcription	HUVEC	blood vessel
18	chr2:173311800-173317200	Weak transcription	Fetal Thymus	thymus
19	chr2:173311800-173319200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:173312200-173317000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:173312200-173319400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:173312200-173323600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:173312400-173319200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:173313200-173319800	Weak transcription	Fetal Kidney	kidney
25	chr2:173313400-173317000	Weak transcription	Fetal Lung	lung
26	chr2:173313600-173323400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:173313800-173316800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:173313800-173319200	Weak transcription	HepG2	liver
29	chr2:173314000-173318600	Weak transcription	Colonic Mucosa	Colon
30	chr2:173314200-173319200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:173314200-173319200	Weak transcription	Hela-S3	cervix
32	chr2:173314400-173317200	Weak transcription	Right Ventricle	heart
33	chr2:173314400-173317400	Weak transcription	Fetal Intestine Large	intestine
34	chr2:173314400-173318600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr2:173314400-173319400	Weak transcription	Fetal Intestine Small	intestine
36	chr2:173314600-173316800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:173314800-173319000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:173315000-173317800	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr2:173315000-173320000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:173315000-173320800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:173315200-173316800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:173315200-173317000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:173315200-173317000	Weak transcription	Esophagus	oesophagus
44	chr2:173315200-173317000	Weak transcription	Psoas Muscle	Psoas
45	chr2:173315200-173317000	Weak transcription	Stomach Mucosa	stomach
46	chr2:173315200-173317200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:173315200-173318000	Weak transcription	Small Intestine	intestine
48	chr2:173315200-173318200	Enhancers	Primary T cells fromperipheralblood	blood
49	chr2:173315200-173319400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:173315200-173324800	Genic enhancers	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links