Variant report

Variant	esv3460930
Chromosome Location	chr2:171789524-171790122
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171786681..171789668-chr2:172749612..172751986,2	K562	blood:
2	chr2:171789845..171791695-chr2:171813662..171815924,2	K562	blood:
3	chr2:171788393..171792186-chr2:171793028..171799958,7	MCF-7	breast:
4	chr2:171764593..171767413-chr2:171787705..171789524,2	K562	blood:
5	chr2:171789901..171791670-chr2:171818002..171819577,2	K562	blood:

Variant related genes	Relation type
ENSG00000115840	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35969498	chr2:171789559-171789560	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs190609924	chr2:171789565-171789566	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs146562560	chr2:171789574-171789575	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs73976223	chr2:171789596-171789597	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs201027431	chr2:171789619-171789620	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs186989164	chr2:171789702-171789703	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76446347	chr2:171789708-171789709	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189837346	chr2:171789724-171789725	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577553367	chr2:171789731-171789732	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557055591	chr2:171789846-171789847	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544734917	chr2:171789853-171789854	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565822412	chr2:171789899-171789900	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576911946	chr2:171789912-171789913	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141017164	chr2:171789998-171789999	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536514230	chr2:171790064-171790065	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144818593	chr2:171790086-171790087	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561237263	chr2:171790097-171790098	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6433267	chr2:171790103-171790104	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171787000-171793800	Weak transcription	Gastric	stomach
2	chr2:171787000-171810400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:171787200-171790800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:171787200-171791000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:171787200-171791400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:171787200-171793200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:171787200-171793800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:171787200-171795200	Weak transcription	Ovary	ovary
9	chr2:171787400-171790200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr2:171787400-171790600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:171787400-171790800	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:171787400-171790800	Weak transcription	Pancreas	Pancrea
13	chr2:171787400-171791000	Weak transcription	Lung	lung
14	chr2:171787400-171791200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr2:171787400-171791400	Weak transcription	Thymus	Thymus
16	chr2:171787400-171792200	Weak transcription	Fetal Thymus	thymus
17	chr2:171787400-171792800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:171787400-171792800	Weak transcription	Spleen	Spleen
19	chr2:171787400-171793000	Weak transcription	Placenta	Placenta
20	chr2:171787400-171806000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:171787400-171806000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:171787400-171806000	Weak transcription	Esophagus	oesophagus
23	chr2:171787400-171806000	Weak transcription	Psoas Muscle	Psoas
24	chr2:171787400-171807200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:171787400-171808200	Weak transcription	Aorta	Aorta
26	chr2:171787400-171810000	Weak transcription	Small Intestine	intestine
27	chr2:171787600-171790200	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr2:171787600-171790600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr2:171787600-171790600	Enhancers	Liver	Liver
30	chr2:171787600-171791000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:171787600-171791000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:171787600-171793200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr2:171787600-171793800	Weak transcription	Right Ventricle	heart
34	chr2:171787600-171796600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr2:171787600-171806800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:171787600-171807600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:171787600-171829800	Weak transcription	Right Atrium	heart
38	chr2:171787800-171790000	Enhancers	Primary T cells from cord blood	blood
39	chr2:171787800-171790000	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr2:171787800-171790200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr2:171787800-171792000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:171787800-171795000	Weak transcription	Adipose Nuclei	Adipose
43	chr2:171787800-171795800	Weak transcription	Primary B cells from cord blood	blood
44	chr2:171787800-171798800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:171787800-171806000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:171787800-171806000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr2:171787800-171806200	Weak transcription	Fetal Kidney	kidney
48	chr2:171787800-171806600	Weak transcription	Fetal Brain Female	brain
49	chr2:171787800-171807000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr2:171787800-171807400	Weak transcription	Brain Germinal Matrix	brain

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