Variant report

Variant	esv3394921
Chromosome Location	chr2:172414763-172415054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172376132..172377971-chr2:172413004..172415455,2	MCF-7	breast:
2	chr2:172415047..172416948-chr2:172421337..172423038,2	K562	blood:
3	chr2:172414511..172416041-chr2:172948107..172950516,2	K562	blood:
4	chr2:172401705..172405203-chr2:172412295..172415295,3	K562	blood:

Variant related genes	Relation type
ENSG00000144355	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569797195	chr2:172414822-172414823	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs531019355	chr2:172414823-172414824	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs140487640	chr2:172414829-172414830	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567784196	chr2:172414846-172414847	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs563191207	chr2:172414862-172414863	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs190000826	chr2:172414868-172414869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs547028376	chr2:172414879-172414880	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200977868	chr2:172414895-172414896	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs68035676	chr2:172414899-172414900	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs1850032	chr2:172414922-172414923	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
11	rs72147346	chr2:172414928-172414929	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs370799029	chr2:172414931-172414932	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs375451147	chr2:172414934-172414935	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs374211358	chr2:172414937-172414938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs367638758	chr2:172414948-172414949	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs12614720	chr2:172414951-172414952	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs368916942	chr2:172414954-172414955	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs1850033	chr2:172414955-172414956	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs371480666	chr2:172414965-172414966	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs59878402	chr2:172414968-172414969	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs57247758	chr2:172414976-172414977	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372253169	chr2:172414981-172414982	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375903781	chr2:172414984-172414985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs368548301	chr2:172414987-172414988	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs372818838	chr2:172414995-172414996	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs188363834	chr2:172415011-172415012	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
27	rs191516412	chr2:172415019-172415020	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
28	rs115620774	chr2:172415025-172415026	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
29	rs374488960	chr2:172415031-172415032	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs11889213	chr2:172415038-172415039	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs183733947	chr2:172415039-172415040	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172386400-172419800	Weak transcription	Lung	lung
2	chr2:172388800-172414800	Weak transcription	Brain Angular Gyrus	brain
3	chr2:172388800-172414800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:172400000-172416400	Weak transcription	Gastric	stomach
5	chr2:172410000-172415600	Weak transcription	NHEK	skin
6	chr2:172410800-172415800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:172411800-172415000	Weak transcription	K562	blood
8	chr2:172411800-172419000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:172412200-172415000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:172412400-172414800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:172412400-172415600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:172412400-172416000	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:172412400-172416400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:172412400-172417400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:172412600-172414800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:172412600-172415200	Weak transcription	Brain Substantia Nigra	brain
17	chr2:172412600-172415600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:172412600-172415600	Weak transcription	Right Ventricle	heart
19	chr2:172412600-172415600	Weak transcription	Osteobl	bone
20	chr2:172412600-172415800	Weak transcription	HUVEC	blood vessel
21	chr2:172412600-172416800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:172412600-172420000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:172412800-172415000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:172412800-172415000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:172412800-172416800	Weak transcription	Ovary	ovary
26	chr2:172412800-172417200	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:172412800-172417600	Weak transcription	NHDF-Ad	bronchial
28	chr2:172412800-172418800	Weak transcription	NHLF	lung
29	chr2:172412800-172421200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:172412800-172421200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:172413000-172415600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:172413000-172420800	Weak transcription	Aorta	Aorta
33	chr2:172413200-172416200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:172413400-172414800	Weak transcription	Fetal Lung	lung
35	chr2:172413400-172416000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:172413400-172418400	Weak transcription	Left Ventricle	heart
37	chr2:172413600-172415200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:172413600-172415400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:172413600-172415800	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:172413600-172417200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:172413600-172422400	Weak transcription	Adipose Nuclei	Adipose
42	chr2:172414200-172416000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:172414200-172420000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:172414400-172416000	Weak transcription	HSMMtube	muscle
45	chr2:172414400-172416200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:172414400-172416200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr2:172414400-172416400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:172414600-172415400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:172415000-172415400	Enhancers	K562	blood
50	chr2:172415000-172415600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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