Variant report

Variant	esv1362713
Chromosome Location	chr2:173461004-173461005
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 46 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531641158	chr2:173461004-173461005	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

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
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173421800-173465200	Weak transcription	Small Intestine	intestine
2	chr2:173430600-173461600	Weak transcription	Right Ventricle	heart
3	chr2:173431400-173480600	Weak transcription	Gastric	stomach
4	chr2:173432000-173462400	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:173440200-173467600	Weak transcription	NH-A	brain
6	chr2:173443200-173472200	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:173443800-173463200	Weak transcription	A549	lung
8	chr2:173444000-173464000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:173444200-173470400	Weak transcription	Psoas Muscle	Psoas
10	chr2:173444400-173480200	Strong transcription	HepG2	liver
11	chr2:173444600-173465400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:173445200-173463200	Weak transcription	Fetal Brain Female	brain
13	chr2:173445400-173462600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:173445400-173471000	Weak transcription	Brain Substantia Nigra	brain
15	chr2:173448000-173463400	Weak transcription	Stomach Mucosa	stomach
16	chr2:173449400-173462400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:173449800-173462800	Strong transcription	Primary B cells from cord blood	blood
18	chr2:173451200-173465200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:173451600-173462800	Strong transcription	Primary T cells from cord blood	blood
20	chr2:173451600-173463400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:173451800-173471800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:173452000-173479800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:173452200-173462400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:173452200-173463600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:173452400-173469400	Weak transcription	Lung	lung
26	chr2:173452800-173462800	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr2:173452800-173462800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:173452800-173478000	Weak transcription	Fetal Brain Male	brain
29	chr2:173452800-173478600	Weak transcription	Spleen	Spleen
30	chr2:173453800-173461200	Weak transcription	Fetal Heart	heart
31	chr2:173453800-173463400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:173453800-173472400	Weak transcription	Brain Angular Gyrus	brain
33	chr2:173453800-173478600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:173454000-173463800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:173454000-173464200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:173454000-173471600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:173454200-173461800	Weak transcription	Placenta	Placenta
38	chr2:173454200-173465200	Weak transcription	Fetal Lung	lung
39	chr2:173454200-173475200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:173454400-173461800	Weak transcription	Aorta	Aorta
41	chr2:173454400-173477800	Weak transcription	Pancreas	Pancrea
42	chr2:173454400-173479800	Weak transcription	Esophagus	oesophagus
43	chr2:173454400-173489000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:173454600-173477800	Weak transcription	NHLF	lung
45	chr2:173454800-173475200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:173454800-173477800	Weak transcription	Colonic Mucosa	Colon
47	chr2:173454800-173488200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr2:173455200-173480200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:173455400-173478400	Weak transcription	Fetal Muscle Leg	muscle
50	chr2:173455800-173465400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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