Variant report

Variant	esv2457476
Chromosome Location	chr3:105259960-105259960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:105259203..105260884-chr3:105262936..105265774,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170017	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 56 )

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	rs3836274	chr3:105259960-105259961	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105221400-105300400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:105222200-105260600	Weak transcription	Fetal Kidney	kidney
3	chr3:105223800-105274800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:105229600-105260400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:105230200-105262600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:105232200-105274000	Weak transcription	HSMMtube	muscle
7	chr3:105234200-105260400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:105234600-105260600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:105234600-105261000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:105234600-105274600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:105237800-105274600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:105237800-105275800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr3:105241000-105260400	Weak transcription	Pancreas	Pancrea
14	chr3:105241600-105260200	Weak transcription	HepG2	liver
15	chr3:105242000-105293600	Weak transcription	Lung	lung
16	chr3:105242400-105280400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:105242800-105266800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr3:105244800-105275800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr3:105245600-105260400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:105245800-105260600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr3:105245800-105268000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:105246600-105284400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr3:105247400-105260400	Weak transcription	Brain Anterior Caudate	brain
24	chr3:105248000-105281200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:105248200-105262800	Weak transcription	NHLF	lung
26	chr3:105248400-105291200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr3:105249400-105278600	Weak transcription	Small Intestine	intestine
28	chr3:105249800-105261200	Weak transcription	Fetal Intestine Small	intestine
29	chr3:105249800-105263400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:105249800-105284000	Weak transcription	Fetal Stomach	stomach
31	chr3:105249800-105285200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr3:105250600-105262600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr3:105250600-105270400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr3:105251200-105266400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:105251800-105274400	Weak transcription	Dnd41	blood
36	chr3:105252600-105263400	Weak transcription	Left Ventricle	heart
37	chr3:105253200-105273000	Weak transcription	Gastric	stomach
38	chr3:105253600-105260400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:105253600-105260400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:105253800-105260400	Weak transcription	Aorta	Aorta
41	chr3:105253800-105270000	Weak transcription	Fetal Intestine Large	intestine
42	chr3:105254000-105273000	Weak transcription	Fetal Lung	lung
43	chr3:105254800-105279800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr3:105255800-105260400	Weak transcription	HSMM	muscle
45	chr3:105256200-105268200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:105256400-105260600	Weak transcription	NHEK	skin
47	chr3:105256600-105260400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr3:105257200-105269400	Weak transcription	Fetal Heart	heart
49	chr3:105257400-105272400	Weak transcription	NHDF-Ad	bronchial
50	chr3:105257600-105260400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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