Variant report

Variant	esv2197353
Chromosome Location	chr3:138224901-138224905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71941022	chr3:138224901-138224902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553799657	chr3:138224903-138224904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138194000-138260200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr3:138208400-138227400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:138209400-138236800	Weak transcription	Aorta	Aorta
4	chr3:138209800-138258600	Weak transcription	Primary T cells from cord blood	blood
5	chr3:138210000-138230200	Weak transcription	Fetal Brain Male	brain
6	chr3:138210400-138236800	Weak transcription	Brain Substantia Nigra	brain
7	chr3:138210400-138242000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr3:138210800-138260600	Weak transcription	Colonic Mucosa	Colon
9	chr3:138211000-138229400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:138211000-138231000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:138211000-138236600	Weak transcription	Spleen	Spleen
12	chr3:138211200-138227200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:138211200-138260600	Weak transcription	Brain Angular Gyrus	brain
14	chr3:138211400-138230400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:138211600-138227400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr3:138211800-138260600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr3:138212000-138235000	Weak transcription	Brain Germinal Matrix	brain
18	chr3:138212000-138235800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr3:138212400-138236600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:138212400-138236600	Weak transcription	Esophagus	oesophagus
21	chr3:138212600-138236600	Weak transcription	Lung	lung
22	chr3:138212600-138250200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr3:138212800-138236800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:138212800-138249800	Weak transcription	Small Intestine	intestine
25	chr3:138213200-138236600	Weak transcription	Ovary	ovary
26	chr3:138213200-138236600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr3:138213200-138243800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr3:138213400-138230200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:138213800-138231200	Weak transcription	Colon Smooth Muscle	Colon
30	chr3:138214200-138229000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:138214200-138229200	Weak transcription	Osteobl	bone
32	chr3:138214200-138232600	Weak transcription	HMEC	breast
33	chr3:138214200-138236600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:138214400-138228600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr3:138214400-138231800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr3:138214400-138260600	Weak transcription	Right Ventricle	heart
37	chr3:138215000-138231800	Weak transcription	Psoas Muscle	Psoas
38	chr3:138215400-138228800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:138215600-138226200	Weak transcription	Fetal Heart	heart
40	chr3:138215600-138236400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr3:138215800-138236600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:138216000-138230600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr3:138216000-138235800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr3:138216200-138230800	Weak transcription	Stomach Mucosa	stomach
45	chr3:138216600-138225600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr3:138216600-138239400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr3:138217000-138236000	Weak transcription	Fetal Intestine Large	intestine
48	chr3:138217000-138237600	Weak transcription	Fetal Kidney	kidney
49	chr3:138217200-138228800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr3:138218200-138239600	Weak transcription	Fetal Brain Female	brain

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