Variant report

Variant	esv3395498
Chromosome Location	chr3:138414702-138415325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:138327469..138329093-chr3:138413776..138415351,2	MCF-7	breast:
2	chr3:138413968..138415862-chr3:138629102..138631519,2	MCF-7	breast:
3	chr3:138413089..138415203-chr3:138417956..138419845,2	K562	blood:

Variant related genes	Relation type
ENSG00000158234	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367989795	chr3:138414771-138414772	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs140917850	chr3:138414772-138414773	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs9837957	chr3:138414773-138414774	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs35555506	chr3:138414774-138414775	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs112276986	chr3:138414794-138414795	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs34470924	chr3:138414796-138414797	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369614164	chr3:138414811-138414812	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs141311940	chr3:138414895-138414896	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs571230133	chr3:138414943-138414944	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs361078	chr3:138414947-138414948	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs568733172	chr3:138414973-138414974	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs537615464	chr3:138414984-138414985	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs533519201	chr3:138415002-138415003	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200970812	chr3:138415038-138415039	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs9851988	chr3:138415045-138415046	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs187245	chr3:138415072-138415073	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs361079	chr3:138415095-138415096	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs113594346	chr3:138415100-138415101	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs147579967	chr3:138415142-138415143	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs377027361	chr3:138415173-138415174	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs148812894	chr3:138415216-138415217	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs188180457	chr3:138415231-138415232	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs556263103	chr3:138415247-138415248	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs150075936	chr3:138415261-138415262	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs544770309	chr3:138415299-138415300	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs138381229	chr3:138415316-138415317	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138364400-138459200	Weak transcription	Psoas Muscle	Psoas
2	chr3:138368800-138422600	Weak transcription	Right Atrium	heart
3	chr3:138369000-138493000	Weak transcription	Fetal Lung	lung
4	chr3:138369200-138428800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:138369200-138435600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:138375200-138429000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:138383200-138448200	Weak transcription	Gastric	stomach
8	chr3:138383400-138426400	Weak transcription	Spleen	Spleen
9	chr3:138383400-138443000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:138385000-138418400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr3:138390800-138459600	Weak transcription	Right Ventricle	heart
12	chr3:138391200-138422000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:138393800-138515000	Weak transcription	Aorta	Aorta
14	chr3:138394000-138418600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:138395200-138436800	Weak transcription	Brain Germinal Matrix	brain
16	chr3:138395800-138444800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:138395800-138459800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr3:138395800-138480200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr3:138396000-138436400	Weak transcription	Fetal Brain Female	brain
20	chr3:138396000-138469200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:138396200-138422800	Weak transcription	Colonic Mucosa	Colon
22	chr3:138396200-138443200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr3:138396200-138469200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:138396200-138486400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr3:138396200-138487000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr3:138397200-138434400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr3:138399600-138443400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:138400200-138418600	Weak transcription	Fetal Stomach	stomach
29	chr3:138400600-138418400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr3:138400600-138442800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:138401600-138436600	Weak transcription	Brain Hippocampus Middle	brain
32	chr3:138401800-138442800	Weak transcription	Brain Angular Gyrus	brain
33	chr3:138402000-138442800	Weak transcription	Brain Substantia Nigra	brain
34	chr3:138402200-138431000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr3:138403600-138415400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr3:138403800-138418000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr3:138404800-138442200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:138405800-138418400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr3:138406000-138418200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr3:138406000-138432600	Weak transcription	Fetal Kidney	kidney
41	chr3:138406200-138415400	Weak transcription	Dnd41	blood
42	chr3:138406600-138416200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr3:138406600-138420800	Weak transcription	Primary B cells from cord blood	blood
44	chr3:138406600-138420800	Weak transcription	Esophagus	oesophagus
45	chr3:138406800-138415400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:138406800-138416400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr3:138406800-138442200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr3:138407000-138421200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr3:138407200-138422600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr3:138408000-138479800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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