Variant report

Variant	esv3373159
Chromosome Location	chr3:178881284-178881608
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:178872334..178874182-chr3:178879861..178881985,2	K562	blood:
2	chr3:178872506..178874182-chr3:178879392..178881985,2	K562	blood:
3	chr3:178876264..178878992-chr3:178879301..178882016,3	K562	blood:
4	chr3:178865580..178867325-chr3:178880643..178882507,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121879	chromatin interactions
ENSG00000229102	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538978385	chr3:178881334-178881335	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs373057994	chr3:178881358-178881359	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs78507900	chr3:178881414-178881415	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs76984943	chr3:178881439-178881440	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs9871768	chr3:178881493-178881494	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs150067831	chr3:178881497-178881498	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs4854940	chr3:178881517-178881518	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs559938880	chr3:178881533-178881534	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs371640748	chr3:178881542-178881543	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs528758055	chr3:178881571-178881572	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	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
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Endometrial cancer	19261849	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	18632612	CNVD
Autism	20685689	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Human papillomavirus	17975027	CNVD
Adenocarcinoma	18757405	CNVD
Lung cancer	18757405	CNVD
Squamous cell cancer	18757405	CNVD
small cell lung cancer	18757405	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178867600-178882400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:178867600-178883400	Weak transcription	Stomach Mucosa	stomach
3	chr3:178867800-178900200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:178868000-178892400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr3:178868600-178881400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:178868600-178893000	Weak transcription	Aorta	Aorta
7	chr3:178869200-178898000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr3:178869400-178887200	Weak transcription	Fetal Brain Male	brain
9	chr3:178869800-178883400	Weak transcription	Liver	Liver
10	chr3:178870800-178896400	Weak transcription	K562	blood
11	chr3:178872400-178883200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:178874600-178883000	Weak transcription	Colon Smooth Muscle	Colon
13	chr3:178874800-178883400	Weak transcription	Fetal Kidney	kidney
14	chr3:178874800-178888600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr3:178876800-178884200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr3:178877000-178883400	Weak transcription	Fetal Heart	heart
17	chr3:178877400-178897800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:178879000-178882400	Weak transcription	Ovary	ovary
19	chr3:178879000-178883200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:178879000-178883200	Weak transcription	Psoas Muscle	Psoas
21	chr3:178879000-178885600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr3:178879200-178881800	Weak transcription	Primary T cells from cord blood	blood
23	chr3:178879200-178882800	Weak transcription	Adipose Nuclei	Adipose
24	chr3:178879200-178883800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:178879200-178891800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr3:178879400-178882200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr3:178879400-178882800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr3:178879400-178892000	Weak transcription	Lung	lung
29	chr3:178879400-178896400	Weak transcription	Right Atrium	heart
30	chr3:178879600-178883400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr3:178879600-178896400	Weak transcription	Left Ventricle	heart
32	chr3:178880400-178881600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr3:178880400-178881600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr3:178880400-178881800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr3:178880400-178887800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr3:178880800-178883200	Enhancers	Primary B cells from cord blood	blood
37	chr3:178881000-178881600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr3:178881000-178881600	Enhancers	GM12878-XiMat	blood
39	chr3:178881000-178885800	Enhancers	Primary B cells from peripheral blood	blood
40	chr3:178881200-178881400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:178881200-178884200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:178881600-178881800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr3:178881600-178881800	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr3:178881600-178883800	Weak transcription	GM12878-XiMat	blood

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