Variant report

Variant	esv3410886
Chromosome Location	chr3:100433429-100433819
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:100428095..100432338-chr3:100432996..100435628,5	K562	blood:
2	chr3:100419538..100421699-chr3:100430283..100434420,3	MCF-7	breast:
3	chr3:100432153..100434876-chr3:100437236..100438974,2	MCF-7	breast:
4	chr3:100432846..100436544-chr3:100436912..100439975,5	K562	blood:

Variant related genes	Relation type
ENSG00000114354	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7650690	chr3:100433429-100433430	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537106350	chr3:100433477-100433478	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs558649342	chr3:100433478-100433479	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368907613	chr3:100433500-100433501	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs591728	chr3:100433592-100433593	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs534731722	chr3:100433616-100433617	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553381753	chr3:100433650-100433651	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs182764806	chr3:100433659-100433660	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs376385254	chr3:100433681-100433682	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs115858291	chr3:100433707-100433708	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs555518087	chr3:100433726-100433727	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs563867321	chr3:100433732-100433733	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs575924374	chr3:100433738-100433739	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560196123	chr3:100433757-100433758	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs7653531	chr3:100433797-100433798	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs564998300	chr3:100433802-100433803	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	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
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100429600-100436800	Weak transcription	Pancreas	Pancrea
2	chr3:100429600-100439200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:100429600-100454400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:100429800-100439200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:100429800-100439200	Weak transcription	Aorta	Aorta
6	chr3:100429800-100439200	Weak transcription	Esophagus	oesophagus
7	chr3:100429800-100440000	Weak transcription	Brain Germinal Matrix	brain
8	chr3:100429800-100444600	Weak transcription	Brain Angular Gyrus	brain
9	chr3:100429800-100454400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:100429800-100455200	Weak transcription	Brain Substantia Nigra	brain
11	chr3:100429800-100475000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:100430000-100433800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:100430000-100436000	Weak transcription	Stomach Mucosa	stomach
14	chr3:100430000-100436800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:100430000-100436800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr3:100430000-100440800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:100430200-100434000	Weak transcription	Gastric	stomach
18	chr3:100430200-100440200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:100430200-100445000	Weak transcription	Fetal Brain Male	brain
20	chr3:100430400-100433600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:100430400-100473000	Strong transcription	Fetal Thymus	thymus
22	chr3:100430600-100434000	Weak transcription	HSMMtube	muscle
23	chr3:100430600-100436400	Strong transcription	HSMM	muscle
24	chr3:100430600-100448200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:100430800-100433800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr3:100430800-100434000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:100430800-100436000	Strong transcription	A549	lung
28	chr3:100430800-100444800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr3:100431000-100433600	Weak transcription	NHDF-Ad	bronchial
30	chr3:100431000-100433800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr3:100431000-100434000	Weak transcription	Fetal Brain Female	brain
32	chr3:100431000-100435600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr3:100431000-100436800	Weak transcription	Psoas Muscle	Psoas
34	chr3:100431000-100437600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:100431000-100439200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr3:100431000-100454400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr3:100431200-100433800	Weak transcription	Primary T cells from cord blood	blood
38	chr3:100431200-100436000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr3:100431200-100473000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr3:100431400-100433800	Strong transcription	Hela-S3	cervix
41	chr3:100431400-100434000	Weak transcription	HMEC	breast
42	chr3:100431400-100452400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr3:100431800-100433800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr3:100431800-100434000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr3:100431800-100435800	Strong transcription	Primary B cells from peripheral blood	blood
46	chr3:100431800-100438200	Strong transcription	Primary B cells from cord blood	blood
47	chr3:100432000-100433600	Weak transcription	HepG2	liver
48	chr3:100432000-100435000	Strong transcription	NHEK	skin
49	chr3:100432000-100435600	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr3:100432000-100435600	Weak transcription	Colon Smooth Muscle	Colon

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