Variant report

Variant	esv3417350
Chromosome Location	chr5:96084127-96084361
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	chr5:96077958..96080707-chr5:96081182..96084151,3	K562	blood:
2	chr5:96079226..96082285-chr5:96084181..96086701,4	K562	blood:

Variant related genes	Relation type
ENSG00000249180	chromatin interactions
ENSG00000153113	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185672908	chr5:96084148-96084149	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs201936282	chr5:96084180-96084181	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547689098	chr5:96084194-96084195	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs201614165	chr5:96084218-96084219	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs533401908	chr5:96084228-96084229	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs145309877	chr5:96084244-96084245	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs138047678	chr5:96084270-96084271	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142513839	chr5:96084271-96084272	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs1697122	chr5:96084275-96084276	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs1643702	chr5:96084276-96084277	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567491417	chr5:96084300-96084301	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs534988266	chr5:96084308-96084309	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112668934	chr5:96084319-96084320	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200802032	chr5:96084325-96084326	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs189188827	chr5:96084348-96084349	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96057800-96098600	Weak transcription	Fetal Brain Male	brain
2	chr5:96063000-96126200	Weak transcription	Brain Germinal Matrix	brain
3	chr5:96064600-96092600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:96068200-96095400	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr5:96068200-96100400	Strong transcription	Liver	Liver
6	chr5:96068400-96138200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr5:96068600-96130000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:96069400-96094000	Strong transcription	Fetal Muscle Leg	muscle
9	chr5:96069600-96094000	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:96070200-96087800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr5:96070200-96116400	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr5:96070800-96095400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr5:96071000-96112800	Strong transcription	Hela-S3	cervix
14	chr5:96071200-96085000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:96071200-96088000	Strong transcription	A549	lung
16	chr5:96071200-96094000	Strong transcription	HSMM	muscle
17	chr5:96071400-96113000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:96071400-96126600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:96071600-96103200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr5:96071800-96084200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:96072400-96086400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:96072400-96088400	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr5:96072600-96115600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:96072800-96086400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:96072800-96087800	Strong transcription	NHLF	lung
26	chr5:96072800-96094600	Strong transcription	Fetal Muscle Trunk	muscle
27	chr5:96072800-96095200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr5:96072800-96095200	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr5:96073200-96086600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:96073400-96087600	Strong transcription	Ovary	ovary
31	chr5:96073400-96088000	Strong transcription	Fetal Lung	lung
32	chr5:96073400-96115600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:96073600-96087200	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr5:96075200-96120400	Weak transcription	Fetal Brain Female	brain
35	chr5:96075400-96086400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:96075800-96094800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:96076000-96093400	Strong transcription	Primary T cells from cord blood	blood
38	chr5:96076200-96084200	Strong transcription	HepG2	liver
39	chr5:96076200-96088200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr5:96077200-96085400	Strong transcription	Brain Cingulate Gyrus	brain
41	chr5:96078000-96088000	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr5:96078000-96111200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:96078400-96092600	Weak transcription	Thymus	Thymus
44	chr5:96078600-96095000	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr5:96079400-96085400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:96079400-96093400	Strong transcription	NHEK	skin
47	chr5:96079400-96094000	Strong transcription	Lung	lung
48	chr5:96079400-96094200	Strong transcription	Osteobl	bone
49	chr5:96079400-96094800	Strong transcription	Primary B cells from cord blood	blood
50	chr5:96079400-96096000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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