Variant report

Variant	esv1793809
Chromosome Location	chr5:94956266-94962981
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:94959437..94960992-chr5:94968032..94970873,2	K562	blood:
2	chr5:94889800..94892273-chr5:94955578..94957837,2	MCF-7	breast:
3	chr5:94951476..94954294-chr5:94957994..94960881,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164291	chromatin interactions
ENSG00000198677	chromatin interactions

Extended variants
information (count: 220 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:220 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112840250	chr5:94956313-94956314	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs566737769	chr5:94956329-94956330	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs7733295	chr5:94956345-94956346	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs13169194	chr5:94956396-94956397	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs548880276	chr5:94956427-94956428	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs568682063	chr5:94956468-94956469	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs537651968	chr5:94956496-94956497	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs557387695	chr5:94956550-94956551	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs564827254	chr5:94956555-94956556	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs113272282	chr5:94956619-94956620	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs201254414	chr5:94956634-94956635	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs376668578	chr5:94956727-94956728	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs369838352	chr5:94956781-94956782	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs573469225	chr5:94956782-94956783	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs116554559	chr5:94956783-94956784	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs562391621	chr5:94956857-94956858	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs575862620	chr5:94956921-94956922	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs201990735	chr5:94956923-94956924	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs544830129	chr5:94956941-94956942	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs367933080	chr5:94956983-94956984	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs564595317	chr5:94956991-94956992	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs151062094	chr5:94956993-94956994	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs546956925	chr5:94957041-94957042	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs185804545	chr5:94957045-94957046	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs201350150	chr5:94957049-94957050	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs375018988	chr5:94957071-94957072	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs548816941	chr5:94957108-94957109	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs568818991	chr5:94957115-94957116	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs367670119	chr5:94957181-94957182	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs371928703	chr5:94957212-94957213	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs551331058	chr5:94957228-94957229	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs375715217	chr5:94957237-94957238	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs373822124	chr5:94957260-94957261	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs370117601	chr5:94957262-94957263	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs373064537	chr5:94957299-94957300	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs377032644	chr5:94957303-94957304	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs553849794	chr5:94957323-94957324	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs573531346	chr5:94957324-94957325	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs139806685	chr5:94957330-94957331	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs556057132	chr5:94957362-94957363	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs576048270	chr5:94957372-94957373	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs544816089	chr5:94957430-94957431	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs149768143	chr5:94957488-94957489	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs578135037	chr5:94957490-94957491	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs542414619	chr5:94957491-94957492	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs540339507	chr5:94957498-94957499	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs560637017	chr5:94957551-94957552	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs190571736	chr5:94957626-94957627	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs561920092	chr5:94957640-94957641	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs2287695	chr5:94957676-94957677	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

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
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94954800-94958600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:94955000-94956400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr5:94955000-94957600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:94955000-94957600	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr5:94955200-94956400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
6	chr5:94955200-94957000	Flanking Active TSS	HUVEC	blood vessel
7	chr5:94955200-94957200	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr5:94955200-94957200	Flanking Active TSS	NH-A	brain
9	chr5:94955200-94957400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr5:94955200-94957600	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr5:94955200-94957600	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr5:94955200-94957800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr5:94955400-94956400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:94955400-94956400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
15	chr5:94955400-94956400	Flanking Active TSS	Liver	Liver
16	chr5:94955400-94956400	Flanking Active TSS	Placenta	Placenta
17	chr5:94955400-94956400	Active TSS	Right Atrium	heart
18	chr5:94955400-94957000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr5:94955400-94957200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:94955400-94957400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:94955400-94957400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:94955400-94957400	Active TSS	Brain Cingulate Gyrus	brain
23	chr5:94955400-94957400	Active TSS	Brain Substantia Nigra	brain
24	chr5:94955400-94957400	Active TSS	Psoas Muscle	Psoas
25	chr5:94955400-94957600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr5:94955400-94957600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr5:94955400-94957600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr5:94955400-94957600	Active TSS	Brain Angular Gyrus	brain
29	chr5:94955400-94957600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:94955400-94957800	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr5:94955400-94958200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr5:94955600-94956400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
33	chr5:94955600-94956400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:94955600-94956400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:94955600-94956400	Flanking Active TSS	GM12878-XiMat	blood
36	chr5:94955600-94956800	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr5:94955600-94957000	Active TSS	HSMMtube	muscle
38	chr5:94955600-94957200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:94955600-94957200	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr5:94955600-94957200	Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr5:94955600-94957200	Bivalent/Poised TSS	Fetal Brain Female	brain
42	chr5:94955600-94957200	Bivalent/Poised TSS	A549	lung
43	chr5:94955600-94957400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
44	chr5:94955600-94957400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:94955600-94957400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:94955600-94957400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
47	chr5:94955600-94957400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:94955600-94957400	Active TSS	Aorta	Aorta
49	chr5:94955600-94957400	Flanking Active TSS	Colonic Mucosa	Colon
50	chr5:94955600-94957400	Flanking Active TSS	Lung	lung

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