Variant report

Variant	esv16366
Chromosome Location	chr5:118692052-118702846
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:118695609..118697325-chr5:118702023..118704642,2	K562	blood:
2	chr5:118696081..118700363-chr5:118700434..118704100,5	MCF-7	breast:
3	chr5:118693986..118696448-chr5:118697023..118698533,2	K562	blood:
4	chr5:118694003..118697109-chr5:118701584..118704422,3	K562	blood:
5	chr5:118702494..118705018-chr5:118721326..118723316,2	K562	blood:
6	chr5:118694003..118697109-chr5:118701584..118704422,3	K562	blood:
7	chr5:118697330..118698986-chr5:118703713..118705854,2	K562	blood:
8	chr5:118696081..118700363-chr5:118700434..118704100,5	MCF-7	breast:
9	chr5:118690596..118694725-chr5:118695495..118698867,4	MCF-7	breast:
10	chr5:118693986..118696448-chr5:118697023..118698533,2	K562	blood:
11	chr5:118692399..118693980-chr5:118717576..118719923,2	MCF-7	breast:
12	chr5:118695609..118697325-chr5:118702023..118704642,2	K562	blood:
13	chr5:118694003..118695514-chr5:118702922..118705172,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000145779	chromatin interactions

Extended variants
information (count: 457 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:457 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573979498	chr5:118692061-118692062	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs184219769	chr5:118692081-118692082	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs188161165	chr5:118692138-118692139	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs531733290	chr5:118692147-118692148	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs180955616	chr5:118692170-118692171	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs565393196	chr5:118692195-118692196	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs1509141	chr5:118692218-118692219	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs148109730	chr5:118692234-118692235	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73239267	chr5:118692262-118692263	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114912858	chr5:118692301-118692302	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184833976	chr5:118692330-118692331	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550148449	chr5:118692339-118692340	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151204694	chr5:118692367-118692368	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115715614	chr5:118692370-118692371	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10477585	chr5:118692455-118692456	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs1509142	chr5:118692465-118692466	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs145187248	chr5:118692473-118692474	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs534440927	chr5:118692476-118692477	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs75129305	chr5:118692501-118692502	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs573943328	chr5:118692551-118692552	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs370533616	chr5:118692553-118692554	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs147021763	chr5:118692596-118692597	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs74771315	chr5:118692607-118692608	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs6877025	chr5:118692612-118692613	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576321567	chr5:118692637-118692638	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs545405130	chr5:118692670-118692671	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs61602975	chr5:118692695-118692696	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs115978160	chr5:118692702-118692703	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs190765881	chr5:118692718-118692719	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs541581818	chr5:118692795-118692796	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs373688558	chr5:118692797-118692798	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs574317059	chr5:118692867-118692868	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs542961671	chr5:118692887-118692888	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs563025851	chr5:118692892-118692893	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs529920571	chr5:118692893-118692894	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs181689597	chr5:118692920-118692921	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs147559156	chr5:118692927-118692928	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs531986076	chr5:118692938-118692939	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs552129320	chr5:118692939-118692940	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs565376563	chr5:118692959-118692960	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs545090014	chr5:118692999-118693000	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs187152225	chr5:118693023-118693024	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs567479585	chr5:118693039-118693040	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs6862941	chr5:118693056-118693057	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs556549517	chr5:118693068-118693069	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs576650116	chr5:118693086-118693087	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs545409998	chr5:118693089-118693090	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs145819863	chr5:118693113-118693114	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs73790828	chr5:118693174-118693175	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs191580360	chr5:118693190-118693191	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Prostate cancer	22341455	CNVD
Gastric cancer	17229543	CNVD

Chromatin state (count:776 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118671200-118695400	Weak transcription	A549	lung
2	chr5:118682600-118693600	Weak transcription	Dnd41	blood
3	chr5:118684000-118692800	Weak transcription	K562	blood
4	chr5:118690400-118692600	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr5:118690600-118692400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:118690600-118693200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr5:118690600-118693400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr5:118690600-118700400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:118690800-118692200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:118690800-118692200	Flanking Active TSS	Thymus	Thymus
11	chr5:118690800-118692400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr5:118690800-118692400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr5:118690800-118692400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:118690800-118693800	Active TSS	Rectal Smooth Muscle	rectum
15	chr5:118691000-118692200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:118691000-118692200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr5:118691000-118692200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:118691000-118692400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr5:118691000-118692400	Active TSS	Esophagus	oesophagus
20	chr5:118691000-118692600	Active TSS	H9 Cell Line	embryonic stem cell
21	chr5:118691000-118692600	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr5:118691000-118692600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:118691000-118692600	Flanking Active TSS	HUVEC	blood vessel
24	chr5:118691000-118692600	Active TSS	Osteobl	bone
25	chr5:118691000-118693000	Bivalent/Poised TSS	Psoas Muscle	Psoas
26	chr5:118691000-118693000	Active TSS	Right Ventricle	heart
27	chr5:118691000-118693400	Active TSS	HSMMtube	muscle
28	chr5:118691200-118692200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr5:118691200-118692200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
30	chr5:118691200-118692200	Active TSS	Small Intestine	intestine
31	chr5:118691200-118692400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:118691200-118692400	Active TSS	Brain Anterior Caudate	brain
33	chr5:118691200-118692400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:118691200-118692400	Active TSS	Fetal Stomach	stomach
35	chr5:118691200-118692600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:118691200-118692600	Active TSS	Brain Angular Gyrus	brain
37	chr5:118691200-118692600	Active TSS	Brain Substantia Nigra	brain
38	chr5:118691200-118692600	Active TSS	Fetal Kidney	kidney
39	chr5:118691200-118692600	Active TSS	Ovary	ovary
40	chr5:118691200-118692600	Active TSS	HSMM	muscle
41	chr5:118691200-118692800	Active TSS	Aorta	Aorta
42	chr5:118691200-118693000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr5:118691200-118693000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:118691200-118693000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr5:118691200-118693000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
46	chr5:118691200-118693000	Active TSS	Fetal Muscle Trunk	muscle
47	chr5:118691200-118693200	Active TSS	Left Ventricle	heart
48	chr5:118691200-118693200	Active TSS	Right Atrium	heart
49	chr5:118691200-118693400	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr5:118691200-118694200	Active TSS	Duodenum Smooth Muscle	Duodenum

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