Variant report

Variant	esv2753353
Chromosome Location	chr5:115696118-115699265
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:115692236..115694986-chr5:115697167..115699493,2	MCF-7	breast:
2	chr5:115693595..115697814-chr5:115698835..115703078,5	K562	blood:
3	chr5:115693595..115697814-chr5:115698835..115703078,5	K562	blood:

Extended variants
information (count: 149 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1363153	chr5:115696118-115696119	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543201920	chr5:115696149-115696150	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs116256643	chr5:115696158-115696159	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs192245980	chr5:115696192-115696193	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs184123621	chr5:115696205-115696206	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371592814	chr5:115696303-115696304	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs55686297	chr5:115696304-115696305	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187016508	chr5:115696325-115696326	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560559105	chr5:115696337-115696338	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113813552	chr5:115696420-115696421	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs528381184	chr5:115696448-115696449	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs546488548	chr5:115696461-115696462	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs559970018	chr5:115696466-115696467	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs57209700	chr5:115696473-115696474	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs192118423	chr5:115696490-115696491	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs79712306	chr5:115696540-115696541	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs147631415	chr5:115696661-115696662	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs532700340	chr5:115696689-115696690	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs552581660	chr5:115696696-115696697	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs61347983	chr5:115696733-115696734	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs534133454	chr5:115696759-115696760	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs529399391	chr5:115696790-115696791	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs368230418	chr5:115696803-115696804	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184206457	chr5:115696851-115696852	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78035495	chr5:115696866-115696867	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
26	rs367935193	chr5:115696871-115696872	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72808976	chr5:115696911-115696912	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs190456670	chr5:115696926-115696927	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569834702	chr5:115696937-115696938	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544287945	chr5:115696962-115696963	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34343969	chr5:115696966-115696967	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563974799	chr5:115696967-115696968	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577223330	chr5:115696993-115696994	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539803115	chr5:115696996-115696997	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538710769	chr5:115696997-115696998	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371668042	chr5:115697020-115697021	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1529443	chr5:115697036-115697037	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs542490806	chr5:115697047-115697048	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562694111	chr5:115697094-115697095	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182278577	chr5:115697095-115697096	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368928575	chr5:115697122-115697123	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551854959	chr5:115697147-115697148	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113507078	chr5:115697165-115697166	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571607334	chr5:115697173-115697174	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73781050	chr5:115697179-115697180	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs547781708	chr5:115697204-115697205	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567985631	chr5:115697218-115697219	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536932376	chr5:115697229-115697230	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34416395	chr5:115697262-115697263	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556523052	chr5:115697267-115697268	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription	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
Sezary syndrome	18413736	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115684400-115705800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr5:115684800-115697800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr5:115685000-115721400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr5:115685200-115696800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:115686400-115697000	Weak transcription	Fetal Lung	lung
6	chr5:115686600-115697400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:115687200-115706400	Weak transcription	Liver	Liver
8	chr5:115687800-115696800	Weak transcription	Pancreas	Pancrea
9	chr5:115687800-115697000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:115688000-115696800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:115688600-115696600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:115690000-115697600	Weak transcription	Primary T cells from cord blood	blood
13	chr5:115693200-115696800	Weak transcription	Fetal Intestine Small	intestine
14	chr5:115693400-115696600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:115693400-115697000	Enhancers	Fetal Muscle Leg	muscle
16	chr5:115693600-115696800	Enhancers	Right Ventricle	heart
17	chr5:115693800-115696400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:115693800-115696800	Enhancers	Primary hematopoietic stem cells	blood
19	chr5:115694000-115696400	Enhancers	Primary B cells from cord blood	blood
20	chr5:115694000-115696600	Enhancers	Brain Angular Gyrus	brain
21	chr5:115694000-115696800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr5:115694200-115696400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:115694200-115696400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr5:115694200-115696800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr5:115694400-115696200	Enhancers	Fetal Thymus	thymus
26	chr5:115694400-115696600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr5:115694400-115707800	Weak transcription	Spleen	Spleen
28	chr5:115694800-115696800	Enhancers	Brain Hippocampus Middle	brain
29	chr5:115694800-115696800	Enhancers	Fetal Stomach	stomach
30	chr5:115695000-115696200	Enhancers	Brain Cingulate Gyrus	brain
31	chr5:115695000-115696200	Enhancers	Fetal Brain Female	brain
32	chr5:115695000-115696600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr5:115695000-115696800	Enhancers	Left Ventricle	heart
34	chr5:115695000-115697000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr5:115695000-115697000	Enhancers	GM12878-XiMat	blood
36	chr5:115695000-115697200	Enhancers	Psoas Muscle	Psoas
37	chr5:115695200-115696200	Enhancers	Lung	lung
38	chr5:115695200-115696800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr5:115695200-115696800	Enhancers	Fetal Muscle Trunk	muscle
40	chr5:115695200-115697000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr5:115695200-115697800	Enhancers	Fetal Brain Male	brain
42	chr5:115695200-115698000	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr5:115695200-115700000	Weak transcription	K562	blood
44	chr5:115695400-115696600	Enhancers	Rectal Smooth Muscle	rectum
45	chr5:115695400-115696800	Enhancers	Brain Germinal Matrix	brain
46	chr5:115695400-115697000	Weak transcription	Placenta	Placenta
47	chr5:115695600-115696200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr5:115695600-115697000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:115695600-115697000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:115695600-115697600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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