Variant report

Variant	esv2762538
Chromosome Location	chr5:115436508-115455707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:115445954..115448911-chr5:115452951..115455275,2	K562	blood:
2	chr5:115419680..115422174-chr5:115452572..115455057,2	MCF-7	breast:
3	chr5:115445954..115448911-chr5:115452951..115455275,2	K562	blood:
4	chr5:115431884..115434416-chr5:115451435..115454225,2	K562	blood:

Variant related genes	Relation type
ENSG00000271918	chromatin interactions
ENSG00000145781	chromatin interactions

Extended variants
information (count: 1015 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1015 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34783552	chr5:115436519-115436520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150149968	chr5:115436534-115436535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138200945	chr5:115436548-115436549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532970185	chr5:115436655-115436656	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs540181367	chr5:115436742-115436743	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs540566126	chr5:115436756-115436757	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs1588268	chr5:115436788-115436789	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs2063250	chr5:115436807-115436808	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs548992277	chr5:115436845-115436846	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs184489200	chr5:115436893-115436894	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs142476444	chr5:115436906-115436907	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs551467774	chr5:115436908-115436909	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs374837355	chr5:115436954-115436955	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs571359823	chr5:115436977-115436978	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs77889113	chr5:115437035-115437036	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs189381211	chr5:115437052-115437053	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs567534093	chr5:115437068-115437069	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs536978641	chr5:115437079-115437080	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs370723281	chr5:115437089-115437090	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs556553534	chr5:115437090-115437091	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs28839012	chr5:115437110-115437111	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs534005011	chr5:115437114-115437115	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs557892090	chr5:115437146-115437147	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs577859754	chr5:115437147-115437148	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs181434720	chr5:115437199-115437200	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs374468704	chr5:115437241-115437242	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs560128752	chr5:115437260-115437261	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs562263280	chr5:115437280-115437281	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs573535820	chr5:115437284-115437285	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs185675848	chr5:115437285-115437286	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs562401096	chr5:115437295-115437296	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs200162767	chr5:115437326-115437327	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs531406051	chr5:115437339-115437340	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs551368549	chr5:115437357-115437358	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs564725616	chr5:115437364-115437365	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs527817219	chr5:115437365-115437366	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs190681243	chr5:115437374-115437375	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs181439628	chr5:115437400-115437401	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs367634835	chr5:115437401-115437402	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs138984638	chr5:115437406-115437407	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs2416425	chr5:115437424-115437425	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs186499269	chr5:115437453-115437454	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs2416426	chr5:115437470-115437471	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs572661398	chr5:115437471-115437472	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs533917203	chr5:115437485-115437486	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs553559683	chr5:115437504-115437505	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs527611196	chr5:115437533-115437534	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs573590673	chr5:115437558-115437559	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs548994289	chr5:115437590-115437591	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs542210888	chr5:115437622-115437623	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115421400-115444200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:115421400-115446400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:115421400-115446400	Weak transcription	Esophagus	oesophagus
4	chr5:115421600-115436600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:115421800-115448000	Weak transcription	Aorta	Aorta
6	chr5:115422400-115437400	Weak transcription	Spleen	Spleen
7	chr5:115422800-115444200	Weak transcription	Pancreas	Pancrea
8	chr5:115423800-115437000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:115424000-115436600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:115424000-115437000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:115424200-115437000	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr5:115424400-115438800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr5:115425800-115438400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr5:115426200-115436800	Weak transcription	NHEK	skin
15	chr5:115429400-115443600	Weak transcription	Fetal Stomach	stomach
16	chr5:115429400-115443600	Weak transcription	Thymus	Thymus
17	chr5:115429400-115444000	Weak transcription	Gastric	stomach
18	chr5:115429400-115448200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:115429400-115448200	Weak transcription	Right Ventricle	heart
20	chr5:115429400-115449000	Weak transcription	Colonic Mucosa	Colon
21	chr5:115429600-115440200	Weak transcription	Brain Germinal Matrix	brain
22	chr5:115429600-115441400	Weak transcription	Fetal Kidney	kidney
23	chr5:115429600-115443800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:115429600-115448200	Weak transcription	Small Intestine	intestine
25	chr5:115429600-115448600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:115430200-115444000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr5:115430200-115448800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:115430400-115441800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:115430600-115444000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr5:115430600-115447400	Weak transcription	Brain Angular Gyrus	brain
31	chr5:115430800-115438000	Weak transcription	Fetal Brain Male	brain
32	chr5:115430800-115443200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr5:115430800-115444200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr5:115430800-115446600	Weak transcription	K562	blood
35	chr5:115430800-115447600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr5:115430800-115448000	Weak transcription	Psoas Muscle	Psoas
37	chr5:115430800-115448600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr5:115431000-115438000	Weak transcription	Fetal Brain Female	brain
39	chr5:115431000-115443000	Weak transcription	NHDF-Ad	bronchial
40	chr5:115431000-115443200	Weak transcription	HepG2	liver
41	chr5:115431000-115444600	Weak transcription	Brain Anterior Caudate	brain
42	chr5:115431000-115447000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr5:115431000-115448200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:115431200-115436600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:115431200-115437800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr5:115431200-115441800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr5:115431200-115445800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr5:115431200-115447600	Weak transcription	Brain Hippocampus Middle	brain
49	chr5:115431200-115447600	Weak transcription	Brain Substantia Nigra	brain
50	chr5:115431200-115448800	Weak transcription	Stomach Smooth Muscle	stomach

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