Variant report

Variant	esv3410844
Chromosome Location	chr5:74738007-74741254
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	chr5:74735651..74738520-chr5:74798535..74800607,2	K562	blood:
2	chr5:74735308..74738290-chr5:74961776..74964047,2	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570694498	chr5:74738019-74738020	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539622401	chr5:74738021-74738022	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556365581	chr5:74738079-74738080	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569866245	chr5:74738093-74738094	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535699164	chr5:74738143-74738144	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544205066	chr5:74738159-74738160	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553439981	chr5:74738344-74738345	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561217195	chr5:74738361-74738362	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76466381	chr5:74738370-74738371	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184345223	chr5:74738409-74738410	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557810839	chr5:74738453-74738454	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574777509	chr5:74738469-74738470	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540627087	chr5:74738507-74738508	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577690192	chr5:74738519-74738520	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560478269	chr5:74738551-74738552	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189047089	chr5:74738555-74738556	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532661603	chr5:74738592-74738593	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544414001	chr5:74738613-74738614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181633108	chr5:74738621-74738622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145510436	chr5:74738659-74738660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554980827	chr5:74738664-74738665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576350008	chr5:74738673-74738674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552668288	chr5:74738681-74738682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148834706	chr5:74738682-74738683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374324319	chr5:74738692-74738693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184739421	chr5:74738759-74738760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533023739	chr5:74738800-74738801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562962386	chr5:74738814-74738815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562520169	chr5:74738869-74738870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375919101	chr5:74738945-74738946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189542457	chr5:74739057-74739058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs180728677	chr5:74739151-74739152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4432861	chr5:74739156-74739157	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs568726800	chr5:74739189-74739190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565970980	chr5:74739266-74739267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534721641	chr5:74739281-74739282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56361267	chr5:74739302-74739303	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577727310	chr5:74739328-74739329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543466793	chr5:74739391-74739392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186012186	chr5:74739422-74739423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190889336	chr5:74739442-74739443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542986075	chr5:74739537-74739538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146926838	chr5:74739552-74739553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528767253	chr5:74739557-74739558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181337673	chr5:74739591-74739592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546192919	chr5:74739687-74739688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566092534	chr5:74739796-74739797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138219764	chr5:74739864-74739865	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs143750006	chr5:74739900-74739901	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs549842681	chr5:74739906-74739907	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	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
Hepatocellular carcinoma	16750200	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	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
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	22355333	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74674400-74761400	Weak transcription	Esophagus	oesophagus
2	chr5:74706200-74756400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:74708400-74746000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:74709600-74760200	Weak transcription	Gastric	stomach
5	chr5:74713200-74753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:74718800-74742200	Weak transcription	Colon Smooth Muscle	Colon
7	chr5:74721400-74742600	Weak transcription	Thymus	Thymus
8	chr5:74721600-74741400	Weak transcription	Fetal Lung	lung
9	chr5:74721600-74742600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:74721800-74741800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:74721800-74742600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:74721800-74749600	Weak transcription	Adipose Nuclei	Adipose
13	chr5:74722200-74749800	Weak transcription	Liver	Liver
14	chr5:74722600-74742200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr5:74723000-74741400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr5:74725600-74741400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:74729800-74741400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:74730400-74757400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:74731200-74738400	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr5:74731800-74741400	Weak transcription	Aorta	Aorta
21	chr5:74731800-74741600	Weak transcription	HSMMtube	muscle
22	chr5:74731800-74742400	Weak transcription	Ovary	ovary
23	chr5:74731800-74757400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:74732000-74742600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:74732000-74742600	Weak transcription	Lung	lung
26	chr5:74732000-74756800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr5:74732000-74760200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:74732000-74787400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:74735400-74742200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:74735600-74741400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr5:74736000-74741000	Weak transcription	Primary B cells from cord blood	blood
32	chr5:74736600-74738600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:74737200-74738400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
34	chr5:74737200-74738400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:74737400-74738400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:74737400-74738400	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr5:74737400-74738600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
38	chr5:74737400-74738600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr5:74737600-74739800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:74737600-74749800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr5:74738000-74738400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
42	chr5:74738400-74739800	Weak transcription	Fetal Intestine Small	intestine
43	chr5:74738400-74741200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:74738400-74741200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:74738400-74741400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr5:74738400-74742600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:74738600-74740800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr5:74738600-74741800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr5:74738600-74756600	Weak transcription	Fetal Kidney	kidney
50	chr5:74739000-74741000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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