Variant report

Variant	esv3464781
Chromosome Location	chr4:15607348-15613955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:15606192..15608992-chr4:15609587..15612464,2	K562	blood:
2	chr4:15607476..15609952-chr4:15624488..15626808,2	K562	blood:
3	chr4:15606192..15608992-chr4:15609587..15612464,2	K562	blood:
4	chr4:15599091..15600880-chr4:15606438..15609058,2	K562	blood:
5	chr4:15596594..15598357-chr4:15612896..15614990,2	K562	blood:
6	chr4:15601993..15603874-chr4:15609109..15611454,2	K562	blood:

Variant related genes	Relation type
ENSG00000048342	chromatin interactions

Extended variants
information (count: 189 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143196332	chr4:15607351-15607352	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs376858405	chr4:15607371-15607372	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs563557479	chr4:15607426-15607427	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs532344802	chr4:15607502-15607503	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs552344657	chr4:15607536-15607537	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs529429048	chr4:15607541-15607542	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs550806241	chr4:15607544-15607545	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs111744547	chr4:15607562-15607563	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs557580840	chr4:15607568-15607569	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs547458517	chr4:15607599-15607600	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs565976414	chr4:15607612-15607613	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555848958	chr4:15607617-15607618	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567425161	chr4:15607649-15607650	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs59746966	chr4:15607675-15607676	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549948271	chr4:15607723-15607724	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374408797	chr4:15607808-15607809	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6823775	chr4:15607857-15607858	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs372220509	chr4:15607913-15607914	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538994128	chr4:15607923-15607924	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559094104	chr4:15607939-15607940	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544756559	chr4:15608007-15608008	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192673027	chr4:15608034-15608035	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184286270	chr4:15608043-15608044	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574591904	chr4:15608060-15608061	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375484563	chr4:15608174-15608175	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6824422	chr4:15608175-15608176	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs188191143	chr4:15608194-15608195	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372399749	chr4:15608206-15608207	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11543938	chr4:15608216-15608217	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578145462	chr4:15608321-15608322	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75487672	chr4:15608354-15608355	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540555647	chr4:15608521-15608522	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560453752	chr4:15608533-15608534	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10433813	chr4:15608551-15608552	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs180947415	chr4:15608567-15608568	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186323857	chr4:15608616-15608617	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547991341	chr4:15608624-15608625	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377178130	chr4:15608665-15608666	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561038030	chr4:15608669-15608670	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75836515	chr4:15608677-15608678	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561408379	chr4:15608706-15608707	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550129748	chr4:15608741-15608742	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533142916	chr4:15608771-15608772	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530538830	chr4:15608773-15608774	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539040654	chr4:15608787-15608788	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372364257	chr4:15608848-15608849	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552564352	chr4:15608872-15608873	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566377084	chr4:15608918-15608919	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535185852	chr4:15609061-15609062	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190417908	chr4:15609080-15609081	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Breast cancer	22522925	CNVD
Non-small cell lung cancer	21829676	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15537400-15621000	Weak transcription	Hela-S3	cervix
2	chr4:15550000-15617800	Weak transcription	Thymus	Thymus
3	chr4:15565400-15612600	Weak transcription	Brain Substantia Nigra	brain
4	chr4:15565400-15621400	Weak transcription	Esophagus	oesophagus
5	chr4:15565600-15611400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:15568400-15655600	Weak transcription	Gastric	stomach
7	chr4:15575200-15618000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:15587200-15612600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:15589800-15621400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:15590000-15615600	Weak transcription	Lung	lung
11	chr4:15590600-15626400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:15593800-15621200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr4:15594000-15609200	Weak transcription	Psoas Muscle	Psoas
14	chr4:15594600-15617800	Weak transcription	Right Ventricle	heart
15	chr4:15595400-15614000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:15595800-15611400	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr4:15596000-15608000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:15596000-15612800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr4:15596600-15616400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:15596800-15610000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr4:15597200-15620600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr4:15598400-15608800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:15598600-15607400	Strong transcription	NHDF-Ad	bronchial
24	chr4:15598600-15607800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:15598600-15611200	Strong transcription	HSMM	muscle
26	chr4:15599200-15607400	Strong transcription	Fetal Lung	lung
27	chr4:15599600-15610000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:15600600-15620800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr4:15600800-15653000	Weak transcription	Colonic Mucosa	Colon
30	chr4:15601000-15651600	Weak transcription	Small Intestine	intestine
31	chr4:15601600-15607600	Strong transcription	Osteobl	bone
32	chr4:15602000-15607600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:15602000-15607600	Strong transcription	Stomach Smooth Muscle	stomach
34	chr4:15602000-15626000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr4:15602200-15607600	Strong transcription	Liver	Liver
36	chr4:15602200-15609200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr4:15602200-15621200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr4:15602400-15612600	Weak transcription	Brain Angular Gyrus	brain
39	chr4:15602400-15615600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:15602600-15607400	Strong transcription	Fetal Kidney	kidney
41	chr4:15602600-15615800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:15602600-15655600	Weak transcription	Pancreas	Pancrea
43	chr4:15602800-15607400	Strong transcription	NH-A	brain
44	chr4:15603000-15624400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr4:15603200-15607400	Strong transcription	Fetal Thymus	thymus
46	chr4:15603200-15607600	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr4:15603200-15608000	Strong transcription	Dnd41	blood
48	chr4:15603600-15607400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr4:15603800-15626800	Weak transcription	NHLF	lung
50	chr4:15604000-15607400	Strong transcription	Primary T cells from cord blood	blood

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