Variant report

Variant	esv3447155
Chromosome Location	chr4:15843004-15849402
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	chr4:15826370..15828037-chr4:15841878..15844425,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369983252	chr4:15843015-15843016	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183964580	chr4:15843019-15843020	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568750707	chr4:15843026-15843027	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369950567	chr4:15843062-15843063	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576357883	chr4:15843063-15843064	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113263024	chr4:15843076-15843077	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373449892	chr4:15843082-15843083	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573673319	chr4:15843097-15843098	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187205203	chr4:15843103-15843104	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192124492	chr4:15843133-15843134	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531377913	chr4:15843170-15843171	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183015259	chr4:15843172-15843173	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186988637	chr4:15843173-15843174	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527571226	chr4:15843191-15843192	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547290540	chr4:15843206-15843207	Enhancers Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs375617313	chr4:15843207-15843208	Enhancers Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs541665502	chr4:15843216-15843217	Enhancers Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs561611508	chr4:15843229-15843230	Enhancers Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs529373351	chr4:15843241-15843242	Enhancers Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs549417696	chr4:15843243-15843244	Enhancers Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs569006448	chr4:15843272-15843273	Enhancers Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs537876813	chr4:15843273-15843274	Enhancers Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs557714571	chr4:15843337-15843338	Enhancers Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs369006285	chr4:15843342-15843343	Enhancers Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs534474928	chr4:15843348-15843349	Enhancers Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs554073113	chr4:15843352-15843353	Enhancers Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs530755509	chr4:15843375-15843376	Enhancers Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs574135005	chr4:15843401-15843402	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550559001	chr4:15843464-15843465	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564169784	chr4:15843475-15843476	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13111244	chr4:15843496-15843497	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375763026	chr4:15843539-15843540	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs59322494	chr4:15843653-15843654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113751722	chr4:15843703-15843704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561235628	chr4:15843856-15843857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181213794	chr4:15844550-15844551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545058346	chr4:15844883-15844884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200217559	chr4:15845948-15845949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201193618	chr4:15846857-15846858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202208969	chr4:15846987-15846988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199939183	chr4:15847125-15847126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564843072	chr4:15847490-15847491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111728636	chr4:15847525-15847526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201585801	chr4:15847559-15847560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370773420	chr4:15847610-15847611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527605957	chr4:15847639-15847640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371849032	chr4:15847793-15847794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376755656	chr4:15847820-15847821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71601502	chr4:15848551-15848552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs202163934	chr4:15848689-15848690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Non-small cell lung cancer	21829676	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15811400-15851200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:15811400-15852200	Weak transcription	Spleen	Spleen
3	chr4:15819200-15853400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:15820600-15844400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr4:15827600-15853400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:15830000-15843200	Strong transcription	Primary B cells from cord blood	blood
7	chr4:15833200-15843200	Strong transcription	Fetal Thymus	thymus
8	chr4:15834200-15843200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:15834600-15844400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:15834800-15851800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr4:15834800-15852800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr4:15835000-15857400	Weak transcription	Psoas Muscle	Psoas
13	chr4:15838200-15843200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:15839800-15843200	Strong transcription	Primary T cells from cord blood	blood
15	chr4:15840400-15855400	Weak transcription	Liver	Liver
16	chr4:15840800-15844800	Weak transcription	Right Ventricle	heart
17	chr4:15841400-15843400	ZNF genes & repeats	Dnd41	blood
18	chr4:15841600-15843200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr4:15841600-15843800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr4:15841800-15843200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr4:15842000-15843200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr4:15842200-15843200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
23	chr4:15842200-15843200	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr4:15842200-15843200	ZNF genes & repeats	Thymus	Thymus
25	chr4:15842600-15843200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr4:15842600-15843200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr4:15842600-15854400	Weak transcription	Left Ventricle	heart
28	chr4:15842600-15856600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr4:15842800-15843200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr4:15842800-15843200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:15842800-15843200	Flanking Active TSS	K562	blood
32	chr4:15842800-15843600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr4:15842800-15843600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr4:15843000-15843200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr4:15843000-15843600	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr4:15843000-15853600	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr4:15843200-15843600	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr4:15843200-15849400	Weak transcription	Primary T cells from cord blood	blood
39	chr4:15843200-15849400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:15843200-15849400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:15843200-15849400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr4:15843200-15849400	Weak transcription	Fetal Thymus	thymus
43	chr4:15843200-15849400	Weak transcription	Thymus	Thymus
44	chr4:15843200-15849600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr4:15843200-15849800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr4:15843200-15850200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr4:15843200-15852000	Weak transcription	Primary B cells from cord blood	blood
48	chr4:15843200-15852000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:15843200-15852000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr4:15843200-15853000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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