Variant report

Variant	esv3430950
Chromosome Location	chr4:48105345-48107693
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:47914195..47916266-chr4:48104648..48107155,2	MCF-7	breast:
2	chr4:48107035..48109587-chr4:48114590..48117554,2	K562	blood:
3	chr4:48105485..48107311-chr4:48109938..48112634,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000074966	chromatin interactions
ENSG00000163293	chromatin interactions
ENSG00000253050	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143886919	chr4:48105363-48105364	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs568862107	chr4:48105375-48105376	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs536293691	chr4:48105452-48105453	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs547956344	chr4:48105453-48105454	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs138519514	chr4:48105472-48105473	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs141866289	chr4:48105495-48105496	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs532302872	chr4:48105520-48105521	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs74639358	chr4:48105545-48105546	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs139305291	chr4:48105584-48105585	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs570988595	chr4:48105688-48105689	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs538935847	chr4:48105764-48105765	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs557276936	chr4:48105818-48105819	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs191940610	chr4:48105937-48105938	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs183682797	chr4:48105961-48105962	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs13123671	chr4:48105991-48105992	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs369990678	chr4:48106034-48106035	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs561140950	chr4:48106143-48106144	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs145416420	chr4:48106223-48106224	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs533119815	chr4:48106235-48106236	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs370942200	chr4:48106237-48106238	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs13111332	chr4:48106238-48106239	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs573260471	chr4:48106240-48106241	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs71611575	chr4:48106246-48106247	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs9994756	chr4:48106251-48106252	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs13105762	chr4:48106259-48106260	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs13111345	chr4:48106260-48106261	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs13111351	chr4:48106267-48106268	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs9994763	chr4:48106268-48106269	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs367750692	chr4:48106269-48106270	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs9994768	chr4:48106277-48106278	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs9992367	chr4:48106278-48106279	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs9994775	chr4:48106284-48106285	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs9992369	chr4:48106285-48106286	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs371700476	chr4:48106288-48106289	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs369331318	chr4:48106290-48106291	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs372033181	chr4:48106298-48106299	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs371596784	chr4:48106304-48106305	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs71611576	chr4:48106306-48106307	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs546498841	chr4:48106309-48106310	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs375268150	chr4:48106313-48106314	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs373444860	chr4:48106318-48106319	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs376317323	chr4:48106323-48106324	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs71611577	chr4:48106325-48106326	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs71611578	chr4:48106334-48106335	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs377440223	chr4:48106341-48106342	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs373860932	chr4:48106346-48106347	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs374794475	chr4:48106369-48106370	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs368999617	chr4:48106397-48106398	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs11723004	chr4:48106402-48106403	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs372415796	chr4:48106418-48106419	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48088600-48106000	Weak transcription	Fetal Thymus	thymus
2	chr4:48088600-48107800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:48097200-48105400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr4:48097800-48111800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:48098200-48105400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr4:48098600-48106000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:48103400-48114000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr4:48104000-48106200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr4:48104000-48106200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:48104200-48105600	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr4:48104400-48106000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr4:48104400-48106200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:48104400-48108000	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr4:48104400-48114000	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr4:48104600-48106000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr4:48105000-48106000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:48105000-48106200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr4:48105000-48106400	Strong transcription	Primary T cells from cord blood	blood
19	chr4:48105200-48106000	Strong transcription	Primary hematopoietic stem cells	blood
20	chr4:48105200-48106000	Enhancers	GM12878-XiMat	blood
21	chr4:48105200-48106200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
22	chr4:48105200-48106200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr4:48105400-48106000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:48105400-48106000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:48105400-48106200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
26	chr4:48105600-48106000	Enhancers	NHEK	skin
27	chr4:48105600-48106200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
28	chr4:48106000-48106200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
29	chr4:48106000-48107400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr4:48106000-48110000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:48106000-48110400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:48106000-48110800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:48106000-48110800	Weak transcription	NHEK	skin
34	chr4:48106000-48115600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:48106000-48129400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr4:48106200-48107200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr4:48106200-48107400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr4:48106200-48107400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr4:48106200-48109400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:48106200-48109400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr4:48106200-48110800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr4:48106200-48111200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr4:48106200-48114200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr4:48106400-48107200	Weak transcription	Primary T cells from cord blood	blood
45	chr4:48107200-48108200	Strong transcription	Primary T cells from cord blood	blood
46	chr4:48107200-48109600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
47	chr4:48107400-48107800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr4:48107400-48109400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr4:48107400-48114400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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