Variant report

Variant	esv3464807
Chromosome Location	chr4:15643251-15646118
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	chr4:15642778..15644328-chr4:15756806..15758696,2	MCF-7	breast:
2	chr4:15643577..15645460-chr4:15655132..15657368,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118564	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556413070	chr4:15643300-15643301	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575138204	chr4:15643313-15643314	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575963702	chr4:15643355-15643356	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370417986	chr4:15643356-15643357	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10049611	chr4:15643408-15643409	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374347574	chr4:15643412-15643413	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185162794	chr4:15643425-15643426	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs71649919	chr4:15643427-15643428	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369284064	chr4:15643467-15643468	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190405434	chr4:15643470-15643471	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192662673	chr4:15643524-15643525	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528557403	chr4:15643557-15643558	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367566118	chr4:15643561-15643562	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548396490	chr4:15643570-15643571	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573813489	chr4:15643591-15643592	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs185005764	chr4:15643592-15643593	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564906632	chr4:15643614-15643615	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs115690300	chr4:15643643-15643644	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs75937135	chr4:15643661-15643662	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs570840012	chr4:15643678-15643679	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs541081664	chr4:15643691-15643692	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs549023930	chr4:15643697-15643698	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs539633086	chr4:15643733-15643734	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547139875	chr4:15643776-15643777	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs566976039	chr4:15643840-15643841	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs34820897	chr4:15643867-15643868	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs535490450	chr4:15643901-15643902	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs561273663	chr4:15643928-15643929	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs188184754	chr4:15643959-15643960	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs375633092	chr4:15643984-15643985	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs530309126	chr4:15644066-15644067	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs537867604	chr4:15644095-15644096	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs111306548	chr4:15644105-15644106	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs550142929	chr4:15644138-15644139	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs570307280	chr4:15644150-15644151	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs532827472	chr4:15644175-15644176	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs180938407	chr4:15644187-15644188	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs186296515	chr4:15644210-15644211	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs189468833	chr4:15644253-15644254	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553137037	chr4:15644274-15644275	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs373532556	chr4:15644329-15644330	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs371976592	chr4:15644331-15644332	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs573764536	chr4:15644381-15644382	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs542300415	chr4:15644400-15644401	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs377391896	chr4:15644419-15644420	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs113862485	chr4:15644459-15644460	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs557718428	chr4:15644470-15644471	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs562089760	chr4:15644490-15644491	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs530794841	chr4:15644494-15644495	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs145237230	chr4:15644563-15644564	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	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
Breast cancer	22522925	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15568400-15655600	Weak transcription	Gastric	stomach
2	chr4:15600800-15653000	Weak transcription	Colonic Mucosa	Colon
3	chr4:15601000-15651600	Weak transcription	Small Intestine	intestine
4	chr4:15602600-15655600	Weak transcription	Pancreas	Pancrea
5	chr4:15605800-15650200	Weak transcription	Stomach Mucosa	stomach
6	chr4:15618600-15651000	Weak transcription	Spleen	Spleen
7	chr4:15622200-15655400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:15622600-15645800	Weak transcription	Aorta	Aorta
9	chr4:15625200-15644800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr4:15625800-15643400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:15625800-15643600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:15625800-15643600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:15625800-15643600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:15626400-15646000	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr4:15627400-15645800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:15627400-15650000	Weak transcription	Fetal Heart	heart
17	chr4:15627400-15651200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:15627400-15652400	Weak transcription	Fetal Brain Male	brain
19	chr4:15627600-15645600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr4:15627600-15646800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:15627600-15650200	Weak transcription	Right Ventricle	heart
22	chr4:15628000-15655600	Weak transcription	Lung	lung
23	chr4:15628200-15645800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:15629600-15650400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr4:15631200-15644400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:15633400-15643800	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr4:15633400-15643800	Strong transcription	Fetal Intestine Large	intestine
28	chr4:15633600-15643400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr4:15633600-15643600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr4:15633600-15646400	Strong transcription	Fetal Thymus	thymus
31	chr4:15634000-15643600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:15634000-15643800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:15634200-15644400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:15634600-15643400	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr4:15634600-15643600	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr4:15634600-15646600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr4:15634800-15643600	Strong transcription	Fetal Muscle Leg	muscle
38	chr4:15635000-15644000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:15635000-15644400	Strong transcription	Osteobl	bone
40	chr4:15635000-15647000	Strong transcription	HSMM	muscle
41	chr4:15635200-15643800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr4:15635400-15643800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:15635600-15644400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr4:15635600-15645000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr4:15635600-15646400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:15635600-15655600	Weak transcription	Esophagus	oesophagus
47	chr4:15635800-15643800	Strong transcription	Dnd41	blood
48	chr4:15635800-15654800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:15636800-15644400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:15636800-15651400	Weak transcription	Hela-S3	cervix

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