Variant report

Variant	esv3465844
Chromosome Location	chr4:101958129-101962627
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	chr4:101947401..101949556-chr4:101960965..101963315,2	MCF-7	breast:

Extended variants
information (count: 160 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:160 , 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	rs143198500	chr4:101958133-101958134	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532036774	chr4:101958144-101958145	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139888927	chr4:101958161-101958162	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550664501	chr4:101958166-101958167	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562474016	chr4:101958211-101958212	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138793404	chr4:101958217-101958218	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547918588	chr4:101958224-101958225	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111437834	chr4:101958267-101958268	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527589708	chr4:101958282-101958283	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538908916	chr4:101958369-101958370	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552362335	chr4:101958398-101958399	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28393983	chr4:101958407-101958408	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs193149087	chr4:101958451-101958452	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557403444	chr4:101958478-101958479	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7666907	chr4:101958497-101958498	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116790211	chr4:101958531-101958532	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142827395	chr4:101958571-101958572	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185646808	chr4:101958572-101958573	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573153996	chr4:101958611-101958612	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs114575956	chr4:101958615-101958616	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs2037773	chr4:101958617-101958618	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs577002725	chr4:101958630-101958631	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs188610142	chr4:101958636-101958637	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs192762193	chr4:101958667-101958668	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs201126136	chr4:101958739-101958740	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs6824097	chr4:101958740-101958741	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs142106400	chr4:101958751-101958752	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs568603762	chr4:101958822-101958823	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113412035	chr4:101958950-101958951	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541765534	chr4:101958971-101958972	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372925306	chr4:101958997-101958998	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527549927	chr4:101959020-101959021	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs552523014	chr4:101959046-101959047	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs570785890	chr4:101959047-101959048	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs543178076	chr4:101959068-101959069	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs138058477	chr4:101959069-101959070	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs549747931	chr4:101959096-101959097	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs141622784	chr4:101959129-101959130	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs372454739	chr4:101959143-101959144	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs997926	chr4:101959144-101959145	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs3789745	chr4:101959193-101959194	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs34912948	chr4:101959212-101959213	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs566541195	chr4:101959225-101959226	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs534193300	chr4:101959268-101959269	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs558810472	chr4:101959277-101959278	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs150498202	chr4:101959282-101959283	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs183510608	chr4:101959341-101959342	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs112430656	chr4:101959504-101959505	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574436140	chr4:101959513-101959514	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373730564	chr4:101959522-101959523	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD

Chromatin state (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:101936200-101967800	Weak transcription	Fetal Kidney	kidney
2	chr4:101940800-101958200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:101941000-101960200	Weak transcription	Colonic Mucosa	Colon
4	chr4:101941200-101971000	Weak transcription	Psoas Muscle	Psoas
5	chr4:101941200-102000200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:101941200-102035600	Weak transcription	Fetal Intestine Small	intestine
7	chr4:101941600-101959400	Weak transcription	HepG2	liver
8	chr4:101941800-101959200	Weak transcription	Left Ventricle	heart
9	chr4:101942000-101970200	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:101942400-101960200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr4:101942400-101971400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:101942600-101966800	Weak transcription	Gastric	stomach
13	chr4:101942600-102003200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:101942600-102024400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:101942800-101959600	Weak transcription	Lung	lung
16	chr4:101943000-101959000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr4:101943000-101961800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:101943200-101959200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr4:101943200-101967400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:101943200-101967400	Weak transcription	Spleen	Spleen
21	chr4:101943400-101959000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr4:101943400-101964200	Weak transcription	Colon Smooth Muscle	Colon
23	chr4:101943400-101967200	Weak transcription	Fetal Brain Male	brain
24	chr4:101943600-101958800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr4:101943800-101958200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr4:101943800-101958800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:101943800-101960800	Weak transcription	Esophagus	oesophagus
28	chr4:101943800-102023400	Weak transcription	Fetal Lung	lung
29	chr4:101944000-101958800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:101944000-101959000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr4:101944000-101962000	Weak transcription	A549	lung
32	chr4:101944000-101964600	Weak transcription	NHLF	lung
33	chr4:101944400-101959200	Weak transcription	NHDF-Ad	bronchial
34	chr4:101944400-101968400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:101944400-101981200	Weak transcription	Pancreas	Pancrea
36	chr4:101944400-102000200	Weak transcription	Fetal Stomach	stomach
37	chr4:101945400-101961000	Weak transcription	Fetal Brain Female	brain
38	chr4:101945400-101961600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr4:101945600-101970800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr4:101945800-101960400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:101945800-101970800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr4:101947800-101958200	Weak transcription	HMEC	breast
43	chr4:101947800-101959200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr4:101947800-102012600	Weak transcription	Fetal Muscle Leg	muscle
45	chr4:101948000-101958600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr4:101948200-101960000	Weak transcription	Osteobl	bone
47	chr4:101949400-101959200	Weak transcription	Fetal Thymus	thymus
48	chr4:101950200-101967000	Weak transcription	Stomach Mucosa	stomach
49	chr4:101950200-101971400	Weak transcription	Brain Angular Gyrus	brain
50	chr4:101950400-101964000	Weak transcription	HSMMtube	muscle

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