Variant report

Variant	nsv968016
Chromosome Location	chr4:153090362-153094972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:153087991..153090711-chr4:153090744..153093501,2	MCF-7	breast:
2	chr4:153092306..153094801-chr4:153095527..153097409,2	K562	blood:
3	chr4:153087991..153090711-chr4:153090744..153093501,2	MCF-7	breast:

Extended variants
information (count: 154 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:154 , 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	rs187168619	chr4:153090376-153090377	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs6849420	chr4:153090442-153090443	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs535874519	chr4:153090463-153090464	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs554846790	chr4:153090466-153090467	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs72953091	chr4:153090520-153090521	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs146444197	chr4:153090584-153090585	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs565058845	chr4:153090587-153090588	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs17361342	chr4:153090603-153090604	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs576653120	chr4:153090625-153090626	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72736218	chr4:153090695-153090696	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs11727188	chr4:153090716-153090717	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs140928022	chr4:153090732-153090733	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541897518	chr4:153090737-153090738	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192459056	chr4:153090771-153090772	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532194647	chr4:153090834-153090835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79580320	chr4:153090867-153090868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183356830	chr4:153090887-153090888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564636383	chr4:153090932-153090933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531820930	chr4:153090938-153090939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187601700	chr4:153091026-153091027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562492233	chr4:153091050-153091051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529684214	chr4:153091054-153091055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371054863	chr4:153091177-153091178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534553777	chr4:153091191-153091192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547816467	chr4:153091203-153091204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200162016	chr4:153091238-153091239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566408517	chr4:153091282-153091283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375152414	chr4:153091305-153091306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558261463	chr4:153091309-153091310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2897464	chr4:153091323-153091324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs143327075	chr4:153091341-153091342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146728282	chr4:153091343-153091344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537650466	chr4:153091392-153091393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190712939	chr4:153091396-153091397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2897463	chr4:153091443-153091444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370080139	chr4:153091446-153091447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535816681	chr4:153091477-153091478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554178763	chr4:153091670-153091671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75939308	chr4:153091683-153091684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150389294	chr4:153091684-153091685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182560210	chr4:153091685-153091686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138133349	chr4:153091761-153091762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187222050	chr4:153091814-153091815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374351654	chr4:153091827-153091828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373386974	chr4:153091831-153091832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79901760	chr4:153091863-153091864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547905959	chr4:153091885-153091886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149147910	chr4:153091898-153091899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527301045	chr4:153091944-153091945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192155470	chr4:153091952-153091953	Weak transcription	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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:153078000-153090600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:153086000-153090400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:153086000-153094400	Weak transcription	Aorta	Aorta
4	chr4:153086600-153090600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:153086800-153090400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:153087200-153090600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:153090000-153090800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:153090200-153090600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:153090200-153091000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:153090200-153091000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr4:153090200-153091000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:153090200-153091000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:153090200-153091000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:153090200-153091200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr4:153090400-153090600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:153090400-153091000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:153090600-153091000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr4:153090600-153091000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:153090600-153091200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr4:153092200-153092600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:153094800-153095600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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