Variant report

Variant	nsv1023543
Chromosome Location	chr4:171895573-171939724
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:171912038..171912871-chr4:172107600..172108526,5	MCF-7	breast:
2	chr4:171928561..171931104-chr4:171934815..171936372,2	K562	blood:
3	chr4:171929252..171929804-chr4:172107612..172108208,2	MCF-7	breast:
4	chr13:21346332..21349152-chr4:171938151..171940290,2	MCF-7	breast:
5	chr4:171911858..171912761-chr4:172706205..172707181,4	MCF-7	breast:
6	chr4:171928561..171931104-chr4:171934815..171936372,2	K562	blood:

Variant related genes	Relation type
ENSG00000150456	chromatin interactions

Extended variants
information (count: 788 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:788 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541534231	chr4:171895582-171895583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112020445	chr4:171895670-171895671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575031980	chr4:171895759-171895760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138235454	chr4:171895799-171895800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112543878	chr4:171895860-171895861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115935987	chr4:171895865-171895866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533036179	chr4:171895930-171895931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371716556	chr4:171896030-171896031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374776249	chr4:171896074-171896075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540522677	chr4:171896078-171896079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560258648	chr4:171896082-171896083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142713285	chr4:171896090-171896091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549143023	chr4:171896104-171896105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181037247	chr4:171896105-171896106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114059222	chr4:171896145-171896146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551996772	chr4:171896166-171896167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570320404	chr4:171896256-171896257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571880195	chr4:171896297-171896298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200657272	chr4:171896344-171896345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369440671	chr4:171896349-171896350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373388958	chr4:171896354-171896355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148664244	chr4:171896355-171896356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370891820	chr4:171896356-171896357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28862673	chr4:171896357-171896358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376589372	chr4:171896359-171896360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58776959	chr4:171896362-171896363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72704648	chr4:171896363-171896364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142525968	chr4:171896364-171896365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201340767	chr4:171896366-171896367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79245827	chr4:171896367-171896368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199920355	chr4:171896368-171896369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201222857	chr4:171896372-171896373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202119033	chr4:171896431-171896432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200294255	chr4:171896463-171896464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200877477	chr4:171896496-171896497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554472605	chr4:171896505-171896506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566312787	chr4:171896507-171896508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535417314	chr4:171896508-171896509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187120385	chr4:171896547-171896548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574981985	chr4:171896556-171896557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537556480	chr4:171896572-171896573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557481845	chr4:171896642-171896643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192507284	chr4:171896648-171896649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540120783	chr4:171896653-171896654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs202228831	chr4:171896737-171896738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560379519	chr4:171896761-171896762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573880478	chr4:171896810-171896811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138119061	chr4:171896858-171896859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529077724	chr4:171896867-171896868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540761643	chr4:171896893-171896894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Acute lymphoblastic leukemia	20067559	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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	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
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
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Developmental delay	22127048	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:171893200-171901000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:171899800-171901000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr4:171900000-171900400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:171901000-171901200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:171909000-171909200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:171909000-171909600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:171909200-171912400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:171910600-171910800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:171912400-171912800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:171912400-171913000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr4:171912400-171913200	Enhancers	Primary hematopoietic stem cells	blood
12	chr4:171912400-171913400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:171912400-171913400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:171912600-171912800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:171912600-171912800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:171912600-171913000	Enhancers	Gastric	stomach
17	chr4:171928800-171929000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:171928800-171929200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:171928800-171930200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr4:171929000-171929200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:171929000-171929200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:171929000-171929400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr4:171929000-171929400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr4:171929000-171929400	Enhancers	H9 Cell Line	embryonic stem cell
25	chr4:171929000-171929400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:171929000-171929800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:171929000-171930000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:171929000-171930400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr4:171929000-171944400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:171929400-171932000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr4:171929400-171932000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr4:171932000-171932200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
33	chr4:171932000-171932600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
34	chr4:171935800-171937000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:171936200-171936800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:171938800-171939000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:171938800-171939000	Enhancers	H9 Cell Line	embryonic stem cell
38	chr4:171938800-171939200	Enhancers	Brain Substantia Nigra	brain
39	chr4:171939000-171939200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr4:171939000-171944000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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