Variant report

Variant	nsv548192
Chromosome Location	chr1:172175115-172247127
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:35)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:172217494..172219854-chr1:172223387..172225787,2	MCF-7	breast:
2	chr1:172244510..172246522-chr1:172290374..172293118,2	MCF-7	breast:
3	chr1:172182635..172185349-chr1:172186407..172188943,2	K562	blood:
4	chr1:172223330..172225504-chr1:172229542..172231885,2	MCF-7	breast:
5	chr1:172223818..172226357-chr1:172229730..172231454,2	MCF-7	breast:
6	chr1:172223489..172225833-chr1:172289738..172293302,4	MCF-7	breast:
7	chr1:172223432..172226037-chr1:172367106..172368941,2	MCF-7	breast:
8	chr1:172192046..172193599-chr1:172210543..172213398,2	K562	blood:
9	chr1:172235115..172238078-chr1:172246483..172247996,2	MCF-7	breast:
10	chr1:172238202..172240492-chr1:172241261..172243973,2	MCF-7	breast:
11	chr1:172184147..172186042-chr1:172327490..172329598,2	MCF-7	breast:
12	chr1:172238202..172240492-chr1:172241261..172243973,2	MCF-7	breast:
13	chr1:172223524..172225386-chr1:172246377..172249330,2	MCF-7	breast:
14	chr1:172244637..172247504-chr1:172250088..172253023,2	MCF-7	breast:
15	chr1:172228270..172230641-chr1:172232280..172235057,2	K562	blood:
16	chr1:172192915..172195699-chr1:172196372..172197884,2	K562	blood:
17	chr1:172224104..172227089-chr1:172327866..172331463,5	MCF-7	breast:
18	chr1:172223524..172225386-chr1:172246377..172249330,2	MCF-7	breast:
19	chr1:12333996..12334497-chr1:172225767..172226267,2	Hela-S3	cervix:
20	chr1:172230387..172232137-chr1:172254891..172256764,2	K562	blood:
21	chr1:172237804..172239793-chr1:172244110..172246344,2	K562	blood:
22	chr1:172223330..172225504-chr1:172229542..172231885,2	MCF-7	breast:
23	chr1:172192915..172195699-chr1:172196372..172197884,2	K562	blood:
24	chr1:172182635..172185349-chr1:172186407..172188943,2	K562	blood:
25	chr1:172217494..172219854-chr1:172223387..172225787,2	MCF-7	breast:
26	chr1:172237804..172239793-chr1:172244110..172246344,2	K562	blood:
27	chr1:172221315..172226024-chr1:172325981..172331432,5	MCF-7	breast:
28	chr1:172227773..172230310-chr1:172254726..172257439,2	MCF-7	breast:
29	chr1:172207485..172209594-chr1:172210521..172213485,2	MCF-7	breast:
30	chr1:172223818..172226357-chr1:172229730..172231454,2	MCF-7	breast:
31	chr1:172227596..172229761-chr6:26156100..26157990,2	MCF-7	breast:
32	chr1:172235115..172238078-chr1:172246483..172247996,2	MCF-7	breast:
33	chr1:172192046..172193599-chr1:172210543..172213398,2	K562	blood:
34	chr1:172207485..172209594-chr1:172210521..172213485,2	MCF-7	breast:
35	chr1:172228270..172230641-chr1:172232280..172235057,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIGC-5	chr1:172245028-172245122	NONHSAT007605

No data

Variant related genes	Relation type
ENSG00000168298	chromatin interactions

Extended variants
information (count: 2177 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:2177 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs508742	chr1:172175115-172175116	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185089949	chr1:172175116-172175117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564504950	chr1:172175130-172175131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189551086	chr1:172175147-172175148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182578313	chr1:172175153-172175154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147508124	chr1:172175259-172175260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529552824	chr1:172175279-172175280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550514204	chr1:172175288-172175289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562566348	chr1:172175291-172175292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533221582	chr1:172175295-172175296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551887499	chr1:172175338-172175339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543509851	chr1:172175387-172175388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139332332	chr1:172175481-172175482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549000507	chr1:172175550-172175551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567517164	chr1:172175555-172175556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs55935473	chr1:172175590-172175591	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs77824763	chr1:172175596-172175597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577745910	chr1:172175611-172175612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553389892	chr1:172175642-172175643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150330860	chr1:172175667-172175668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370724177	chr1:172175668-172175669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs61807804	chr1:172175697-172175698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115600924	chr1:172175711-172175712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150004347	chr1:172175745-172175746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs681398	chr1:172175811-172175812	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs540780168	chr1:172175893-172175894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186895114	chr1:172175894-172175895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111957269	chr1:172175918-172175919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs682215	chr1:172175932-172175933	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs562528368	chr1:172175986-172175987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536192125	chr1:172175989-172175990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533392970	chr1:172176011-172176012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116008186	chr1:172176077-172176078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560678088	chr1:172176098-172176099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs683128	chr1:172176125-172176126	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs191984466	chr1:172176147-172176148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549131059	chr1:172176178-172176179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148708832	chr1:172176181-172176182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531618924	chr1:172176195-172176196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs5778723	chr1:172176251-172176252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397731288	chr1:172176253-172176254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550126228	chr1:172176358-172176359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571258346	chr1:172176362-172176363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557904662	chr1:172176389-172176390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538668118	chr1:172176392-172176393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565067570	chr1:172176396-172176397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143503412	chr1:172176418-172176419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183351138	chr1:172176445-172176446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146741079	chr1:172176550-172176551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573931356	chr1:172176578-172176579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Autism	20531469	CNVD
Hereditary coagulopathy	21993689	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172169200-172176000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:172172800-172175200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:172172800-172175600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:172173800-172176400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:172174400-172175400	Weak transcription	GM12878-XiMat	blood
6	chr1:172175000-172176000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr1:172175200-172175800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:172175400-172175600	Enhancers	GM12878-XiMat	blood
9	chr1:172175400-172176000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:172175600-172176000	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:172175600-172176200	Enhancers	Primary B cells from cord blood	blood
12	chr1:172175600-172176400	Enhancers	Primary B cells from peripheral blood	blood
13	chr1:172175600-172176400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr1:172176000-172176600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:172176000-172177200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:172176200-172176600	Enhancers	HMEC	breast
17	chr1:172176200-172176600	Enhancers	NHEK	skin
18	chr1:172176400-172176600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:172176400-172177400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:172176600-172189800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:172177200-172178200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:172177400-172177600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr1:172178200-172181400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:172179600-172180800	Enhancers	Fetal Lung	lung
25	chr1:172179800-172180000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:172180000-172180200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:172180000-172180200	Active TSS	Fetal Muscle Leg	muscle
28	chr1:172180000-172181400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:172180200-172180600	Enhancers	Fetal Muscle Leg	muscle
30	chr1:172180200-172180800	Enhancers	Rectal Smooth Muscle	rectum
31	chr1:172180400-172181400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:172180600-172181400	Enhancers	Fetal Stomach	stomach
33	chr1:172180600-172182600	Active TSS	Fetal Muscle Leg	muscle
34	chr1:172181400-172181800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr1:172181400-172182000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:172186200-172186800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:172186400-172186600	Active TSS	Aorta	Aorta
38	chr1:172186400-172187000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:172188200-172189200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr1:172188200-172189400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:172188200-172190600	Enhancers	Primary hematopoietic stem cells	blood
42	chr1:172188200-172191000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:172188600-172189600	Enhancers	Fetal Lung	lung
44	chr1:172189400-172189600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:172189600-172189800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:172189800-172190000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:172190000-172190400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:172190400-172193600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:172190600-172193200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr1:172191000-172193200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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