Variant report

Variant	nsv3532
Chromosome Location	chr1:171997451-172042351
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:172015796..172017775-chr1:172021437..172023503,2	K562	blood:
2	chr1:172009534..172012040-chr1:172017929..172019999,2	MCF-7	breast:
3	chr1:172010620..172011265-chr1:172370736..172371242,2	MCF-7	breast:
4	chr1:171999936..172003512-chr1:172007617..172010205,3	K562	blood:
5	chr1:172021401..172023221-chr1:172408357..172410732,2	K562	blood:
6	chr1:172010806..172011514-chr1:172576045..172576635,2	MCF-7	breast:
7	chr1:172010806..172014950-chr1:172015227..172019111,5	K562	blood:
8	chr1:171999936..172003512-chr1:172007617..172010205,3	K562	blood:
9	chr1:172015796..172017775-chr1:172021437..172023503,2	K562	blood:
10	chr1:172009534..172012040-chr1:172017929..172019999,2	MCF-7	breast:
11	chr1:172008308..172011065-chr1:172384057..172386802,2	MCF-7	breast:
12	chr1:172014842..172016444-chr1:172016914..172019213,2	MCF-7	breast:
13	chr1:172010411..172012805-chr1:172411810..172414746,2	MCF-7	breast:
14	chr1:172014842..172016444-chr1:172016914..172019213,2	MCF-7	breast:
15	chr1:172010806..172014950-chr1:172015227..172019111,5	K562	blood:
16	chr1:172041597..172044027-chr1:172053776..172055843,2	MCF-7	breast:
17	chr1:171984516..171987381-chr1:172008713..172010254,2	MCF-7	breast:
18	chr1:171971691..171972193-chr1:172010147..172011060,2	MCF-7	breast:
19	chr1:172010410..172011489-chr1:172368146..172369453,8	MCF-7	breast:
20	chr1:172010329..172011675-chr1:172398087..172399170,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000180999	chromatin interactions
ENSG00000135845	chromatin interactions

Extended variants
information (count: 1607 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1607 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547143628	chr1:171997543-171997544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182290667	chr1:171997549-171997550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571310704	chr1:171997562-171997563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10910938	chr1:171997586-171997587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549584331	chr1:171997605-171997606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567902344	chr1:171997620-171997621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139477339	chr1:171997623-171997624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186605426	chr1:171997644-171997645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571513395	chr1:171997656-171997657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191845611	chr1:171997684-171997685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377619190	chr1:171997690-171997691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371035328	chr1:171997701-171997702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183974053	chr1:171997716-171997717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572189561	chr1:171997718-171997719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541815936	chr1:171997727-171997728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371131617	chr1:171997735-171997736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs58503720	chr1:171997747-171997748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs371375268	chr1:171997757-171997758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554339523	chr1:171997773-171997774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111451342	chr1:171997814-171997815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189377830	chr1:171997856-171997857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553368296	chr1:171997949-171997950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201629311	chr1:171997950-171997951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12059365	chr1:171998001-171998002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs78253481	chr1:171998016-171998017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193161803	chr1:171998021-171998022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369007469	chr1:171998032-171998033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138404086	chr1:171998092-171998093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201398158	chr1:171998093-171998094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199690873	chr1:171998098-171998099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200535622	chr1:171998099-171998100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201270488	chr1:171998100-171998101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185025591	chr1:171998122-171998123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374529480	chr1:171998171-171998172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144827681	chr1:171998212-171998213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147942882	chr1:171998215-171998216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190710671	chr1:171998246-171998247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561423390	chr1:171998263-171998264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531944024	chr1:171998329-171998330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372107377	chr1:171998460-171998461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147405483	chr1:171998477-171998478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs55895051	chr1:171998478-171998479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181888845	chr1:171998532-171998533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185482894	chr1:171998539-171998540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538996100	chr1:171998540-171998541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547374922	chr1:171998573-171998574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565782814	chr1:171998577-171998578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536299476	chr1:171998630-171998631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544802842	chr1:171998632-171998633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs57230765	chr1:171998649-171998650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:93)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171994000-172020400	Weak transcription	Left Ventricle	heart
2	chr1:171994200-172002800	Weak transcription	Brain Anterior Caudate	brain
3	chr1:171994200-172009000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:171999000-172006800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:171999600-172002200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:171999600-172006800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:172000000-172001600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:172000000-172002200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:172000000-172012800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:172000400-172006800	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:172000400-172009800	Weak transcription	Brain Angular Gyrus	brain
12	chr1:172000600-172007000	Weak transcription	Psoas Muscle	Psoas
13	chr1:172000600-172013600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:172000800-172011400	Weak transcription	Right Ventricle	heart
15	chr1:172000800-172013800	Weak transcription	Fetal Brain Female	brain
16	chr1:172001000-172006800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:172001400-172002400	Enhancers	HUVEC	blood vessel
18	chr1:172001400-172019000	Weak transcription	Fetal Brain Male	brain
19	chr1:172001600-172003000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:172001600-172006800	Weak transcription	Brain Substantia Nigra	brain
21	chr1:172002200-172003200	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:172002200-172003200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:172002200-172011600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:172002800-172003200	Strong transcription	Brain Anterior Caudate	brain
25	chr1:172002800-172013200	Weak transcription	Primary T cells from cord blood	blood
26	chr1:172003000-172012400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:172003200-172006800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:172003200-172008200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:172003200-172009800	Weak transcription	Brain Anterior Caudate	brain
30	chr1:172004000-172014000	Weak transcription	Lung	lung
31	chr1:172004200-172008800	Weak transcription	NHEK	skin
32	chr1:172005600-172015200	Weak transcription	HSMMtube	muscle
33	chr1:172006000-172013800	Weak transcription	Brain Germinal Matrix	brain
34	chr1:172006400-172010200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:172006400-172025600	Weak transcription	Adipose Nuclei	Adipose
36	chr1:172006800-172007000	Genic enhancers	Brain Inferior Temporal Lobe	brain
37	chr1:172006800-172007000	Enhancers	Thymus	Thymus
38	chr1:172006800-172007200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:172006800-172007600	Strong transcription	Brain Hippocampus Middle	brain
40	chr1:172006800-172007600	Strong transcription	Brain Substantia Nigra	brain
41	chr1:172006800-172008400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:172006800-172010800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:172007000-172007200	ZNF genes & repeats	Psoas Muscle	Psoas
44	chr1:172007000-172009800	Weak transcription	Aorta	Aorta
45	chr1:172007000-172010600	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr1:172007200-172007600	Weak transcription	Psoas Muscle	Psoas
47	chr1:172007200-172009800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:172007600-172008600	Weak transcription	Brain Hippocampus Middle	brain
49	chr1:172007600-172014000	Weak transcription	Brain Substantia Nigra	brain
50	chr1:172007600-172014800	Weak transcription	Thymus	Thymus

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