Variant report

Variant	nsv1001684
Chromosome Location	chr1:168636622-168663398
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:168651134..168652668-chr1:169074138..169076300,2	MCF-7	breast:
2	chr1:168408540..168410593-chr1:168659202..168660877,2	MCF-7	breast:
3	chr1:168635367..168638330-chr1:168655240..168657100,2	MCF-7	breast:
4	chr1:168658040..168660028-chr1:169075019..169076893,2	MCF-7	breast:
5	chr1:168635367..168638330-chr1:168655240..168657100,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143153	chromatin interactions

Extended variants
information (count: 961 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:961 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11583943	chr1:168636622-168636623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs377550747	chr1:168636666-168636667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142494904	chr1:168636692-168636693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532715546	chr1:168636757-168636758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540645150	chr1:168636789-168636790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541236390	chr1:168636799-168636800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74122710	chr1:168636809-168636810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530376452	chr1:168636826-168636827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146904620	chr1:168636840-168636841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560507853	chr1:168636906-168636907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147949848	chr1:168636928-168636929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530845995	chr1:168636938-168636939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552619843	chr1:168636952-168636953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570831440	chr1:168636961-168636962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369714085	chr1:168636972-168636973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148933458	chr1:168636987-168636988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553513505	chr1:168637036-168637037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373098660	chr1:168637069-168637070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565543711	chr1:168637081-168637082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1323526	chr1:168637108-168637109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs185640337	chr1:168637194-168637195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190358811	chr1:168637210-168637211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562504627	chr1:168637218-168637219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558544789	chr1:168637242-168637243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576827738	chr1:168637277-168637278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567301127	chr1:168637279-168637280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541129700	chr1:168637283-168637284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs57076774	chr1:168637284-168637285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143649259	chr1:168637295-168637296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74491449	chr1:168637323-168637324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542526077	chr1:168637417-168637418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368328021	chr1:168637420-168637421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61501832	chr1:168637454-168637455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71557637	chr1:168637465-168637466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564000739	chr1:168637482-168637483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531258712	chr1:168637625-168637626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552256887	chr1:168637637-168637638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570836500	chr1:168637641-168637642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148121718	chr1:168637664-168637665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371146917	chr1:168637665-168637666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35424786	chr1:168637791-168637792	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs376187513	chr1:168637802-168637803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35389153	chr1:168637810-168637811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs183355287	chr1:168637814-168637815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114818103	chr1:168637953-168637954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35505475	chr1:168637958-168637959	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs558226493	chr1:168637959-168637960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527952340	chr1:168638016-168638017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546992964	chr1:168638018-168638019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs55934671	chr1:168638119-168638120	Weak transcription	n/a	n/a	Overlapped CNVs	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
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	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
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
Breast cancer	21509527	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
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168634000-168640800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:168640600-168641200	Enhancers	HMEC	breast
3	chr1:168640800-168641000	Enhancers	Brain Substantia Nigra	brain
4	chr1:168640800-168641200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:168641000-168641200	Enhancers	Brain Angular Gyrus	brain
6	chr1:168641000-168641200	Enhancers	Brain Hippocampus Middle	brain
7	chr1:168641000-168641200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr1:168641200-168642200	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:168641200-168642400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:168641200-168642400	Weak transcription	Brain Substantia Nigra	brain
11	chr1:168641200-168644800	Weak transcription	HMEC	breast
12	chr1:168641800-168644000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:168642000-168647200	Weak transcription	Brain Angular Gyrus	brain
14	chr1:168642200-168642600	Enhancers	Brain Hippocampus Middle	brain
15	chr1:168642200-168642800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:168642200-168643400	Enhancers	Brain Anterior Caudate	brain
17	chr1:168642200-168643800	Enhancers	Brain Cingulate Gyrus	brain
18	chr1:168642400-168642600	Enhancers	Brain Substantia Nigra	brain
19	chr1:168642400-168643600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr1:168642400-168644000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:168642600-168643400	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:168642600-168643400	Weak transcription	Brain Substantia Nigra	brain
23	chr1:168642800-168644800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:168643400-168643600	Enhancers	Brain Hippocampus Middle	brain
25	chr1:168643400-168644000	Enhancers	Brain Substantia Nigra	brain
26	chr1:168643400-168645200	Weak transcription	Brain Anterior Caudate	brain
27	chr1:168643600-168645800	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:168643600-168646800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:168643800-168645400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:168644000-168645800	Weak transcription	Brain Substantia Nigra	brain
31	chr1:168644800-168645000	Enhancers	HMEC	breast
32	chr1:168644800-168646000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:168644800-168647400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:168645000-168645400	Weak transcription	HMEC	breast
35	chr1:168645000-168645600	Enhancers	NHEK	skin
36	chr1:168645200-168645800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:168645200-168646200	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr1:168645200-168646200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:168645200-168646200	Enhancers	Brain Anterior Caudate	brain
40	chr1:168645400-168646000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:168645400-168646000	Enhancers	Brain Cingulate Gyrus	brain
42	chr1:168645400-168646000	Enhancers	HMEC	breast
43	chr1:168645600-168646000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr1:168645800-168646000	Enhancers	Brain Hippocampus Middle	brain
45	chr1:168645800-168646000	Enhancers	Brain Substantia Nigra	brain
46	chr1:168646000-168646400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr1:168646000-168646400	Weak transcription	Brain Substantia Nigra	brain
48	chr1:168646400-168647200	Enhancers	Brain Substantia Nigra	brain
49	chr1:168646800-168647000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr1:168647200-168647400	Enhancers	Brain Angular Gyrus	brain

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