Variant report

Variant	nsv872540
Chromosome Location	chr1:169667355-169671088
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169669179..169671320-chr1:169675894..169677671,2	K562	blood:
2	chr1:169668675..169669722-chr1:169778297..169779287,4	MCF-7	breast:
3	chr1:169668678..169669639-chr1:169778642..169779434,3	MCF-7	breast:

Extended variants
information (count: 186 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:186 , 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	rs4987351	chr1:169667355-169667356	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149122842	chr1:169667365-169667366	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536290545	chr1:169667388-169667389	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192243528	chr1:169667563-169667564	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs533454709	chr1:169667573-169667574	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs149968730	chr1:169667612-169667613	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs397788373	chr1:169667615-169667616	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs74121756	chr1:169667616-169667617	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs74121757	chr1:169667617-169667618	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs72274214	chr1:169667622-169667623	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs57748843	chr1:169667631-169667632	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs59140938	chr1:169667633-169667634	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs12036937	chr1:169667635-169667636	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs61582086	chr1:169667636-169667637	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs185001429	chr1:169667665-169667666	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs569233501	chr1:169667667-169667668	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs537881495	chr1:169667668-169667669	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs145420735	chr1:169667682-169667683	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs59716542	chr1:169667716-169667717	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs116724149	chr1:169667717-169667718	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs12029669	chr1:169667750-169667751	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs201659019	chr1:169667772-169667773	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs189331391	chr1:169667827-169667828	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs555708711	chr1:169667841-169667842	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs191463397	chr1:169667848-169667849	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs542288575	chr1:169667856-169667857	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs376969549	chr1:169667898-169667899	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs200789782	chr1:169667912-169667913	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs4987350	chr1:169667921-169667922	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs76091270	chr1:169667923-169667924	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs77268678	chr1:169667931-169667932	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs532061416	chr1:169667955-169667956	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs10919223	chr1:169667970-169667971	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs4987349	chr1:169667979-169667980	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs116021946	chr1:169668067-169668068	Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4987348	chr1:169668069-169668070	Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs566075358	chr1:169668079-169668080	Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201349223	chr1:169668082-169668083	Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543325229	chr1:169668097-169668098	Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530187964	chr1:169668117-169668118	Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184256654	chr1:169668121-169668122	Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4987398	chr1:169668134-169668135	Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537755488	chr1:169668150-169668151	Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147832254	chr1:169668154-169668155	Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141215351	chr1:169668209-169668210	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189155310	chr1:169668239-169668240	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113449818	chr1:169668298-169668299	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553912746	chr1:169668322-169668323	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572070863	chr1:169668360-169668361	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4987347	chr1:169668448-169668449	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

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
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
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
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Cancer	20164920	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169653200-169671600	Weak transcription	Spleen	Spleen
2	chr1:169662000-169667400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:169662400-169676000	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr1:169663200-169669000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:169663200-169674000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:169664000-169673400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:169664000-169674000	Genic enhancers	Fetal Thymus	thymus
8	chr1:169664000-169674200	Genic enhancers	Primary T cells fromperipheralblood	blood
9	chr1:169664200-169670400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr1:169664400-169670800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr1:169664800-169669600	Genic enhancers	Dnd41	blood
12	chr1:169665200-169668000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr1:169665400-169669600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:169665800-169667600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:169665800-169670000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
16	chr1:169666000-169669600	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr1:169666200-169667400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:169666200-169667400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:169666200-169668400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr1:169666200-169668600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:169666200-169669600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:169666200-169669600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:169666200-169669600	Weak transcription	Thymus	Thymus
24	chr1:169666200-169671600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:169666200-169673800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
26	chr1:169666400-169667800	Weak transcription	HUVEC	blood vessel
27	chr1:169666600-169669600	Enhancers	Primary hematopoietic stem cells	blood
28	chr1:169666800-169667400	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr1:169667000-169667400	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
30	chr1:169667000-169667600	Flanking Active TSS	GM12878-XiMat	blood
31	chr1:169667200-169667600	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
32	chr1:169667200-169667800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr1:169667400-169667600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:169667400-169668000	Enhancers	Primary B cells from cord blood	blood
35	chr1:169667400-169668000	Genic enhancers	Primary T cells from cord blood	blood
36	chr1:169667400-169668000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:169667400-169668800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:169667600-169668400	Enhancers	GM12878-XiMat	blood
39	chr1:169667600-169670000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:169667600-169673600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
41	chr1:169667600-169676800	Genic enhancers	Primary monocytes fromperipheralblood	blood
42	chr1:169667800-169668400	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
43	chr1:169668000-169668200	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr1:169668000-169668600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:169668000-169668600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr1:169668000-169677400	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
47	chr1:169668200-169668400	Enhancers	HUVEC	blood vessel
48	chr1:169668200-169669600	Genic enhancers	Primary B cells from cord blood	blood
49	chr1:169668400-169668600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr1:169668400-169668600	Flanking Active TSS	GM12878-XiMat	blood

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