Variant report

Variant	esv1834798
Chromosome Location	chr1:169226902-169246955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 696 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:696 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34735555	chr1:169226902-169226903	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34758802	chr1:169226916-169226917	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs10919116	chr1:169226939-169226940	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs77201370	chr1:169226940-169226941	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188998387	chr1:169226949-169226950	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531683029	chr1:169226960-169226961	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181822297	chr1:169226962-169226963	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564974857	chr1:169226963-169226964	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150902229	chr1:169226965-169226966	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139427968	chr1:169226977-169226978	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75866973	chr1:169226997-169226998	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150029890	chr1:169227033-169227034	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376905231	chr1:169227038-169227039	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549016444	chr1:169227043-169227044	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75599265	chr1:169227087-169227088	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546962650	chr1:169227100-169227101	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537980179	chr1:169227170-169227171	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78158820	chr1:169227186-169227187	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76744225	chr1:169227254-169227255	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111805132	chr1:169227335-169227336	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186372670	chr1:169227342-169227343	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80342369	chr1:169227379-169227380	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189693424	chr1:169227405-169227406	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147973091	chr1:169227413-169227414	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555189040	chr1:169227425-169227426	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114711984	chr1:169227441-169227442	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78393067	chr1:169227445-169227446	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538869861	chr1:169227446-169227447	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543540633	chr1:169227471-169227472	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7418266	chr1:169227525-169227526	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs532388703	chr1:169227530-169227531	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544864089	chr1:169227577-169227578	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560191857	chr1:169227578-169227579	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200814239	chr1:169227585-169227586	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201308163	chr1:169227593-169227594	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201325126	chr1:169227614-169227615	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs76392263	chr1:169227620-169227621	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs71121749	chr1:169227625-169227626	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs71523136	chr1:169227630-169227631	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs200021524	chr1:169227634-169227635	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs200144410	chr1:169227636-169227637	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs2420013	chr1:169227637-169227638	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs201220799	chr1:169227638-169227639	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs2901032	chr1:169227639-169227640	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs2901033	chr1:169227641-169227642	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs3981318	chr1:169227643-169227644	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs55820304	chr1:169227644-169227645	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs1476064	chr1:169227645-169227646	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs1476063	chr1:169227647-169227648	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs141938051	chr1:169227652-169227653	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169172600-169227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:169219400-169227000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:169220000-169229800	Weak transcription	HUVEC	blood vessel
4	chr1:169220600-169230000	Weak transcription	Liver	Liver
5	chr1:169224800-169227400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:169225000-169227000	Weak transcription	Fetal Kidney	kidney
7	chr1:169225000-169229800	Weak transcription	Primary T cells from cord blood	blood
8	chr1:169225400-169227000	Weak transcription	Primary B cells from cord blood	blood
9	chr1:169226400-169227400	ZNF genes & repeats	Fetal Stomach	stomach
10	chr1:169226400-169227600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:169226400-169227600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:169226400-169227600	ZNF genes & repeats	Fetal Intestine Small	intestine
13	chr1:169226800-169228200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:169227000-169227600	ZNF genes & repeats	Primary B cells from cord blood	blood
15	chr1:169227000-169227600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:169227000-169227600	Strong transcription	Fetal Kidney	kidney
17	chr1:169227000-169228400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:169227200-169227400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:169227200-169227600	ZNF genes & repeats	Fetal Intestine Large	intestine
20	chr1:169227200-169227800	ZNF genes & repeats	Fetal Lung	lung
21	chr1:169227200-169227800	Weak transcription	Lung	lung
22	chr1:169227200-169228200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
23	chr1:169227200-169231200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr1:169227400-169227600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:169227600-169231000	Weak transcription	Primary B cells from cord blood	blood
26	chr1:169227600-169231800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:169227600-169233000	Weak transcription	Fetal Kidney	kidney
28	chr1:169227600-169257400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:169228200-169228400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:169228200-169229800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:169228400-169230400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr1:169228400-169230600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr1:169228400-169230800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:169228400-169231000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:169228400-169257400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:169228600-169229200	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr1:169229000-169230200	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr1:169229000-169233000	Weak transcription	Brain Angular Gyrus	brain
39	chr1:169229200-169230400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr1:169229800-169230200	ZNF genes & repeats	Fetal Brain Female	brain
41	chr1:169229800-169230400	Enhancers	Primary hematopoietic stem cells	blood
42	chr1:169229800-169230400	Strong transcription	HUVEC	blood vessel
43	chr1:169229800-169232000	Strong transcription	Primary T cells from cord blood	blood
44	chr1:169229800-169232000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
45	chr1:169230400-169230800	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr1:169230400-169232200	Weak transcription	HUVEC	blood vessel
47	chr1:169230400-169235400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr1:169230600-169231200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr1:169230800-169231000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:169231000-169234000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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