Variant report

Variant	esv3388508
Chromosome Location	chr1:220814606-220826814
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 421 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576408050	chr1:220814649-220814650	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs535355791	chr1:220814674-220814675	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs148648623	chr1:220814732-220814733	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs572264201	chr1:220814752-220814753	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs76234844	chr1:220814769-220814770	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs79867738	chr1:220814795-220814796	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs564280562	chr1:220814870-220814871	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527987457	chr1:220814886-220814887	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547818864	chr1:220814911-220814912	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368220959	chr1:220814985-220814986	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115812449	chr1:220814987-220814988	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543524810	chr1:220815005-220815006	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs184659428	chr1:220815009-220815010	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs536876092	chr1:220815010-220815011	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs528917994	chr1:220815015-220815016	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs548451668	chr1:220815019-220815020	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs187064697	chr1:220815129-220815130	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs527871911	chr1:220815182-220815183	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs142103221	chr1:220815252-220815253	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571030106	chr1:220815262-220815263	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539521673	chr1:220815280-220815281	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550266725	chr1:220815288-220815289	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569937317	chr1:220815348-220815349	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534630171	chr1:220815437-220815438	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191811397	chr1:220815439-220815440	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555687625	chr1:220815453-220815454	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572327098	chr1:220815507-220815508	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534917345	chr1:220815508-220815509	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184355816	chr1:220815548-220815549	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74582781	chr1:220815573-220815574	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146732699	chr1:220815581-220815582	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs207482201	chr1:220815600-220815601	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569733469	chr1:220815602-220815603	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113672568	chr1:220815603-220815604	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189251454	chr1:220815606-220815607	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377289169	chr1:220815628-220815629	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74749342	chr1:220815666-220815667	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78838358	chr1:220815668-220815669	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538364207	chr1:220815684-220815685	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377642016	chr1:220815713-220815714	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553399830	chr1:220815794-220815795	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542256691	chr1:220815797-220815798	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369239420	chr1:220815805-220815806	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs567742306	chr1:220815847-220815848	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs532775800	chr1:220815848-220815849	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs527934372	chr1:220815849-220815850	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs11118583	chr1:220815905-220815906	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs575423087	chr1:220815991-220815992	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs564490479	chr1:220816002-220816003	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs182058005	chr1:220816015-220816016	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Breast cancer	21858162	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220767800-220826400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:220778800-220837200	Weak transcription	NHEK	skin
3	chr1:220782800-220825800	Weak transcription	Fetal Brain Male	brain
4	chr1:220783200-220815000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:220784200-220836600	Weak transcription	Fetal Lung	lung
6	chr1:220784800-220815000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:220785000-220815400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:220791200-220828600	Weak transcription	Right Ventricle	heart
9	chr1:220791200-220841200	Weak transcription	HMEC	breast
10	chr1:220792000-220834200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:220796200-220827800	Weak transcription	Gastric	stomach
12	chr1:220798000-220836400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:220798800-220826200	Weak transcription	Brain Angular Gyrus	brain
14	chr1:220799600-220827000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:220800000-220814800	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:220800000-220837800	Weak transcription	Esophagus	oesophagus
17	chr1:220800800-220826400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:220801800-220815200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:220802400-220826400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:220805000-220815200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:220805000-220815200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:220805200-220827200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:220807000-220815400	Weak transcription	Adipose Nuclei	Adipose
24	chr1:220807400-220816600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:220807400-220829800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:220807800-220828800	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:220807800-220836400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:220808200-220815200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:220808600-220815800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:220808600-220816800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:220809400-220823200	Weak transcription	Left Ventricle	heart
32	chr1:220809400-220827000	Weak transcription	Brain Anterior Caudate	brain
33	chr1:220810000-220815200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:220810800-220826200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:220811400-220816600	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:220811600-220814800	Weak transcription	Brain Germinal Matrix	brain
37	chr1:220811600-220815000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:220811800-220815000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:220811800-220816800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr1:220811800-220825400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:220812200-220816000	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr1:220812800-220815600	Strong transcription	Fetal Brain Female	brain
43	chr1:220813400-220814800	Enhancers	Fetal Heart	heart
44	chr1:220813600-220815000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:220813600-220816000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr1:220813600-220836000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr1:220814000-220815200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:220814000-220816000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:220814000-220817200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:220814000-220820000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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