Variant report

Variant	esv3367684
Chromosome Location	chr1:221892180-221892504
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:221891993..221895094-chr1:221895705..221898533,3	K562	blood:
2	chr1:221887523..221889150-chr1:221891043..221892989,2	MCF-7	breast:
3	chr1:221887650..221891571-chr1:221892438..221898117,9	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144677010	chr1:221892194-221892195	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148534817	chr1:221892198-221892199	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142849529	chr1:221892203-221892204	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544905148	chr1:221892214-221892215	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12074253	chr1:221892235-221892236	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550930787	chr1:221892245-221892246	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114385591	chr1:221892250-221892251	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567738847	chr1:221892347-221892348	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538566417	chr1:221892372-221892373	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114421237	chr1:221892374-221892375	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74770780	chr1:221892388-221892389	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530406914	chr1:221892433-221892434	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557438918	chr1:221892484-221892485	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6668004	chr1:221892488-221892489	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370644684	chr1:221892500-221892501	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	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
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221879600-221902400	Enhancers	Brain Substantia Nigra	brain
2	chr1:221879800-221896800	Enhancers	Colon Smooth Muscle	Colon
3	chr1:221880400-221893200	Enhancers	Primary hematopoietic stem cells	blood
4	chr1:221882600-221893400	Enhancers	Brain Cingulate Gyrus	brain
5	chr1:221882800-221899000	Genic enhancers	HSMM	muscle
6	chr1:221884800-221896200	Enhancers	Rectal Smooth Muscle	rectum
7	chr1:221885800-221892200	Enhancers	NHDF-Ad	bronchial
8	chr1:221886000-221895200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:221886200-221896000	Weak transcription	NHEK	skin
10	chr1:221886600-221896000	Weak transcription	Aorta	Aorta
11	chr1:221886600-221897000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:221886600-221897000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:221886600-221897000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:221887200-221892200	Weak transcription	Thymus	Thymus
15	chr1:221887200-221899000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:221887400-221893400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr1:221887800-221892400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr1:221887800-221893000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:221887800-221894000	Enhancers	Fetal Stomach	stomach
20	chr1:221887800-221898400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:221888000-221893200	Enhancers	Liver	Liver
22	chr1:221888000-221894400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr1:221888000-221899000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:221888000-221903000	Enhancers	Brain Hippocampus Middle	brain
25	chr1:221888400-221892200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:221888400-221892600	Enhancers	Stomach Mucosa	stomach
27	chr1:221888400-221893400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr1:221888600-221892200	Enhancers	Osteobl	bone
29	chr1:221888600-221893200	Enhancers	Fetal Muscle Leg	muscle
30	chr1:221888600-221894000	Enhancers	NHLF	lung
31	chr1:221888600-221896800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr1:221888800-221893000	Enhancers	Fetal Heart	heart
33	chr1:221888800-221898600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr1:221889000-221893000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:221889000-221893200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr1:221889000-221893600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr1:221889000-221896600	Weak transcription	Primary T cells from cord blood	blood
38	chr1:221889200-221892400	Enhancers	Small Intestine	intestine
39	chr1:221889200-221893000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr1:221889200-221893200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:221889200-221893200	Enhancers	Pancreas	Pancrea
42	chr1:221889200-221893200	Enhancers	Psoas Muscle	Psoas
43	chr1:221889400-221892400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
44	chr1:221889400-221893600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr1:221889400-221899600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:221889600-221892800	Enhancers	Fetal Kidney	kidney
47	chr1:221889600-221896400	Weak transcription	Dnd41	blood
48	chr1:221889800-221899000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr1:221890000-221892200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:221890000-221892400	Enhancers	Rectal Mucosa Donor 29	rectum

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