Variant report

Variant	esv3329869
Chromosome Location	chr1:47046065-47049663
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47046807..47049306-chr1:47050257..47052291,2	K562	blood:
2	chr1:47048260..47050517-chr1:47077583..47079223,2	K562	blood:
3	chr1:47036966..47039803-chr1:47043494..47046451,2	K562	blood:

Variant related genes	Relation type
ENSG00000079277	chromatin interactions

Extended variants
information (count: 157 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:157 , 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	rs540540643	chr1:47046079-47046080	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs564880026	chr1:47046085-47046086	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs61783118	chr1:47046101-47046102	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs144599047	chr1:47046118-47046119	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374751007	chr1:47046216-47046217	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs146757228	chr1:47046237-47046238	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200643869	chr1:47046255-47046256	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368379118	chr1:47046256-47046257	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372667430	chr1:47046257-47046258	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs550399139	chr1:47046260-47046261	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs148444989	chr1:47046266-47046267	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs112214483	chr1:47046274-47046275	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs56351860	chr1:47046291-47046292	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs372995446	chr1:47046317-47046318	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs377100534	chr1:47046328-47046329	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374547606	chr1:47046340-47046341	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs34417476	chr1:47046356-47046357	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs529136304	chr1:47046439-47046440	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs60914701	chr1:47046466-47046467	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs530161728	chr1:47046476-47046477	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs138550447	chr1:47046519-47046520	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs566874063	chr1:47046531-47046532	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs78373160	chr1:47046544-47046545	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs534181314	chr1:47046585-47046586	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs35705884	chr1:47046600-47046601	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs111584597	chr1:47046613-47046614	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576694194	chr1:47046642-47046643	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191000389	chr1:47046643-47046644	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571203949	chr1:47046679-47046680	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113906272	chr1:47046696-47046697	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556826406	chr1:47046701-47046702	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575396368	chr1:47046739-47046740	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573270754	chr1:47046742-47046743	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371118653	chr1:47046750-47046751	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554242713	chr1:47046766-47046767	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538686387	chr1:47046803-47046804	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542392202	chr1:47046848-47046849	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs572114810	chr1:47046859-47046860	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs558521641	chr1:47046872-47046873	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs36076823	chr1:47046901-47046902	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs540111291	chr1:47046920-47046921	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs12074458	chr1:47046930-47046931	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs377635642	chr1:47046935-47046936	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs137989476	chr1:47046998-47046999	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs200384550	chr1:47047010-47047011	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs543980833	chr1:47047011-47047012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs138283152	chr1:47047015-47047016	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs368606673	chr1:47047038-47047039	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs371846150	chr1:47047039-47047040	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs562376345	chr1:47047053-47047054	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47020800-47047400	Weak transcription	Brain Germinal Matrix	brain
2	chr1:47021000-47057000	Weak transcription	Fetal Brain Male	brain
3	chr1:47021800-47054600	Weak transcription	A549	lung
4	chr1:47022400-47053600	Strong transcription	Thymus	Thymus
5	chr1:47022600-47051400	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:47022600-47051600	Strong transcription	Liver	Liver
7	chr1:47023000-47047400	Strong transcription	Primary T cells from cord blood	blood
8	chr1:47023200-47046600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:47023200-47047200	Strong transcription	Fetal Thymus	thymus
10	chr1:47023200-47051200	Strong transcription	Fetal Muscle Leg	muscle
11	chr1:47023200-47060000	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:47023800-47053200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:47024000-47054800	Weak transcription	HUVEC	blood vessel
14	chr1:47025600-47062400	Weak transcription	Fetal Heart	heart
15	chr1:47027200-47047600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:47032600-47046200	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr1:47035200-47047600	Weak transcription	NHDF-Ad	bronchial
18	chr1:47035200-47048000	Strong transcription	Duodenum Mucosa	Duodenum
19	chr1:47035200-47053000	Strong transcription	Spleen	Spleen
20	chr1:47035600-47053400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr1:47036000-47047400	Weak transcription	Fetal Lung	lung
22	chr1:47036000-47056400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:47036000-47060000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr1:47036400-47053200	Strong transcription	Fetal Stomach	stomach
25	chr1:47037000-47046400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:47037800-47047400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr1:47037800-47057000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:47038400-47053200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:47038600-47050800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr1:47039000-47052600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:47039000-47054800	Weak transcription	Hela-S3	cervix
32	chr1:47039200-47046400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:47039200-47048200	Weak transcription	Brain Substantia Nigra	brain
34	chr1:47039200-47053000	Weak transcription	Right Atrium	heart
35	chr1:47039200-47060400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:47039400-47050200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:47039600-47052400	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:47039600-47060000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:47040000-47046200	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:47040000-47053000	Strong transcription	Left Ventricle	heart
41	chr1:47040000-47053200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:47040200-47060400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:47040800-47053000	Strong transcription	NHEK	skin
44	chr1:47041000-47047000	Strong transcription	Gastric	stomach
45	chr1:47041000-47047200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr1:47041000-47053600	Strong transcription	Aorta	Aorta
47	chr1:47041200-47046200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:47041200-47052400	Strong transcription	Right Ventricle	heart
49	chr1:47041200-47053200	Strong transcription	Fetal Intestine Small	intestine
50	chr1:47041200-47054800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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