Variant report

Variant	nsv873179
Chromosome Location	chr1:217056893-217112871
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:217065075..217066697-chr1:217076274..217078802,2	MCF-7	breast:
2	chr1:217064761..217066366-chr1:217072668..217074460,2	MCF-7	breast:
3	chr1:217064761..217066366-chr1:217072668..217074460,2	MCF-7	breast:
4	chr1:217065075..217066697-chr1:217076274..217078802,2	MCF-7	breast:
5	chr1:217085881..217086616-chr4:21121511..21122023,2	MCF-7	breast:
6	chr1:216936771..216938966-chr1:217059681..217061432,2	MCF-7	breast:
7	chr1:217095512..217097116-chr1:217098734..217100728,2	MCF-7	breast:
8	chr1:217095512..217097116-chr1:217098734..217100728,2	MCF-7	breast:

No data

Extended variants
information (count: 2315 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2315 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11117715	chr1:217056893-217056894	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142963738	chr1:217056919-217056920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538806058	chr1:217057060-217057061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377272457	chr1:217057087-217057088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569179819	chr1:217057131-217057132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151098317	chr1:217057134-217057135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554521380	chr1:217057163-217057164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112612312	chr1:217057204-217057205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs68101703	chr1:217057205-217057206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115931126	chr1:217057256-217057257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534026730	chr1:217057292-217057293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552296299	chr1:217057305-217057306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369572735	chr1:217057349-217057350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554199050	chr1:217057389-217057390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374281514	chr1:217057400-217057401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572956892	chr1:217057401-217057402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545198070	chr1:217057419-217057420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1436899	chr1:217057482-217057483	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs575597877	chr1:217057502-217057503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141051307	chr1:217057512-217057513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191278808	chr1:217057516-217057517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76979141	chr1:217057562-217057563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183392478	chr1:217057603-217057604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150237454	chr1:217057666-217057667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575093564	chr1:217057726-217057727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532587878	chr1:217057814-217057815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552318666	chr1:217057898-217057899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77832534	chr1:217057911-217057912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139143668	chr1:217057923-217057924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548604987	chr1:217057939-217057940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568372585	chr1:217057965-217057966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141638194	chr1:217058044-217058045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147049086	chr1:217058045-217058046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138275791	chr1:217058046-217058047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538873935	chr1:217058082-217058083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2576266	chr1:217058088-217058089	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs575655039	chr1:217058103-217058104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143769570	chr1:217058117-217058118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11117716	chr1:217058231-217058232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574351743	chr1:217058305-217058306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1436900	chr1:217058479-217058480	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
42	rs560006674	chr1:217058518-217058519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1542000	chr1:217058548-217058549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532062666	chr1:217058706-217058707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546035089	chr1:217058720-217058721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144160263	chr1:217058722-217058723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531751191	chr1:217058745-217058746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187700576	chr1:217058748-217058749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568710297	chr1:217058767-217058768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527703327	chr1:217058786-217058787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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
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
Ovarian cancer	21720365	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:450 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217055600-217062200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:217056800-217057000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:217056800-217058400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:217056800-217058800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:217057000-217058800	Enhancers	Fetal Intestine Small	intestine
6	chr1:217057000-217061200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:217057400-217058400	Enhancers	Small Intestine	intestine
8	chr1:217057400-217058600	Enhancers	HMEC	breast
9	chr1:217057600-217058000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:217057600-217058400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:217057600-217058600	Enhancers	NHEK	skin
12	chr1:217057600-217058800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:217057600-217058800	Enhancers	Duodenum Mucosa	Duodenum
14	chr1:217057800-217058000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr1:217057800-217058400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:217057800-217058400	Enhancers	Fetal Intestine Large	intestine
17	chr1:217057800-217058400	Enhancers	Stomach Mucosa	stomach
18	chr1:217057800-217058400	Enhancers	Stomach Smooth Muscle	stomach
19	chr1:217057800-217058600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:217057800-217058600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:217058000-217058400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:217058000-217058600	Enhancers	Fetal Kidney	kidney
23	chr1:217058000-217062200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:217058200-217058800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr1:217058200-217067600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:217058400-217061600	Weak transcription	Fetal Intestine Large	intestine
27	chr1:217058400-217061800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:217058400-217062000	Weak transcription	Stomach Mucosa	stomach
29	chr1:217058400-217065200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:217058400-217067800	Weak transcription	Small Intestine	intestine
31	chr1:217058600-217061400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:217058600-217062000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:217058600-217067800	Weak transcription	Fetal Kidney	kidney
34	chr1:217058800-217061400	Weak transcription	Fetal Intestine Small	intestine
35	chr1:217058800-217062000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:217058800-217066000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:217060200-217060600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:217060600-217062400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:217061200-217062600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr1:217061400-217062400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr1:217061400-217062600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr1:217061400-217062800	Enhancers	Fetal Intestine Small	intestine
43	chr1:217061400-217063000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:217061600-217063000	Enhancers	Fetal Heart	heart
45	chr1:217061600-217063000	Enhancers	Fetal Intestine Large	intestine
46	chr1:217061800-217062800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:217062000-217062400	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr1:217062000-217062400	Enhancers	Placenta Amnion	Placenta Amnion
49	chr1:217062000-217062600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr1:217062000-217062800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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