Variant report

Variant	nsv549177
Chromosome Location	chr1:213007465-213009657
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:213000835..213002742-chr1:213006925..213009621,2	K562	blood:
2	chr1:212782138..212783676-chr1:213005899..213008453,2	K562	blood:

Variant related genes	Relation type
ENSG00000162772	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57663900	chr1:213007467-213007468	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs575953050	chr1:213007519-213007520	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs7556142	chr1:213007542-213007543	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs150847718	chr1:213007600-213007601	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs191632708	chr1:213007615-213007616	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs35301734	chr1:213007640-213007641	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs7556317	chr1:213007706-213007707	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs573172782	chr1:213007724-213007725	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531452545	chr1:213007748-213007749	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs540282294	chr1:213007808-213007809	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs565008222	chr1:213007887-213007888	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs199498302	chr1:213007947-213007948	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs71573854	chr1:213007956-213007957	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs377612627	chr1:213007967-213007968	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs112870794	chr1:213008010-213008011	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs550319487	chr1:213008035-213008036	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs562333190	chr1:213008075-213008076	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs374552872	chr1:213008084-213008085	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs571487143	chr1:213008085-213008086	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs145334893	chr1:213008122-213008123	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs61832054	chr1:213008165-213008166	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
22	rs533754527	chr1:213008182-213008183	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs147668657	chr1:213008198-213008199	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs570524228	chr1:213008222-213008223	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs116097232	chr1:213008271-213008272	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs368698654	chr1:213008341-213008342	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs183795148	chr1:213008375-213008376	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs188283624	chr1:213008382-213008383	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs140569935	chr1:213008455-213008456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78143278	chr1:213008548-213008549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149742681	chr1:213008588-213008589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566607491	chr1:213008603-213008604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576865891	chr1:213008624-213008625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145672360	chr1:213008652-213008653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11806446	chr1:213008664-213008665	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs148870837	chr1:213008732-213008733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556296080	chr1:213008781-213008782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370599997	chr1:213008811-213008812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10399914	chr1:213008819-213008820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
40	rs560350621	chr1:213008829-213008830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527602338	chr1:213008922-213008923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545656469	chr1:213008923-213008924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552548638	chr1:213009004-213009005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570461156	chr1:213009021-213009022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531365366	chr1:213009092-213009093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376290317	chr1:213009122-213009123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568075332	chr1:213009146-213009147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536825310	chr1:213009156-213009157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369495200	chr1:213009179-213009180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375808680	chr1:213009187-213009188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	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	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	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
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

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212999400-213009400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:213001800-213008400	Weak transcription	Stomach Mucosa	stomach
3	chr1:213005400-213007800	Enhancers	GM12878-XiMat	blood
4	chr1:213005800-213009800	Enhancers	Fetal Intestine Small	intestine
5	chr1:213006000-213008200	Enhancers	Fetal Intestine Large	intestine
6	chr1:213006400-213007800	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr1:213006600-213008000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:213006800-213007800	Weak transcription	Colonic Mucosa	Colon
9	chr1:213006800-213007800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:213007400-213007600	Flanking Active TSS	HepG2	liver
11	chr1:213007400-213007800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:213007400-213007800	Flanking Active TSS	A549	lung
13	chr1:213007600-213008200	Enhancers	HepG2	liver
14	chr1:213007800-213008200	Enhancers	Colonic Mucosa	Colon
15	chr1:213007800-213008400	Enhancers	A549	lung
16	chr1:213008000-213008200	Enhancers	Duodenum Mucosa	Duodenum
17	chr1:213008400-213008600	Enhancers	Stomach Mucosa	stomach
18	chr1:213008600-213009000	Weak transcription	Stomach Mucosa	stomach
19	chr1:213009000-213009400	Enhancers	Stomach Mucosa	stomach
20	chr1:213009400-213009600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links