Variant report

Variant	nsv520453
Chromosome Location	chr11:17625278-17656148
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	chr11:17628448..17630427-chr11:17632737..17634648,2	MCF-7	breast:
2	chr11:17652629..17655545-chr17:62222984..62224755,2	MCF-7	breast:
3	chr11:17628448..17630427-chr11:17632737..17634648,2	MCF-7	breast:
4	chr11:17649369..17651435-chr11:17694889..17696565,2	MCF-7	breast:
5	chr11:17652276..17654406-chr11:17655549..17657899,2	K562	blood:
6	chr11:17652276..17654406-chr11:17655549..17657899,2	K562	blood:
7	chr11:17622327..17624526-chr11:17631868..17633701,2	K562	blood:
8	chr11:17620421..17621053-chr11:17653404..17653971,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000199753	chromatin interactions
ENSG00000266402	chromatin interactions

Extended variants
information (count: 815 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:815 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11024337	chr11:17625278-17625279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566398212	chr11:17625287-17625288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539735744	chr11:17625302-17625303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191636142	chr11:17625313-17625314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78550843	chr11:17625330-17625331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574509577	chr11:17625353-17625354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35848211	chr11:17625385-17625386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183736114	chr11:17625406-17625407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74546512	chr11:17625409-17625410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186573409	chr11:17625482-17625483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541047750	chr11:17625520-17625521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559068596	chr11:17625548-17625549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541763926	chr11:17625553-17625554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533296318	chr11:17625558-17625559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114262070	chr11:17625658-17625659	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs563145806	chr11:17625675-17625676	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs530578232	chr11:17625692-17625693	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs549878151	chr11:17625722-17625723	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs568186842	chr11:17625751-17625752	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs376414629	chr11:17625759-17625760	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs368864031	chr11:17625761-17625762	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs373595925	chr11:17625762-17625763	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs376054761	chr11:17625764-17625765	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs560002692	chr11:17625766-17625767	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs529355008	chr11:17625800-17625801	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs547811537	chr11:17625837-17625838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565937950	chr11:17625841-17625842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149025393	chr11:17625865-17625866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558130333	chr11:17625866-17625867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527426912	chr11:17625894-17625895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79466394	chr11:17625923-17625924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7107432	chr11:17625937-17625938	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs11603536	chr11:17625971-17625972	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs77056264	chr11:17625988-17625989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534408344	chr11:17625989-17625990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372119824	chr11:17626013-17626014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552977398	chr11:17626024-17626025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs67282144	chr11:17626042-17626043	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs545297115	chr11:17626079-17626080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563206969	chr11:17626082-17626083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575116693	chr11:17626086-17626087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138733938	chr11:17626111-17626112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560740690	chr11:17626131-17626132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370169225	chr11:17626160-17626161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529436907	chr11:17626183-17626184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547527665	chr11:17626194-17626195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191166824	chr11:17626199-17626200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533143052	chr11:17626208-17626209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76380219	chr11:17626212-17626213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79945320	chr11:17626243-17626244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17620400-17628800	Weak transcription	Right Atrium	heart
2	chr11:17623400-17626000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:17623600-17627000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr11:17623600-17627600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:17624400-17629800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:17625600-17625800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr11:17625800-17626800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:17626400-17626600	Enhancers	Fetal Muscle Leg	muscle
9	chr11:17626600-17627400	Weak transcription	Fetal Muscle Leg	muscle
10	chr11:17627000-17628400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr11:17627200-17628200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr11:17627400-17628400	Enhancers	Fetal Muscle Leg	muscle
13	chr11:17627600-17628000	Enhancers	Left Ventricle	heart
14	chr11:17627600-17628400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr11:17627800-17628200	Enhancers	Psoas Muscle	Psoas
16	chr11:17627800-17628400	Enhancers	Fetal Heart	heart
17	chr11:17628200-17628600	Enhancers	K562	blood
18	chr11:17628800-17629000	Enhancers	Right Atrium	heart
19	chr11:17629200-17629400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:17629800-17630200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:17630200-17632000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:17631000-17632800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr11:17631200-17632800	Enhancers	Fetal Muscle Leg	muscle
24	chr11:17631600-17631800	Enhancers	Right Ventricle	heart
25	chr11:17631600-17632400	Enhancers	HSMMtube	muscle
26	chr11:17631600-17632600	Bivalent Enhancer	Placenta	Placenta
27	chr11:17631800-17634000	Weak transcription	Right Ventricle	heart
28	chr11:17632000-17632800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:17632800-17633800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:17633800-17634200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:17633800-17634200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:17633800-17634200	Enhancers	Spleen	Spleen
33	chr11:17634000-17634200	Enhancers	Right Ventricle	heart
34	chr11:17634200-17636400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:17636400-17636600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:17640600-17641000	Active TSS	Right Atrium	heart
37	chr11:17650600-17651200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:17650800-17652800	Enhancers	Fetal Muscle Leg	muscle
39	chr11:17651800-17652800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr11:17652200-17653800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr11:17652400-17653600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr11:17653200-17653800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:17653200-17654200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr11:17653400-17653800	Enhancers	Psoas Muscle	Psoas
45	chr11:17653800-17655200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:17653800-17668600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr11:17655200-17655600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:17655400-17656200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:17655600-17666800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:17655800-17656200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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