Variant report

Variant	nsv571467
Chromosome Location	chr16:12668632-12672340
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	chr16:12667239..12668915-chr16:12896290..12899009,2	MCF-7	breast:
2	chr16:12664367..12666728-chr16:12670658..12673027,2	K562	blood:

Variant related genes	Relation type
ENSG00000103381	chromatin interactions

Extended variants
information (count: 506 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:506 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11644936	chr16:12668632-12668633	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201967469	chr16:12668653-12668654	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs386789152	chr16:12668654-12668655	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541605313	chr16:12668655-12668656	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374919068	chr16:12668657-12668658	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs35027339	chr16:12668660-12668661	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs564569349	chr16:12668664-12668665	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs201749167	chr16:12668692-12668693	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs386789153	chr16:12668697-12668698	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs199758581	chr16:12668698-12668699	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs77439868	chr16:12668705-12668706	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532285656	chr16:12668721-12668722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs573383199	chr16:12668729-12668730	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs187591536	chr16:12668747-12668748	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs11640384	chr16:12668751-12668752	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs528424868	chr16:12668756-12668757	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs547604131	chr16:12668757-12668758	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs551533955	chr16:12668765-12668766	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs571389788	chr16:12668767-12668768	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs62028748	chr16:12668768-12668769	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs4781266	chr16:12668785-12668786	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs146807945	chr16:12668793-12668794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs368818608	chr16:12668810-12668811	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs140617565	chr16:12668816-12668817	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs370986094	chr16:12668820-12668821	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs555840475	chr16:12668821-12668822	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs566358950	chr16:12668826-12668827	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs535035099	chr16:12668828-12668829	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs558314844	chr16:12668835-12668836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs556604022	chr16:12668837-12668838	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs372605082	chr16:12668838-12668839	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs560529367	chr16:12668848-12668849	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs543627803	chr16:12668849-12668850	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs556589407	chr16:12668855-12668856	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs576387200	chr16:12668856-12668857	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs542204372	chr16:12668858-12668859	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs558952944	chr16:12668874-12668875	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs193295398	chr16:12668877-12668878	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs117072404	chr16:12668878-12668879	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs540516191	chr16:12668882-12668883	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs550805314	chr16:12668889-12668890	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs570155700	chr16:12668896-12668897	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs185504900	chr16:12668905-12668906	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs140853958	chr16:12668910-12668911	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs150156592	chr16:12668917-12668918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138646279	chr16:12668919-12668920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149237719	chr16:12668924-12668925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571909130	chr16:12668933-12668934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368463798	chr16:12668940-12668941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77094406	chr16:12668941-12668942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	17603634	CNVD
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
idiopathic generalized epilepsy	19843651	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Intellectual disability	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	19786961	CNVD
Mental retardation	19786961	CNVD
Schizophrenia	19786961	CNVD
Mental retardation	19951919	CNVD
Autism	18791038	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Malignant germ cell tumour	17285132	CNVD
Autism	17480035	CNVD
Schizophrenia	19955444	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	17847001	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12613000-12670800	Weak transcription	Pancreas	Pancrea
2	chr16:12648400-12668800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr16:12652200-12669200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr16:12652600-12672200	Weak transcription	Right Ventricle	heart
5	chr16:12653200-12669200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr16:12661800-12670400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr16:12662800-12672000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:12663000-12669200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr16:12664000-12670600	Weak transcription	Gastric	stomach
10	chr16:12664200-12669400	Weak transcription	Brain Substantia Nigra	brain
11	chr16:12664600-12668800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr16:12664600-12669200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:12664600-12670600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr16:12665000-12669200	Weak transcription	Aorta	Aorta
15	chr16:12665000-12670600	Weak transcription	Spleen	Spleen
16	chr16:12665200-12669000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr16:12665600-12668800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr16:12667600-12668800	Enhancers	GM12878-XiMat	blood
19	chr16:12667800-12670400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr16:12668000-12670600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr16:12668400-12670200	Weak transcription	Primary B cells from cord blood	blood
22	chr16:12668400-12672400	Weak transcription	Fetal Intestine Small	intestine
23	chr16:12668600-12668800	Enhancers	Esophagus	oesophagus
24	chr16:12668600-12671000	Weak transcription	HepG2	liver
25	chr16:12668600-12672200	Enhancers	Primary B cells from peripheral blood	blood
26	chr16:12668800-12669600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr16:12668800-12670400	Weak transcription	GM12878-XiMat	blood
28	chr16:12669000-12669400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr16:12669200-12669400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr16:12669200-12669400	Enhancers	Brain Cingulate Gyrus	brain
31	chr16:12669200-12669600	ZNF genes & repeats	Aorta	Aorta
32	chr16:12669200-12669600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr16:12669400-12669600	Enhancers	Brain Substantia Nigra	brain
34	chr16:12669400-12673000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr16:12670200-12672000	Enhancers	Primary B cells from cord blood	blood
36	chr16:12670400-12670800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
37	chr16:12670400-12670800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr16:12670400-12670800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr16:12670400-12670800	Enhancers	GM12878-XiMat	blood
40	chr16:12670600-12671000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr16:12670600-12671000	Enhancers	Gastric	stomach
42	chr16:12670600-12671000	Enhancers	Spleen	Spleen
43	chr16:12670800-12671000	ZNF genes & repeats	Pancreas	Pancrea
44	chr16:12670800-12674400	Weak transcription	GM12878-XiMat	blood
45	chr16:12671000-12671200	Enhancers	HepG2	liver
46	chr16:12671000-12671400	Weak transcription	Spleen	Spleen
47	chr16:12671000-12678400	Weak transcription	Gastric	stomach
48	chr16:12671200-12672000	Enhancers	Fetal Brain Male	brain
49	chr16:12671200-12677600	Weak transcription	HepG2	liver
50	chr16:12672000-12672400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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