Variant report

Variant	nsv975176
Chromosome Location	chr11:49172737-49186292
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:49176297-49176560	IMR90	lung:	n/a	chr11:49176450-49176463 chr11:49176420-49176429 chr11:49176418-49176429 chr11:49176450-49176461 chr11:49176420-49176431
2	CEBPB	chr11:49176276-49176584	HepG2	liver:	n/a	chr11:49176450-49176463 chr11:49176420-49176429 chr11:49176418-49176429 chr11:49176450-49176461 chr11:49176420-49176431
3	CEBPB	chr11:49176304-49176533	A549	lung:	n/a	chr11:49176450-49176463 chr11:49176420-49176429 chr11:49176418-49176429 chr11:49176450-49176461 chr11:49176420-49176431
4	CTCF	chr11:49180814-49180881	Kidney_OC	kidney:	n/a	n/a
5	MAFK	chr11:49185264-49185440	HepG2	liver:	n/a	chr11:49185396-49185411
6	MAFK	chr11:49185398-49185538	HepG2	liver:	n/a	n/a
7	MYC	chr11:49185489-49185520	GM12878	blood:	n/a	n/a
8	MYC	chr11:49185451-49185483	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:49184709-49184798	A549	lung:	n/a	n/a
10	POLR2A	chr11:49184679-49184706	A549	lung:	n/a	n/a
11	POLR2A	chr11:49175352-49175542	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr11:49184652-49184673	A549	lung:	n/a	n/a
13	POLR2A	chr11:49172936-49172973	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
FOLH1	TF binding region

Extended variants
information (count: 513 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:513 , 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	rs61886479	chr11:49172787-49172788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535435746	chr11:49172828-49172829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555119001	chr11:49172829-49172830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377705739	chr11:49172849-49172850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565945055	chr11:49172887-49172888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140063272	chr11:49172926-49172927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35833041	chr11:49172927-49172928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75934492	chr11:49172928-49172929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78102297	chr11:49172941-49172942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11827889	chr11:49172942-49172943	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs370045363	chr11:49172949-49172950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556228032	chr11:49172952-49172953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79569703	chr11:49172953-49172954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541798092	chr11:49172954-49172955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144482049	chr11:49172957-49172958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61886480	chr11:49172959-49172960	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs117445035	chr11:49172960-49172961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556418726	chr11:49172966-49172967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368725485	chr11:49172981-49172982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs58768462	chr11:49172982-49172983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533576984	chr11:49172983-49172984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145727243	chr11:49172985-49172986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543684413	chr11:49173153-49173154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367902787	chr11:49173192-49173193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550438577	chr11:49173196-49173197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187497818	chr11:49173200-49173201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs578053023	chr11:49173219-49173220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563372151	chr11:49173228-49173229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10742932	chr11:49173234-49173235	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs548950991	chr11:49173284-49173285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192122505	chr11:49173317-49173318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs617528	chr11:49173331-49173332	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs551392634	chr11:49173356-49173357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571246779	chr11:49173372-49173373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555689582	chr11:49173400-49173401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536841974	chr11:49173413-49173414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183062458	chr11:49173415-49173416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556764299	chr11:49173428-49173429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188862409	chr11:49173437-49173438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35760252	chr11:49173447-49173448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192585791	chr11:49173521-49173522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555704232	chr11:49173599-49173600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184485223	chr11:49173600-49173601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541670527	chr11:49173626-49173627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189752893	chr11:49173657-49173658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578261879	chr11:49173746-49173747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191945806	chr11:49173879-49173880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111848490	chr11:49173895-49173896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563908764	chr11:49173938-49173939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528966083	chr11:49173948-49173949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
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
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	17426248	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49164600-49184200	Weak transcription	Fetal Intestine Small	intestine
2	chr11:49166000-49184200	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:49169600-49174400	Weak transcription	Liver	Liver
4	chr11:49169600-49175800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr11:49171400-49197600	Weak transcription	Brain Substantia Nigra	brain
6	chr11:49171600-49190800	Weak transcription	Small Intestine	intestine
7	chr11:49172600-49173200	Strong transcription	Fetal Lung	lung
8	chr11:49172600-49173400	Strong transcription	Fetal Intestine Large	intestine
9	chr11:49173200-49184000	Weak transcription	Fetal Lung	lung
10	chr11:49173400-49177200	Weak transcription	Fetal Intestine Large	intestine
11	chr11:49174400-49176400	Strong transcription	Liver	Liver
12	chr11:49175800-49176600	Strong transcription	Duodenum Mucosa	Duodenum
13	chr11:49176200-49186800	Weak transcription	Ovary	ovary
14	chr11:49176400-49183200	Weak transcription	Liver	Liver
15	chr11:49176600-49183800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:49177200-49177800	Strong transcription	Fetal Intestine Large	intestine
17	chr11:49177800-49183400	Weak transcription	Fetal Intestine Large	intestine
18	chr11:49182400-49184400	Weak transcription	Fetal Stomach	stomach
19	chr11:49182800-49185200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:49183200-49186200	Strong transcription	Liver	Liver
21	chr11:49183400-49190000	Strong transcription	Fetal Intestine Large	intestine
22	chr11:49183800-49185600	Weak transcription	Brain Anterior Caudate	brain
23	chr11:49183800-49186800	Strong transcription	Duodenum Mucosa	Duodenum
24	chr11:49184000-49185600	Strong transcription	Fetal Lung	lung
25	chr11:49184200-49184600	Strong transcription	Fetal Intestine Small	intestine
26	chr11:49184200-49185600	Strong transcription	Brain Hippocampus Middle	brain
27	chr11:49184200-49193400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:49184400-49185600	Strong transcription	Fetal Stomach	stomach
29	chr11:49184400-49186800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:49184600-49185600	ZNF genes & repeats	Fetal Intestine Small	intestine
31	chr11:49184800-49208400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr11:49185200-49185600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
33	chr11:49185200-49185600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:49185600-49188200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:49185600-49189000	Weak transcription	Fetal Intestine Small	intestine
36	chr11:49185600-49190600	Weak transcription	Fetal Stomach	stomach
37	chr11:49185600-49194000	Weak transcription	Brain Hippocampus Middle	brain
38	chr11:49185600-49201800	Weak transcription	Fetal Lung	lung
39	chr11:49186200-49195600	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links