Variant report

Variant	esv3381502
Chromosome Location	chr11:49208676-49213874
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	CTCF	chr11:49210584-49210639	GM13976	blood:	n/a	n/a
2	MYC	chr11:49211098-49211298	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr11:49208581-49208692	GM12878	blood:	n/a	n/a
4	MYC	chr11:49209332-49209410	MCF-7	breast:	n/a	n/a
5	POLR2A	chr11:49211931-49212130	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr11:49211915-49211943	MCF-7	breast:	n/a	n/a
7	POLR2A	chr11:49212650-49212691	MCF-7	breast:	n/a	n/a
8	POLR2A	chr11:49209884-49209915	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
FOLH1	TF binding region

Extended variants
information (count: 189 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138764687	chr11:49208717-49208718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556124057	chr11:49208730-49208731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573815284	chr11:49208741-49208742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541938303	chr11:49208747-49208748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117195128	chr11:49208749-49208750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527678230	chr11:49208771-49208772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547815873	chr11:49208777-49208778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564740543	chr11:49208797-49208798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533683083	chr11:49208821-49208822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2974883	chr11:49208842-49208843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570127086	chr11:49208844-49208845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536091036	chr11:49208848-49208849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548792084	chr11:49208854-49208855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs3872578	chr11:49208862-49208863	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs202690	chr11:49208868-49208869	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs557356604	chr11:49208892-49208893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577482320	chr11:49208906-49208907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149894	chr11:49208935-49208936	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557252158	chr11:49208947-49208948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538108212	chr11:49208958-49208959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182304404	chr11:49208999-49209000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs397835147	chr11:49209020-49209021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185733596	chr11:49209027-49209028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs202708	chr11:49209063-49209064	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs10610895	chr11:49209095-49209096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs398115370	chr11:49209097-49209098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77235861	chr11:49209103-49209104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572594163	chr11:49209110-49209111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2860665	chr11:49209113-49209114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs397834829	chr11:49209128-49209129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533362369	chr11:49209182-49209183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541401996	chr11:49209199-49209200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2130018	chr11:49209209-49209210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551330321	chr11:49209211-49209212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2950760	chr11:49209221-49209222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149247047	chr11:49209265-49209266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73473159	chr11:49209297-49209298	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs144383798	chr11:49209338-49209339	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs564048657	chr11:49209375-49209376	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs372955931	chr11:49209488-49209489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114713907	chr11:49209571-49209572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147940083	chr11:49209603-49209604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528189732	chr11:49209670-49209671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370405330	chr11:49209685-49209686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551096766	chr11:49209695-49209696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542454307	chr11:49209697-49209698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2696941	chr11:49209704-49209705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202707	chr11:49209722-49209723	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs80083111	chr11:49209728-49209729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537096948	chr11:49209751-49209752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49202600-49229400	Weak transcription	Fetal Lung	lung
2	chr11:49204600-49226200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:49205400-49208800	Enhancers	Liver	Liver
4	chr11:49206600-49209600	Enhancers	Brain Hippocampus Middle	brain
5	chr11:49206600-49210800	Weak transcription	Brain Anterior Caudate	brain
6	chr11:49206600-49212600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:49206600-49212800	Weak transcription	Brain Angular Gyrus	brain
8	chr11:49207000-49229400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr11:49208400-49209600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr11:49208400-49209600	Enhancers	Brain Substantia Nigra	brain
11	chr11:49208400-49212600	Weak transcription	Fetal Intestine Small	intestine
12	chr11:49208600-49212600	Weak transcription	Fetal Intestine Large	intestine
13	chr11:49208800-49221200	Weak transcription	Liver	Liver
14	chr11:49209600-49210400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:49209600-49210600	Weak transcription	Brain Hippocampus Middle	brain
16	chr11:49209600-49210600	Weak transcription	Brain Substantia Nigra	brain
17	chr11:49210400-49211200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr11:49210600-49211200	Enhancers	Brain Hippocampus Middle	brain
19	chr11:49210600-49211200	Enhancers	Brain Substantia Nigra	brain
20	chr11:49210800-49211400	Enhancers	Brain Anterior Caudate	brain
21	chr11:49211000-49211200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:49211200-49211800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:49211200-49212800	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:49211200-49223200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:49211200-49223200	Weak transcription	Brain Substantia Nigra	brain
26	chr11:49211400-49212600	Weak transcription	Brain Anterior Caudate	brain
27	chr11:49211800-49213000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:49212000-49212200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr11:49212000-49212400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:49212600-49212800	Enhancers	Brain Anterior Caudate	brain
31	chr11:49212600-49212800	Enhancers	Brain Cingulate Gyrus	brain
32	chr11:49212600-49213600	Strong transcription	Fetal Intestine Small	intestine
33	chr11:49212600-49213800	Strong transcription	Fetal Intestine Large	intestine
34	chr11:49212800-49213000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr11:49212800-49213000	Enhancers	Brain Angular Gyrus	brain
36	chr11:49212800-49213400	Enhancers	Brain Hippocampus Middle	brain
37	chr11:49213600-49215400	Weak transcription	Fetal Intestine Small	intestine
38	chr11:49213800-49217200	Weak transcription	Fetal Intestine Large	intestine

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