Variant report

Variant	nsv972015
Chromosome Location	chr11:49187522-49240719
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	chr11:49230935-49231032	HepG2	liver:	n/a	chr11:49230953-49230970
2	CEBPB	chr11:49230862-49231062	A549	lung:	n/a	chr11:49230953-49230970
3	CTCF	chr11:49215310-49215373	Pancreas_OC	pancreas:	n/a	n/a
4	CTCF	chr11:49206510-49206568	GM20000	blood:	n/a	n/a
5	CTCF	chr11:49230040-49230190	HPF	lung:	n/a	n/a
6	CTCF	chr11:49191215-49191372	A549	lung:	n/a	chr11:49191312-49191333 chr11:49191317-49191335
7	CTCF	chr11:49191243-49191392	GM12878	blood:	n/a	chr11:49191312-49191333 chr11:49191317-49191335
8	CTCF	chr11:49191287-49191372	Kidney_OC	kidney:	n/a	chr11:49191312-49191333 chr11:49191317-49191335
9	CTCF	chr11:49191253-49191391	Gliobla	brain:	n/a	chr11:49191312-49191333 chr11:49191317-49191335
10	CTCF	chr11:49206519-49206639	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr11:49191240-49191390	Hela-S3	cervix:	n/a	chr11:49191312-49191333 chr11:49191317-49191335
12	CTCF	chr11:49191220-49191370	HMF	breast:	n/a	chr11:49191312-49191333 chr11:49191317-49191335
13	CTCF	chr11:49191275-49191366	GM13976	blood:	n/a	chr11:49191312-49191333 chr11:49191317-49191335
14	CTCF	chr11:49191220-49191370	GM12865	blood:	n/a	chr11:49191312-49191333 chr11:49191317-49191335
15	CTCF	chr11:49191076-49191514	SK-N-SH	brain:	n/a	chr11:49191312-49191333 chr11:49191317-49191335
16	CTCF	chr11:49191228-49191371	HepG2	liver:	n/a	chr11:49191312-49191333 chr11:49191317-49191335
17	CTCF	chr11:49206500-49206650	NHEK	skin:	n/a	n/a
18	CTCF	chr11:49198830-49198853	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr11:49229682-49229957	MCF-7	breast:	n/a	n/a
20	CTCF	chr11:49191254-49191391	Pancreas_OC	pancreas:	n/a	chr11:49191312-49191333 chr11:49191317-49191335
21	CTCF	chr11:49223281-49223366	GM13976	blood:	n/a	n/a
22	CTCF	chr11:49191340-49191490	RPTEC	kidney:	n/a	n/a
23	CTCF	chr11:49191218-49191392	HepG2	liver:	n/a	chr11:49191312-49191333 chr11:49191317-49191335
24	CTCF	chr11:49229794-49229975	MCF-7	breast:	n/a	n/a
25	CTCF	chr11:49191160-49191310	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr11:49234922-49234939	GM10266	blood:	n/a	n/a
27	CTCF	chr11:49203554-49203596	GM20000	blood:	n/a	n/a
28	CTCF	chr11:49191332-49191352	GM10248	blood:	n/a	n/a
29	CTCF	chr11:49229784-49229927	MCF-7	breast:	n/a	n/a
30	CTCF	chr11:49210584-49210639	GM13976	blood:	n/a	n/a
31	CTCF	chr11:49191552-49191558	Medullo	brain:	n/a	n/a
32	CTCF	chr11:49191280-49191385	GM13977	blood:	n/a	chr11:49191312-49191333 chr11:49191317-49191335
33	CTCF	chr11:49191239-49191444	K562	blood:	n/a	chr11:49191312-49191333 chr11:49191317-49191335
34	CTCF	chr11:49191269-49191339	MCF-7	breast:	n/a	chr11:49191312-49191333 chr11:49191317-49191335
35	CTCF	chr11:49191160-49191310	GM12873	blood:	n/a	n/a
36	CTCF	chr11:49191380-49191530	A549	lung:	n/a	n/a
37	CTCF	chr11:49191260-49191410	HepG2	liver:	n/a	chr11:49191312-49191333 chr11:49191317-49191335
38	CTCF	chr11:49198544-49198577	A549	lung:	n/a	n/a
39	CTCF	chr11:49191300-49191355	LNCaP	prostate:	n/a	chr11:49191312-49191333 chr11:49191317-49191335
40	CTCF	chr11:49191212-49191405	Hela-S3	cervix:	n/a	chr11:49191312-49191333 chr11:49191317-49191335
41	CTCF	chr11:49191199-49191548	Medullo	brain:	n/a	chr11:49191312-49191333 chr11:49191317-49191335
42	CTCF	chr11:49191226-49191391	MCF-7	breast:	n/a	chr11:49191312-49191333 chr11:49191317-49191335
43	CTCF	chr11:49191160-49191310	RPTEC	kidney:	n/a	n/a
44	CTCF	chr11:49191140-49191290	RPTEC	kidney:	n/a	n/a
45	CTCF	chr11:49228359-49228399	GM10266	blood:	n/a	n/a
46	CTCF	chr11:49191283-49191366	GM10266	blood:	n/a	chr11:49191312-49191333 chr11:49191317-49191335
47	CTCF	chr11:49191217-49191404	HUVEC	blood vessel:	n/a	chr11:49191312-49191333 chr11:49191317-49191335
48	CTCF	chr11:49191246-49191368	K562	blood:	n/a	chr11:49191312-49191333 chr11:49191317-49191335
49	CTCF	chr11:49198549-49198577	MCF-7	breast:	n/a	n/a
50	CTCF	chr11:49191278-49191283	Kidney_OC	kidney:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:49230548-49230598	HCM	heart:	n/a
2	chr11:49230548-49230598	HCM	heart:	n/a
3	chr11:49230168-49230218	GM12878	blood:	n/a
4	chr11:49230548-49230598	PrEC	prostate:	n/a
5	chr11:49215449-49215499	HMEC	breast:	n/a
6	chr11:49230548-49230598	GM06990	blood:	n/a
7	chr11:49215449-49215499	ovcar-3	ovarian:	n/a
8	chr11:49215449-49215499	GM19239	blood:	n/a
9	chr11:49226370-49226420	HL-60	blood:	n/a
10	chr11:49226370-49226420	HPAEpiC	pulmonary alveolar:	n/a
11	chr11:49229833-49229883	T-47D	breast:	n/a
12	chr11:49230036-49230086	HAEpiC	amniotic membrane:	n/a
13	chr11:49230168-49230218	AoSMC	blood vessel:	n/a
14	chr11:49229833-49229883	NHDF-neo	bronchial:	n/a
15	chr11:49230036-49230086	AG10803	skin:	n/a
16	chr11:49230168-49230218	SK-N-SH_RA	brain:	n/a
17	chr11:49226370-49226420	NB4	blood:	n/a
18	chr11:49215449-49215499	GM12891	blood:	n/a
19	chr11:49230168-49230218	HepG2	liver:	n/a
20	chr11:49226370-49226420	GM12878	blood:	n/a
21	chr11:49229833-49229883	ovcar-3	ovarian:	n/a
22	chr11:49230548-49230598	SK-N-SH	brain:	n/a
23	chr11:49215449-49215499	SK-N-SH_RA	brain:	n/a
24	chr11:49230168-49230218	NHBE	bronchial:	n/a
25	chr11:49215449-49215499	NH-A	brain:	n/a
26	chr11:49230036-49230086	GM19239	blood:	n/a
27	chr11:49230548-49230598	AoSMC	blood vessel:	n/a
28	chr11:49229833-49229883	GM12878	blood:	n/a
29	chr11:49226370-49226420	ovcar-3	ovarian:	n/a
30	chr11:49229833-49229883	SKMC	muscle:	n/a
31	chr11:49229833-49229883	SK-N-SH_RA	brain:	n/a
32	chr11:49226370-49226420	HMEC	breast:	n/a
33	chr11:49229833-49229883	Jurkat	blood:	n/a
34	chr11:49230548-49230598	AG10803	skin:	n/a
35	chr11:49215449-49215499	HCT-116	colon:	n/a
36	chr11:49229833-49229883	AG09309	skin:	n/a
37	chr11:49230168-49230218	HIPEpiC	eye:	n/a
38	chr11:49230036-49230086	HRCEpiC	kidney:	n/a
39	chr11:49226370-49226420	HRE	kidney:	n/a
40	chr11:49215449-49215499	AG10803	skin:	n/a
41	chr11:49230548-49230598	MCF-7	breast:	n/a
42	chr11:49230036-49230086	K562	blood:	n/a
43	chr11:49229833-49229883	HL-60	blood:	n/a
44	chr11:49229833-49229883	HUVEC	blood vessel:	n/a
45	chr11:49230168-49230218	AG04450	lung:	fetal
46	chr11:49230168-49230218	HRPEpiC	eye:	n/a
47	chr11:49215449-49215499	HL-60	blood:	n/a
48	chr11:49229833-49229883	HPAEpiC	pulmonary alveolar:	n/a
49	chr11:49230168-49230218	AG09319	gingival:	n/a
50	chr11:49215449-49215499	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:48478071..48478587-chr11:49191267..49191777,2	MCF-7	breast:
2	chr11:48194206..48195039-chr11:49190936..49191807,2	MCF-7	breast:

Variant related genes	Relation type
FOLH1	TF binding region
FOLH1	CpG island

Extended variants
information (count: 2197 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:2197 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186279136	chr11:49187572-49187573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569843436	chr11:49187583-49187584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191533511	chr11:49187607-49187608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548718552	chr11:49187621-49187622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114473055	chr11:49187665-49187666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182876751	chr11:49187702-49187703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75944810	chr11:49187774-49187775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs56279055	chr11:49187844-49187845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570974781	chr11:49187854-49187855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539441906	chr11:49187927-49187928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187508506	chr11:49187928-49187929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371339836	chr11:49187997-49187998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200128615	chr11:49188002-49188003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143474817	chr11:49188047-49188048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374472173	chr11:49188055-49188056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542533046	chr11:49188065-49188066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72906394	chr11:49188075-49188076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555963251	chr11:49188097-49188098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572663148	chr11:49188158-49188159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202672	chr11:49188181-49188182	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs55956951	chr11:49188186-49188187	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs540131226	chr11:49188203-49188204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533086629	chr11:49188204-49188205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560444668	chr11:49188225-49188226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143409791	chr11:49188231-49188232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563298182	chr11:49188247-49188248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2299649	chr11:49188253-49188254	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs2950754	chr11:49188262-49188263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2299648	chr11:49188297-49188298	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs369736887	chr11:49188301-49188302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570330655	chr11:49188332-49188333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528247658	chr11:49188346-49188347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2950755	chr11:49188368-49188369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144133183	chr11:49188396-49188397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532886565	chr11:49188431-49188432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192129929	chr11:49188470-49188471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539928215	chr11:49188487-49188488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397834207	chr11:49188513-49188514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149827261	chr11:49188527-49188528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548340187	chr11:49188556-49188557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570047659	chr11:49188577-49188578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74395783	chr11:49188598-49188599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76160864	chr11:49188599-49188600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200648061	chr11:49188600-49188601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201197942	chr11:49188601-49188602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572821926	chr11:49188604-49188605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs398055237	chr11:49188605-49188606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs397816764	chr11:49188644-49188645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397698551	chr11:49188645-49188646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183078438	chr11:49188659-49188660	Weak transcription Strong 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:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49171400-49197600	Weak transcription	Brain Substantia Nigra	brain
2	chr11:49171600-49190800	Weak transcription	Small Intestine	intestine
3	chr11:49183400-49190000	Strong transcription	Fetal Intestine Large	intestine
4	chr11:49184200-49193400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:49184800-49208400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:49185600-49188200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:49185600-49189000	Weak transcription	Fetal Intestine Small	intestine
8	chr11:49185600-49190600	Weak transcription	Fetal Stomach	stomach
9	chr11:49185600-49194000	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:49185600-49201800	Weak transcription	Fetal Lung	lung
11	chr11:49186200-49195600	Weak transcription	Liver	Liver
12	chr11:49186800-49204200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr11:49189000-49189400	Strong transcription	Fetal Intestine Small	intestine
14	chr11:49189400-49195000	Weak transcription	Fetal Intestine Small	intestine
15	chr11:49190000-49193200	Weak transcription	Fetal Intestine Large	intestine
16	chr11:49193200-49193600	Genic enhancers	Fetal Intestine Large	intestine
17	chr11:49193400-49193800	Enhancers	Brain Cingulate Gyrus	brain
18	chr11:49193400-49194000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr11:49193600-49195400	Weak transcription	Fetal Intestine Large	intestine
20	chr11:49194000-49194600	Enhancers	Brain Hippocampus Middle	brain
21	chr11:49194600-49205200	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:49195000-49195600	Enhancers	Fetal Intestine Small	intestine
23	chr11:49195400-49196000	Strong transcription	Fetal Intestine Large	intestine
24	chr11:49195600-49196200	Enhancers	Liver	Liver
25	chr11:49195600-49196600	Weak transcription	Fetal Intestine Small	intestine
26	chr11:49196000-49196400	Genic enhancers	Fetal Intestine Large	intestine
27	chr11:49196200-49196800	Flanking Active TSS	Liver	Liver
28	chr11:49196400-49197800	Enhancers	Fetal Intestine Large	intestine
29	chr11:49196600-49197000	Enhancers	Fetal Intestine Small	intestine
30	chr11:49196800-49199000	Enhancers	Liver	Liver
31	chr11:49197000-49206400	Weak transcription	Fetal Intestine Small	intestine
32	chr11:49197600-49197800	Enhancers	Brain Substantia Nigra	brain
33	chr11:49197800-49199200	Weak transcription	Fetal Intestine Large	intestine
34	chr11:49197800-49208400	Weak transcription	Brain Substantia Nigra	brain
35	chr11:49198400-49198800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:49198400-49200000	Enhancers	NHEK	skin
37	chr11:49199000-49199400	Weak transcription	Liver	Liver
38	chr11:49199200-49199800	ZNF genes & repeats	Fetal Intestine Large	intestine
39	chr11:49199400-49199800	Enhancers	Liver	Liver
40	chr11:49199800-49200200	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr11:49199800-49201200	Weak transcription	Liver	Liver
42	chr11:49199800-49204000	Weak transcription	Fetal Intestine Large	intestine
43	chr11:49201200-49202400	Enhancers	Liver	Liver
44	chr11:49201800-49202000	Enhancers	Fetal Lung	lung
45	chr11:49202000-49202400	Weak transcription	Fetal Lung	lung
46	chr11:49202400-49202600	Flanking Active TSS	Liver	Liver
47	chr11:49202400-49202600	Enhancers	Fetal Lung	lung
48	chr11:49202600-49202800	Active TSS	Liver	Liver
49	chr11:49202600-49229400	Weak transcription	Fetal Lung	lung
50	chr11:49202800-49205400	Weak transcription	Liver	Liver

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