Variant report

Variant	esv1834726
Chromosome Location	chr11:49215288-49242990
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:69)
CpG islands
(count:366)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:69 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:49230862-49231062	A549	lung:	n/a	chr11:49230953-49230970
2	CEBPB	chr11:49230935-49231032	HepG2	liver:	n/a	chr11:49230953-49230970
3	CTCF	chr11:49228359-49228399	GM10266	blood:	n/a	n/a
4	CTCF	chr11:49230040-49230190	HPF	lung:	n/a	n/a
5	CTCF	chr11:49242760-49242910	HEK293	kidney:	n/a	n/a
6	CTCF	chr11:49215305-49215309	Pancreas_OC	pancreas:	n/a	n/a
7	CTCF	chr11:49242786-49242936	MCF-7	breast:	n/a	n/a
8	CTCF	chr11:49242840-49242990	Caco-2	colon:	n/a	n/a
9	CTCF	chr11:49242820-49242970	MCF-7	breast:	n/a	n/a
10	CTCF	chr11:49223281-49223366	GM13976	blood:	n/a	n/a
11	CTCF	chr11:49242800-49242950	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr11:49242753-49242938	Medullo	brain:	n/a	n/a
13	CTCF	chr11:49215310-49215373	Pancreas_OC	pancreas:	n/a	n/a
14	CTCF	chr11:49242800-49242950	BE2_C	brain:	n/a	n/a
15	CTCF	chr11:49242760-49242910	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr11:49234922-49234939	GM10266	blood:	n/a	n/a
17	CTCF	chr11:49242823-49242873	Pancreas_OC	pancreas:	n/a	n/a
18	CTCF	chr11:49242805-49242908	HepG2	liver:	n/a	n/a
19	CTCF	chr11:49223369-49223379	GM13976	blood:	n/a	n/a
20	CTCF	chr11:49242760-49242910	WERI-Rb-1	eye:	n/a	n/a
21	CTCF	chr11:49229794-49229975	MCF-7	breast:	n/a	n/a
22	CTCF	chr11:49242780-49242930	MCF-7	breast:	n/a	n/a
23	CTCF	chr11:49242780-49242930	NB4	blood:	n/a	n/a
24	CTCF	chr11:49229784-49229927	MCF-7	breast:	n/a	n/a
25	CTCF	chr11:49242760-49242910	HepG2	liver:	n/a	n/a
26	CTCF	chr11:49242802-49242914	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr11:49242800-49242950	RPTEC	kidney:	n/a	n/a
28	CTCF	chr11:49242819-49242905	MCF-7	breast:	n/a	n/a
29	CTCF	chr11:49237173-49237209	GM12891	blood:	n/a	n/a
30	CTCF	chr11:49229682-49229957	MCF-7	breast:	n/a	n/a
31	CTCF	chr11:49242900-49243050	A549	lung:	n/a	n/a
32	FOS	chr11:49219540-49219737	MCF10A-Er-Src	breast:	n/a	n/a
33	FOXA1	chr11:49242736-49242917	HepG2	liver:	n/a	n/a
34	FOXP2	chr11:49229952-49230222	SK-N-MC	brain:	n/a	n/a
35	KAP1	chr11:49229843-49230354	HEK293	kidney:	n/a	n/a
36	MAFK	chr11:49218608-49218717	HepG2	liver:	n/a	chr11:49218673-49218684 chr11:49218673-49218684
37	MAFK	chr11:49221818-49221911	HepG2	liver:	n/a	n/a
38	MAFK	chr11:49221869-49222032	HepG2	liver:	n/a	n/a
39	MAX	chr11:49229723-49230056	ECC-1	luminal epithelium:	n/a	n/a
40	MYC	chr11:49229772-49229785	MCF-7	breast:	n/a	n/a
41	MYC	chr11:49229767-49229818	MCF-7	breast:	n/a	n/a
42	MYC	chr11:49229869-49229953	MCF-7	breast:	n/a	n/a
43	MYC	chr11:49229787-49229794	MCF-7	breast:	n/a	n/a
44	MYC	chr11:49229971-49229981	MCF-7	breast:	n/a	n/a
45	MYC	chr11:49229760-49229769	MCF-7	breast:	n/a	n/a
46	MYC	chr11:49229954-49229958	MCF-7	breast:	n/a	n/a
47	NFIC	chr11:49229995-49230456	ECC-1	luminal epithelium:	n/a	n/a
48	NFIC	chr11:49229986-49230474	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr11:49229681-49229783	MCF-7	breast:	n/a	n/a
50	POLR2A	chr11:49229781-49230243	ECC-1	luminal epithelium:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:49229833-49229883	SKMC	muscle:	n/a
2	chr11:49230548-49230598	H1-hESC	embryonic stem cell:	embryo
3	chr11:49229833-49229883	AoSMC	blood vessel:	n/a
4	chr11:49230036-49230086	PANC-1	pancreas:	n/a
5	chr11:49230168-49230218	HepG2	liver:	n/a
6	chr11:49230036-49230086	HCPEpiC	choroid plexus:	n/a
7	chr11:49226370-49226420	HMEC	breast:	n/a
8	chr11:49229833-49229883	SK-N-SH	brain:	n/a
9	chr11:49229833-49229883	HepG2	liver:	n/a
10	chr11:49230168-49230218	AG09319	gingival:	n/a
11	chr11:49229833-49229883	SK-N-MC	brain:	n/a
12	chr11:49230036-49230086	AG10803	skin:	n/a
13	chr11:49215449-49215499	SK-N-SH	brain:	n/a
14	chr11:49229833-49229883	GM19239	blood:	n/a
15	chr11:49230548-49230598	NH-A	brain:	n/a
16	chr11:49230168-49230218	ECC-1	luminal epithelium:	n/a
17	chr11:49230036-49230086	HCF	heart:	n/a
18	chr11:49230036-49230086	AG09309	skin:	n/a
19	chr11:49230036-49230086	MCF10A-Er-Src	breast:	n/a
20	chr11:49230036-49230086	HepG2	liver:	n/a
21	chr11:49230168-49230218	GM19239	blood:	n/a
22	chr11:49226370-49226420	NB4	blood:	n/a
23	chr11:49230168-49230218	BE2_C	brain:	n/a
24	chr11:49229833-49229883	PANC-1	pancreas:	n/a
25	chr11:49229833-49229883	HCPEpiC	choroid plexus:	n/a
26	chr11:49230548-49230598	ovcar-3	ovarian:	n/a
27	chr11:49230036-49230086	RPTEC	kidney:	n/a
28	chr11:49215449-49215499	AG09309	skin:	n/a
29	chr11:49215449-49215499	HIPEpiC	eye:	n/a
30	chr11:49230168-49230218	HRPEpiC	eye:	n/a
31	chr11:49230036-49230086	Hepatocyte	liver:	n/a
32	chr11:49230168-49230218	HEEpiC	esophagus:	n/a
33	chr11:49230548-49230598	HRE	kidney:	n/a
34	chr11:49230036-49230086	ovcar-3	ovarian:	n/a
35	chr11:49215449-49215499	SK-N-MC	brain:	n/a
36	chr11:49230036-49230086	K562	blood:	n/a
37	chr11:49226370-49226420	HPAEpiC	pulmonary alveolar:	n/a
38	chr11:49229833-49229883	ProgFib	skin:	n/a
39	chr11:49230548-49230598	GM12878	blood:	n/a
40	chr11:49215449-49215499	T-47D	breast:	n/a
41	chr11:49230168-49230218	Hepatocyte	liver:	n/a
42	chr11:49230036-49230086	AoSMC	blood vessel:	n/a
43	chr11:49215449-49215499	SKMC	muscle:	n/a
44	chr11:49230168-49230218	HRCEpiC	kidney:	n/a
45	chr11:49230548-49230598	RPTEC	kidney:	n/a
46	chr11:49230168-49230218	SK-N-SH_RA	brain:	n/a
47	chr11:49215449-49215499	HMEC	breast:	n/a
48	chr11:49226370-49226420	AG09309	skin:	n/a
49	chr11:49230168-49230218	NB4	blood:	n/a
50	chr11:49230548-49230598	K562	blood:	n/a

No data

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

Extended variants
information (count: 1106 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:1106 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6485967	chr11:49215288-49215289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539144994	chr11:49215290-49215291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139896360	chr11:49215293-49215294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556269962	chr11:49215327-49215328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377208200	chr11:49215328-49215329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575937691	chr11:49215349-49215350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370090961	chr11:49215368-49215369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367892619	chr11:49215404-49215405	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536327557	chr11:49215416-49215417	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs202703	chr11:49215431-49215432	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs555194506	chr11:49215475-49215476	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572028986	chr11:49215488-49215489	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146333860	chr11:49215514-49215515	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113466294	chr11:49215539-49215540	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577793912	chr11:49215546-49215547	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs202702	chr11:49215555-49215556	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs207471870	chr11:49215591-49215592	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563041609	chr11:49215598-49215599	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149119867	chr11:49215630-49215631	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs202701	chr11:49215633-49215634	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs10839237	chr11:49215635-49215636	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs113712300	chr11:49215639-49215640	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370987765	chr11:49215658-49215659	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375147010	chr11:49215669-49215670	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs55656827	chr11:49215707-49215708	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113406800	chr11:49215708-49215709	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs56262789	chr11:49215743-49215744	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189889475	chr11:49215759-49215760	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368061549	chr11:49215773-49215774	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570935797	chr11:49215779-49215780	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs56039736	chr11:49215790-49215791	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs34274626	chr11:49215828-49215829	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549569700	chr11:49215844-49215845	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17821682	chr11:49215848-49215849	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs371807836	chr11:49215858-49215859	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112805726	chr11:49215868-49215869	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565368320	chr11:49215890-49215891	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534581517	chr11:49215903-49215904	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558077755	chr11:49215921-49215922	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577754507	chr11:49215931-49215932	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs55948961	chr11:49215957-49215958	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2696949	chr11:49216081-49216082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147591187	chr11:49216090-49216091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367864116	chr11:49216110-49216111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2696950	chr11:49216120-49216121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188358017	chr11:49216156-49216157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542211610	chr11:49216158-49216159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562049047	chr11:49216196-49216197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527715417	chr11:49216254-49216255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192840383	chr11:49216275-49216276	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:211 , 50 per page) page: 1 2 3 4 5

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	chr11:49207000-49229400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:49208800-49221200	Weak transcription	Liver	Liver
5	chr11:49211200-49223200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:49211200-49223200	Weak transcription	Brain Substantia Nigra	brain
7	chr11:49213600-49215400	Weak transcription	Fetal Intestine Small	intestine
8	chr11:49213800-49217200	Weak transcription	Fetal Intestine Large	intestine
9	chr11:49215400-49216000	Genic enhancers	Fetal Intestine Small	intestine
10	chr11:49216000-49217600	Weak transcription	Fetal Intestine Small	intestine
11	chr11:49217200-49217600	Enhancers	Fetal Intestine Large	intestine
12	chr11:49217600-49219600	Enhancers	Fetal Intestine Small	intestine
13	chr11:49217600-49220800	Weak transcription	Fetal Intestine Large	intestine
14	chr11:49219600-49220000	Genic enhancers	Fetal Intestine Small	intestine
15	chr11:49220000-49224000	Weak transcription	Fetal Intestine Small	intestine
16	chr11:49220800-49221200	Enhancers	Fetal Intestine Large	intestine
17	chr11:49221200-49221400	Enhancers	Liver	Liver
18	chr11:49221200-49224000	Weak transcription	Fetal Intestine Large	intestine
19	chr11:49221400-49221800	Weak transcription	Liver	Liver
20	chr11:49221800-49222400	Enhancers	Liver	Liver
21	chr11:49222200-49229400	Weak transcription	Fetal Stomach	stomach
22	chr11:49222400-49223200	Weak transcription	Liver	Liver
23	chr11:49223200-49223400	Enhancers	Brain Substantia Nigra	brain
24	chr11:49223200-49224200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr11:49223200-49224400	Enhancers	Liver	Liver
26	chr11:49223400-49223800	Weak transcription	Brain Substantia Nigra	brain
27	chr11:49223800-49224400	Enhancers	Brain Substantia Nigra	brain
28	chr11:49224000-49224200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr11:49224000-49224400	Enhancers	Brain Anterior Caudate	brain
30	chr11:49224000-49224400	Enhancers	Brain Cingulate Gyrus	brain
31	chr11:49224000-49224600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
32	chr11:49224000-49226200	Enhancers	Brain Hippocampus Middle	brain
33	chr11:49224000-49226200	Strong transcription	Fetal Intestine Large	intestine
34	chr11:49224200-49228200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:49224200-49228200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr11:49224400-49225200	Weak transcription	Liver	Liver
37	chr11:49224400-49228600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr11:49224400-49228600	Weak transcription	Brain Substantia Nigra	brain
39	chr11:49224400-49229400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:49224600-49226800	Strong transcription	Fetal Intestine Small	intestine
41	chr11:49225200-49225600	Enhancers	Brain Angular Gyrus	brain
42	chr11:49225200-49226200	Enhancers	Liver	Liver
43	chr11:49225600-49228400	Weak transcription	Brain Angular Gyrus	brain
44	chr11:49226200-49226400	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr11:49226200-49226400	Enhancers	Fetal Heart	heart
46	chr11:49226200-49227600	Weak transcription	Liver	Liver
47	chr11:49226200-49228000	Weak transcription	Fetal Intestine Large	intestine
48	chr11:49226200-49228400	Weak transcription	Brain Hippocampus Middle	brain
49	chr11:49226400-49230600	Active TSS	Duodenum Mucosa	Duodenum
50	chr11:49226800-49227400	Weak transcription	Fetal Intestine Small	intestine

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