Variant report

Variant	esv3494256
Chromosome Location	chr11:47401524-47403071
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:47402648-47402810	A549	lung:	n/a	n/a
2	POLR2A	chr11:47402081-47402173	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:47402016-47402066	AG04450	lung:	fetal
2	chr11:47402016-47402066	HAEpiC	amniotic membrane:	n/a
3	chr11:47402016-47402066	T-47D	breast:	n/a
4	chr11:47402016-47402066	NHBE	bronchial:	n/a
5	chr11:47402016-47402066	MCF-7	breast:	n/a
6	chr11:47402016-47402066	PANC-1	pancreas:	n/a
7	chr11:47402016-47402066	Caco-2	colon:	n/a
8	chr11:47402016-47402066	BE2_C	brain:	n/a
9	chr11:47402016-47402066	GM19239	blood:	n/a
10	chr11:47402016-47402066	SK-N-SH_RA	brain:	n/a
11	chr11:47402016-47402066	HPAEpiC	pulmonary alveolar:	n/a
12	chr11:47402016-47402066	HCM	heart:	n/a
13	chr11:47402016-47402066	AG09309	skin:	n/a
14	chr11:47402016-47402066	LNCaP	prostate:	n/a
15	chr11:47402016-47402066	Hela-S3	cervix:	n/a
16	chr11:47402016-47402066	HIPEpiC	eye:	n/a
17	chr11:47402016-47402066	HCF	heart:	n/a
18	chr11:47402016-47402066	U87	brain:	n/a
19	chr11:47402016-47402066	NB4	blood:	n/a
20	chr11:47402016-47402066	HUVEC	blood vessel:	n/a
21	chr11:47402016-47402066	A549	lung:	n/a
22	chr11:47402016-47402066	NH-A	brain:	n/a
23	chr11:47402016-47402066	HepG2	liver:	n/a
24	chr11:47402016-47402066	ECC-1	luminal epithelium:	n/a
25	chr11:47402016-47402066	AG09319	gingival:	n/a
26	chr11:47402016-47402066	HNPCEpiC	eye:	n/a
27	chr11:47402016-47402066	PFSK-1	brain:	n/a
28	chr11:47402016-47402066	Hepatocyte	liver:	n/a
29	chr11:47402016-47402066	HCPEpiC	choroid plexus:	n/a
30	chr11:47402016-47402066	HRE	kidney:	n/a
31	chr11:47402016-47402066	PrEC	prostate:	n/a
32	chr11:47402016-47402066	H1-hESC	embryonic stem cell:	embryo
33	chr11:47402016-47402066	GM12891	blood:	n/a
34	chr11:47402016-47402066	HCT-116	colon:	n/a
35	chr11:47402016-47402066	IMR90	lung:	fetal
36	chr11:47402016-47402066	SKMC	muscle:	n/a
37	chr11:47402016-47402066	SK-N-MC	brain:	n/a
38	chr11:47402016-47402066	MCF10A-Er-Src	breast:	n/a
39	chr11:47402016-47402066	AoSMC	blood vessel:	n/a
40	chr11:47402016-47402066	SAEC	small airway:	n/a
41	chr11:47402016-47402066	ovcar-3	ovarian:	n/a
42	chr11:47402016-47402066	GM06990	blood:	n/a
43	chr11:47402016-47402066	ProgFib	skin:	n/a
44	chr11:47402016-47402066	SK-N-SH	brain:	n/a
45	chr11:47402016-47402066	K562	blood:	n/a
46	chr11:47402016-47402066	RPTEC	kidney:	n/a
47	chr11:47402016-47402066	HEK293	kidney:	embryo
48	chr11:47402016-47402066	AG10803	skin:	n/a
49	chr11:47402016-47402066	Jurkat	blood:	n/a
50	chr11:47402016-47402066	NT2-D1	testis:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47400529..47402179-chr11:47427161..47429791,2	MCF-7	breast:
2	chr11:47399997..47402556-chr8:126443816..126446707,2	MCF-7	breast:
3	chr11:47391440..47404809-chr11:47427075..47436409,23	K562	blood:
4	chr11:47402278..47404075-chr11:47428912..47430787,2	MCF-7	breast:
5	chr11:47400738..47402278-chr11:47408307..47410990,2	MCF-7	breast:
6	chr11:47400131..47402578-chr11:47411947..47414997,4	K562	blood:
7	chr11:47395359..47404298-chr11:47408556..47417905,22	K562	blood:
8	chr11:47394067..47402014-chr11:47426765..47432976,19	K562	blood:
9	chr11:47397757..47399596-chr11:47400915..47402681,3	MCF-7	breast:

No data

Variant related genes	Relation type
SPI1	TF binding region
SPI1	CpG island
ENSG00000165915	chromatin interactions
ENSG00000255197	chromatin interactions
ENSG00000173334	chromatin interactions

Extended variants
information (count: 44 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548165337	chr11:47401524-47401525	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs182435333	chr11:47401613-47401614	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs527368024	chr11:47401646-47401647	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs35475058	chr11:47401693-47401694	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs117465067	chr11:47401701-47401702	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs539431477	chr11:47401750-47401751	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs570681353	chr11:47401775-47401776	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs369191434	chr11:47401824-47401825	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs556494973	chr11:47401875-47401876	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs73453756	chr11:47401892-47401893	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs542267778	chr11:47401918-47401919	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs371110973	chr11:47401948-47401949	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs570317230	chr11:47401955-47401956	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs34946982	chr11:47402022-47402023	Weak transcription Enhancers Flanking Active TSS	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs144404855	chr11:47402035-47402036	Weak transcription Enhancers Flanking Active TSS	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs189154998	chr11:47402044-47402045	Weak transcription Enhancers Flanking Active TSS	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs80016519	chr11:47402099-47402100	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs144499177	chr11:47402107-47402108	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs111541668	chr11:47402112-47402113	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs67059042	chr11:47402113-47402114	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs183262612	chr11:47402136-47402137	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs61606560	chr11:47402138-47402139	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs187763315	chr11:47402139-47402140	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs192385988	chr11:47402142-47402143	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs200016535	chr11:47402144-47402145	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs572590174	chr11:47402354-47402355	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs148792562	chr11:47402403-47402404	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs77947684	chr11:47402460-47402461	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs111686486	chr11:47402503-47402504	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs540642189	chr11:47402541-47402542	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs11827106	chr11:47402615-47402616	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs576923192	chr11:47402625-47402626	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs560461440	chr11:47402670-47402671	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs532161028	chr11:47402671-47402672	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs78717952	chr11:47402688-47402689	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs545502329	chr11:47402819-47402820	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs578234457	chr11:47402976-47402977	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs562687040	chr11:47402991-47402992	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs367793292	chr11:47403039-47403040	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs192459825	chr11:47403055-47403056	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
41	rs60843633	chr11:47403058-47403059	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs58179556	chr11:47403059-47403060	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs71452742	chr11:47403060-47403061	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs10769260	chr11:47403061-47403062	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
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
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47395200-47410000	Weak transcription	Gastric	stomach
2	chr11:47399400-47404200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:47399400-47421400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:47399800-47404200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:47399800-47405000	Weak transcription	Right Atrium	heart
6	chr11:47399800-47405800	Weak transcription	Brain Angular Gyrus	brain
7	chr11:47399800-47421200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:47400000-47404000	Weak transcription	Lung	lung
9	chr11:47400000-47404200	Weak transcription	Adipose Nuclei	Adipose
10	chr11:47400000-47410000	Weak transcription	Brain Hippocampus Middle	brain
11	chr11:47400000-47415200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr11:47400000-47416000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:47400000-47416800	Weak transcription	Brain Anterior Caudate	brain
14	chr11:47400000-47421200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:47400600-47403400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:47400600-47404000	Weak transcription	Spleen	Spleen
17	chr11:47400600-47404200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:47400600-47409800	Weak transcription	Fetal Muscle Leg	muscle
19	chr11:47400800-47404200	Weak transcription	Fetal Thymus	thymus
20	chr11:47401000-47402000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr11:47401000-47403200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr11:47401200-47402200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr11:47401200-47403400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:47401200-47404400	Weak transcription	Primary B cells from cord blood	blood
25	chr11:47401400-47403600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:47401400-47404000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:47401400-47404200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr11:47401400-47404200	Weak transcription	K562	blood
29	chr11:47402000-47402200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr11:47402200-47402600	Genic enhancers	Monocytes-CD14+_RO01746	blood
31	chr11:47402200-47402800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr11:47402400-47402600	Enhancers	Esophagus	oesophagus
33	chr11:47402600-47403800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr11:47402600-47409400	Weak transcription	Esophagus	oesophagus
35	chr11:47402800-47403200	Weak transcription	Primary monocytes fromperipheralblood	blood

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