Variant report

Variant	esv3378265
Chromosome Location	chr11:57521201-57523749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:57522760-57522910	HEK293	kidney:	n/a	n/a
2	FOXA2	chr11:57523726-57524023	A549	lung:	n/a	n/a
3	POLR2A	chr11:57523693-57523776	HUVEC	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:57523403-57523453	SK-N-MC	brain:	n/a
2	chr11:57523403-57523453	PFSK-1	brain:	n/a
3	chr11:57523403-57523453	U87	brain:	n/a
4	chr11:57523403-57523453	PrEC	prostate:	n/a
5	chr11:57523403-57523453	HRPEpiC	eye:	n/a
6	chr11:57523403-57523453	HUVEC	blood vessel:	n/a
7	chr11:57523403-57523453	SK-N-SH_RA	brain:	n/a
8	chr11:57523403-57523453	RPTEC	kidney:	n/a
9	chr11:57523403-57523453	SAEC	small airway:	n/a
10	chr11:57523403-57523453	GM12878	blood:	n/a
11	chr11:57523403-57523453	T-47D	breast:	n/a
12	chr11:57523403-57523453	AG09319	gingival:	n/a
13	chr11:57523403-57523453	Jurkat	blood:	n/a
14	chr11:57523403-57523453	HAEpiC	amniotic membrane:	n/a
15	chr11:57523403-57523453	HepG2	liver:	n/a
16	chr11:57523403-57523453	BE2_C	brain:	n/a
17	chr11:57523403-57523453	AoSMC	blood vessel:	n/a
18	chr11:57523403-57523453	AG04449	skin:	fetal
19	chr11:57523403-57523453	Caco-2	colon:	n/a
20	chr11:57523403-57523453	NHDF-neo	bronchial:	n/a
21	chr11:57523403-57523453	BJ	skin:	n/a
22	chr11:57523403-57523453	HRE	kidney:	n/a
23	chr11:57523403-57523453	MCF10A-Er-Src	breast:	n/a
24	chr11:57523403-57523453	HIPEpiC	eye:	n/a
25	chr11:57523403-57523453	AG10803	skin:	n/a
26	chr11:57523403-57523453	PANC-1	pancreas:	n/a
27	chr11:57523403-57523453	SKMC	muscle:	n/a
28	chr11:57523403-57523453	NT2-D1	testis:	n/a
29	chr11:57523403-57523453	K562	blood:	n/a
30	chr11:57523403-57523453	HCF	heart:	n/a
31	chr11:57523403-57523453	CMK	blood:	n/a
32	chr11:57523403-57523453	HCT-116	colon:	n/a
33	chr11:57523403-57523453	Hela-S3	cervix:	n/a
34	chr11:57523403-57523453	AG04450	lung:	fetal
35	chr11:57523403-57523453	HMEC	breast:	n/a
36	chr11:57523403-57523453	HNPCEpiC	eye:	n/a
37	chr11:57523403-57523453	NH-A	brain:	n/a
38	chr11:57523403-57523453	HEEpiC	esophagus:	n/a
39	chr11:57523403-57523453	H1-hESC	embryonic stem cell:	embryo
40	chr11:57523403-57523453	HCPEpiC	choroid plexus:	n/a
41	chr11:57523403-57523453	HPAEpiC	pulmonary alveolar:	n/a
42	chr11:57523403-57523453	SK-N-SH	brain:	n/a
43	chr11:57523403-57523453	HCM	heart:	n/a
44	chr11:57523403-57523453	NB4	blood:	n/a
45	chr11:57523403-57523453	ECC-1	luminal epithelium:	n/a
46	chr11:57523403-57523453	HEK293	kidney:	embryo
47	chr11:57523403-57523453	MCF-7	breast:	n/a
48	chr11:57523403-57523453	HL-60	blood:	n/a
49	chr11:57523403-57523453	Hepatocyte	liver:	n/a
50	chr11:57523403-57523453	ProgFib	skin:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57514253..57516697-chr11:57521037..57524860,3	K562	blood:
2	chr11:57523648..57525341-chr11:57548936..57550794,2	MCF-7	breast:
3	chr11:57522258..57527060-chr11:57527676..57532320,5	MCF-7	breast:

No data

Variant related genes	Relation type
BTBD18	TF binding region
BTBD18	CpG island
ENSG00000198561	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549720247	chr11:57521205-57521206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs486995	chr11:57521228-57521229	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs188345387	chr11:57521235-57521236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554366600	chr11:57521254-57521255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566120854	chr11:57521311-57521312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs367716298	chr11:57521350-57521351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569534157	chr11:57521380-57521381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372863969	chr11:57521392-57521393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536988846	chr11:57521397-57521398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113898290	chr11:57521398-57521399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180752179	chr11:57521479-57521480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148028569	chr11:57521492-57521493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186440463	chr11:57521556-57521557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs511708	chr11:57521581-57521582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs61888880	chr11:57521627-57521628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs559530713	chr11:57521652-57521653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368267615	chr11:57521663-57521664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372533522	chr11:57521685-57521686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541771204	chr11:57521687-57521688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563247655	chr11:57521712-57521713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530252512	chr11:57521719-57521720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144897409	chr11:57521760-57521761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549782275	chr11:57521766-57521767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375810421	chr11:57521869-57521870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571970094	chr11:57521882-57521883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547558530	chr11:57521893-57521894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566305792	chr11:57521937-57521938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536840208	chr11:57521965-57521966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548757963	chr11:57521995-57521996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373143230	chr11:57522056-57522057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570378186	chr11:57522108-57522109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111799838	chr11:57522138-57522139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375038680	chr11:57522139-57522140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371206899	chr11:57522201-57522202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185042008	chr11:57522203-57522204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527938379	chr11:57522302-57522303	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs373475349	chr11:57522325-57522326	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs202070206	chr11:57522328-57522329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs200263728	chr11:57522332-57522333	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs537711586	chr11:57522364-57522365	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs377275212	chr11:57522437-57522438	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs551324477	chr11:57522460-57522461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs190865745	chr11:57522479-57522480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs558611720	chr11:57522484-57522485	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs111306585	chr11:57522496-57522497	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs61888881	chr11:57522542-57522543	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs61888903	chr11:57522552-57522553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs534753906	chr11:57522581-57522582	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs552788404	chr11:57522597-57522598	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs201453984	chr11:57522642-57522643	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	17142309	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57510400-57528800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:57511800-57528800	Weak transcription	Fetal Brain Male	brain
3	chr11:57512000-57528800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:57512200-57528800	Weak transcription	Colon Smooth Muscle	Colon
5	chr11:57512400-57528800	Weak transcription	HSMM	muscle
6	chr11:57512600-57521800	Weak transcription	Fetal Lung	lung
7	chr11:57512600-57526400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:57512600-57528800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:57512800-57521600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:57512800-57528800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:57513000-57528800	Weak transcription	HSMMtube	muscle
12	chr11:57513200-57528600	Weak transcription	NHEK	skin
13	chr11:57513600-57528800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr11:57513600-57528800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:57513600-57528800	Weak transcription	Colonic Mucosa	Colon
16	chr11:57513600-57529200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:57513600-57531200	Weak transcription	Gastric	stomach
18	chr11:57513800-57523600	Weak transcription	Primary T cells from cord blood	blood
19	chr11:57513800-57528600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:57513800-57528600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:57513800-57528800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:57513800-57528800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:57513800-57528800	Weak transcription	Dnd41	blood
24	chr11:57514000-57528800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr11:57514200-57530000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr11:57514400-57528600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:57514400-57528800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:57514600-57528800	Weak transcription	Placenta	Placenta
29	chr11:57514800-57528600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr11:57514800-57528600	Weak transcription	NH-A	brain
31	chr11:57514800-57528800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:57514800-57528800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:57514800-57528800	Weak transcription	Brain Angular Gyrus	brain
34	chr11:57514800-57528800	Weak transcription	Brain Germinal Matrix	brain
35	chr11:57514800-57528800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr11:57514800-57529200	Weak transcription	Lung	lung
37	chr11:57514800-57529200	Weak transcription	Thymus	Thymus
38	chr11:57515000-57528600	Weak transcription	Fetal Muscle Leg	muscle
39	chr11:57515000-57528800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr11:57515200-57528800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:57515400-57528600	Weak transcription	Fetal Stomach	stomach
42	chr11:57516000-57528800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:57516400-57523600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr11:57516600-57528800	Weak transcription	Primary B cells from cord blood	blood
45	chr11:57516600-57528800	Weak transcription	Brain Anterior Caudate	brain
46	chr11:57516600-57529200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:57516800-57528800	Weak transcription	Fetal Kidney	kidney
48	chr11:57516800-57528800	Weak transcription	Fetal Thymus	thymus
49	chr11:57517200-57528800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:57518800-57528600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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