Variant report

Variant	esv3500025
Chromosome Location	chr11:47640335-47647353
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:47643429-47643592	HepG2	liver:	n/a	n/a
2	CEBPB	chr11:47643429-47643498	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr11:47643471-47643529	K562	blood:	n/a	n/a
4	CEBPB	chr11:47642315-47642457	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr11:47641920-47642070	A549	lung:	n/a	n/a
6	CTCF	chr11:47640251-47640439	T-47D	breast:	n/a	n/a
7	E2F4	chr11:47642320-47642530	MCF10A-Er-Src	breast:	n/a	n/a
8	E2F4	chr11:47644347-47644464	MCF10A-Er-Src	breast:	n/a	n/a
9	MYC	chr11:47643478-47643647	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:47647304-47647359	MCF-7	breast:	n/a	n/a
11	POLR2A	chr11:47641950-47641975	MCF-7	breast:	n/a	n/a
12	POLR2A	chr11:47646458-47646673	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:47642410-47642588	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:47640506-47641147	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:47641190-47641592	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:47640639-47640641	K562	blood:	n/a	n/a
17	POLR2A	chr11:47640755-47641038	K562	blood:	n/a	n/a
18	POLR2A	chr11:47646065-47646240	HepG2	liver:	n/a	n/a
19	POLR2A	chr11:47643425-47643585	K562	blood:	n/a	n/a
20	POLR2A	chr11:47645861-47645998	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr11:47642985-47643295	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:47641838-47642177	HepG2	liver:	n/a	n/a
23	POLR2A	chr11:47645900-47646027	HepG2	liver:	n/a	n/a
24	POLR2A	chr11:47645412-47645761	HepG2	liver:	n/a	n/a
25	POLR2A	chr11:47647307-47647472	HepG2	liver:	n/a	n/a
26	SP1	chr11:47640234-47640518	H1-hESC	embryonic stem cell:	n/a	n/a
27	USF2	chr11:47642292-47642320	Hela-S3	cervix:	n/a	chr11:47642301-47642312

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47636685..47639301-chr11:47641827..47644526,2	K562	blood:
2	chr11:47638979..47640654-chr11:47662400..47665038,2	K562	blood:
3	chr11:47556504..47558457-chr11:47638712..47641328,2	K562	blood:
4	chr11:47645801..47647431-chr11:47648985..47650624,2	MCF-7	breast:
5	chr11:47642292..47646054-chr11:47647189..47650672,3	K562	blood:
6	chr11:47643472..47645820-chr11:47651025..47653497,2	K562	blood:
7	chr11:47592171..47594206-chr11:47641460..47643719,2	MCF-7	breast:
8	chr11:47642292..47646054-chr11:47647189..47650672,3	K562	blood:
9	chr11:47642868..47645795-chr11:47645972..47648813,2	MCF-7	breast:
10	chr11:47637426..47639040-chr11:47647295..47649989,2	MCF-7	breast:
11	chr11:47642868..47645795-chr11:47645972..47648813,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000223187	TF binding region
ENSG00000109919	chromatin interactions

Extended variants
information (count: 235 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:235 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72909879	chr11:47640337-47640338	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs368673666	chr11:47640340-47640341	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs145837180	chr11:47640348-47640349	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs78476140	chr11:47640349-47640350	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs77215521	chr11:47640350-47640351	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs76999459	chr11:47640355-47640356	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs76315325	chr11:47640367-47640368	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs370903200	chr11:47640370-47640371	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs73465610	chr11:47640398-47640399	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs200224785	chr11:47640412-47640413	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs138027870	chr11:47640416-47640417	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs200944485	chr11:47640426-47640427	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs1064608	chr11:47640429-47640430	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs75795699	chr11:47640430-47640431	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs77246756	chr11:47640431-47640432	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs75171263	chr11:47640432-47640433	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs79859658	chr11:47640433-47640434	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs77581661	chr11:47640437-47640438	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs373874332	chr11:47640440-47640441	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs75874827	chr11:47640445-47640446	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs76495167	chr11:47640458-47640459	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs202059615	chr11:47640465-47640466	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs184913099	chr11:47640511-47640512	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs148978042	chr11:47640560-47640561	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs55656834	chr11:47640661-47640662	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs557260077	chr11:47640754-47640755	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs79754936	chr11:47640762-47640763	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs536518477	chr11:47640830-47640831	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs553007962	chr11:47640839-47640840	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs369226890	chr11:47640853-47640854	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs189613186	chr11:47640863-47640864	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs558681496	chr11:47640890-47640891	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs7116299	chr11:47640891-47640892	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs544463774	chr11:47640924-47640925	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs546233906	chr11:47640932-47640933	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs561495096	chr11:47640933-47640934	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs374974938	chr11:47640935-47640936	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs575051048	chr11:47640940-47640941	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs547778439	chr11:47640941-47640942	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs191353937	chr11:47641022-47641023	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs184582504	chr11:47641046-47641047	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs552284032	chr11:47641053-47641054	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs113904593	chr11:47641065-47641066	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs10838735	chr11:47641175-47641176	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs189450855	chr11:47641213-47641214	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs146436705	chr11:47641233-47641234	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs34973995	chr11:47641357-47641358	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs567407916	chr11:47641366-47641367	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs12799283	chr11:47641373-47641374	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs12800909	chr11:47641375-47641376	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
lymphocytic leukemia	21291569	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47617600-47643200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:47621000-47640400	Weak transcription	Fetal Brain Female	brain
3	chr11:47621600-47647600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:47621800-47642000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:47627800-47643200	Weak transcription	Pancreas	Pancrea
6	chr11:47628800-47642000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:47629800-47640800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:47629800-47642400	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:47630000-47641200	Weak transcription	Small Intestine	intestine
10	chr11:47630000-47642200	Weak transcription	Fetal Brain Male	brain
11	chr11:47630400-47648600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:47630400-47649600	Weak transcription	Fetal Heart	heart
13	chr11:47631200-47642400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr11:47631400-47640600	Weak transcription	Brain Germinal Matrix	brain
15	chr11:47633000-47640600	Weak transcription	Aorta	Aorta
16	chr11:47633000-47641800	Weak transcription	Spleen	Spleen
17	chr11:47633200-47641400	Weak transcription	Gastric	stomach
18	chr11:47633200-47642000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:47633200-47642000	Weak transcription	Esophagus	oesophagus
20	chr11:47633600-47641400	Weak transcription	Psoas Muscle	Psoas
21	chr11:47633600-47647200	Weak transcription	Right Ventricle	heart
22	chr11:47633800-47640600	Weak transcription	Lung	lung
23	chr11:47633800-47641800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:47635000-47642400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr11:47635400-47642000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:47635400-47643200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr11:47635600-47640400	Weak transcription	NHEK	skin
28	chr11:47635800-47643200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:47636400-47642000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:47636600-47641800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr11:47636600-47661400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:47636800-47640600	Strong transcription	A549	lung
33	chr11:47636800-47653800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:47637000-47653400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:47637600-47648800	Strong transcription	Fetal Intestine Large	intestine
36	chr11:47637600-47650800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr11:47637600-47653200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:47637600-47653200	Strong transcription	Liver	Liver
39	chr11:47637600-47657200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr11:47637600-47660800	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr11:47637600-47661200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:47637600-47663200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr11:47637800-47641000	Strong transcription	Primary T cells from cord blood	blood
44	chr11:47637800-47642400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr11:47637800-47653200	Strong transcription	Left Ventricle	heart
46	chr11:47637800-47660400	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:47637800-47661000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr11:47637800-47661000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr11:47638000-47641400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:47638000-47661400	Strong transcription	Fetal Thymus	thymus

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