Variant report

Variant	esv3351871
Chromosome Location	chr11:5666376-5668324
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:122)
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	GATA2	chr11:5667509-5667824	SH-SY5Y	brain:	n/a	chr11:5667670-5667677 chr11:5667670-5667679 chr11:5667663-5667684 chr11:5667669-5667679 chr11:5667668-5667681
2	NR3C1	chr11:5667503-5667824	A549	lung:	n/a	chr11:5667649-5667664 chr11:5667650-5667664 chr11:5667548-5667555 chr11:5667650-5667664 chr11:5667647-5667668
3	NR3C1	chr11:5667517-5667846	A549	lung:	n/a	chr11:5667649-5667664 chr11:5667650-5667664 chr11:5667548-5667555 chr11:5667650-5667664 chr11:5667647-5667668

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5667836-5667886	SKMC	muscle:	n/a
2	chr11:5668206-5668256	NB4	blood:	n/a
3	chr11:5668206-5668256	HRE	kidney:	n/a
4	chr11:5667836-5667886	Hepatocyte	liver:	n/a
5	chr11:5668206-5668256	GM19239	blood:	n/a
6	chr11:5667836-5667886	SK-N-SH_RA	brain:	n/a
7	chr11:5668206-5668256	NH-A	brain:	n/a
8	chr11:5667836-5667886	HRE	kidney:	n/a
9	chr11:5667836-5667886	AG09319	gingival:	n/a
10	chr11:5668206-5668256	HNPCEpiC	eye:	n/a
11	chr11:5668206-5668256	GM12891	blood:	n/a
12	chr11:5667836-5667886	AG04449	skin:	fetal
13	chr11:5668206-5668256	ovcar-3	ovarian:	n/a
14	chr11:5668206-5668256	HPAEpiC	pulmonary alveolar:	n/a
15	chr11:5668206-5668256	BE2_C	brain:	n/a
16	chr11:5667836-5667886	ProgFib	skin:	n/a
17	chr11:5667836-5667886	K562	blood:	n/a
18	chr11:5667836-5667886	NB4	blood:	n/a
19	chr11:5667836-5667886	A549	lung:	n/a
20	chr11:5667836-5667886	Caco-2	colon:	n/a
21	chr11:5667836-5667886	HUVEC	blood vessel:	n/a
22	chr11:5668206-5668256	AG04450	lung:	fetal
23	chr11:5668206-5668256	ECC-1	luminal epithelium:	n/a
24	chr11:5667836-5667886	H1-hESC	embryonic stem cell:	embryo
25	chr11:5667836-5667886	NH-A	brain:	n/a
26	chr11:5668206-5668256	HUVEC	blood vessel:	n/a
27	chr11:5667836-5667886	ovcar-3	ovarian:	n/a
28	chr11:5668206-5668256	HEEpiC	esophagus:	n/a
29	chr11:5668206-5668256	A549	lung:	n/a
30	chr11:5668206-5668256	MCF10A-Er-Src	breast:	n/a
31	chr11:5667836-5667886	HPAEpiC	pulmonary alveolar:	n/a
32	chr11:5668206-5668256	HCT-116	colon:	n/a
33	chr11:5667836-5667886	HRPEpiC	eye:	n/a
34	chr11:5668206-5668256	SK-N-SH_RA	brain:	n/a
35	chr11:5668206-5668256	K562	blood:	n/a
36	chr11:5668206-5668256	NHDF-neo	bronchial:	n/a
37	chr11:5668206-5668256	AG09309	skin:	n/a
38	chr11:5668206-5668256	H1-hESC	embryonic stem cell:	embryo
39	chr11:5667836-5667886	AoSMC	blood vessel:	n/a
40	chr11:5668206-5668256	Jurkat	blood:	n/a
41	chr11:5667836-5667886	HMEC	breast:	n/a
42	chr11:5667836-5667886	T-47D	breast:	n/a
43	chr11:5667836-5667886	GM12892	blood:	n/a
44	chr11:5668206-5668256	HRCEpiC	kidney:	n/a
45	chr11:5667836-5667886	Jurkat	blood:	n/a
46	chr11:5668206-5668256	HCPEpiC	choroid plexus:	n/a
47	chr11:5667836-5667886	SK-N-MC	brain:	n/a
48	chr11:5667836-5667886	MCF-7	breast:	n/a
49	chr11:5667836-5667886	HRCEpiC	kidney:	n/a
50	chr11:5667836-5667886	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5540984..5543970-chr11:5665304..5667004,2	K562	blood:
2	11:5469844-5475173..11:5661051-5666977	H1-hESC	embryonic stem cell:	embryo
3	chr11:5658353..5660211-chr11:5664056..5666741,2	K562	blood:

No data

Variant related genes	Relation type
HBG2	TF binding region
HBG2	CpG island
ENSG00000187918	chromatin interactions

Extended variants
information (count: 83 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114689588	chr11:5666378-5666379	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs117309540	chr11:5666403-5666404	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531569959	chr11:5666404-5666405	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs7114738	chr11:5666405-5666406	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs11038508	chr11:5666425-5666426	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs370743066	chr11:5666439-5666440	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs7126275	chr11:5666455-5666456	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs547252424	chr11:5666508-5666509	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559717163	chr11:5666537-5666538	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs530031167	chr11:5666547-5666548	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs7114996	chr11:5666570-5666571	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs569668543	chr11:5666571-5666572	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs537003550	chr11:5666596-5666597	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs569408827	chr11:5666605-5666606	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs71468044	chr11:5666622-5666623	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs35929529	chr11:5666623-5666624	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552287414	chr11:5666632-5666633	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs201487395	chr11:5666641-5666642	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs16933883	chr11:5666664-5666665	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs112754264	chr11:5666782-5666783	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs188940554	chr11:5666785-5666786	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs147500897	chr11:5666803-5666804	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs554795358	chr11:5666809-5666810	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs192971728	chr11:5666840-5666841	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs184807662	chr11:5666845-5666846	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs543444071	chr11:5666869-5666870	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs189791123	chr11:5666881-5666882	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs77583616	chr11:5666882-5666883	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs117916577	chr11:5666888-5666889	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs573987575	chr11:5666915-5666916	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs559610186	chr11:5666940-5666941	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs529865548	chr11:5667017-5667018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10838482	chr11:5667082-5667083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs12806715	chr11:5667085-5667086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559644155	chr11:5667098-5667099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35431280	chr11:5667108-5667109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527700797	chr11:5667110-5667111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57456892	chr11:5667111-5667112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377284585	chr11:5667112-5667113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530573229	chr11:5667114-5667115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551866915	chr11:5667117-5667118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570564028	chr11:5667142-5667143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534438280	chr11:5667143-5667144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531019989	chr11:5667146-5667147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546649444	chr11:5667189-5667190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11038513	chr11:5667259-5667260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs529209000	chr11:5667264-5667265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528290116	chr11:5667272-5667273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376328234	chr11:5667274-5667275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140108190	chr11:5667276-5667277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	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
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	23613489	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5647000-5666800	Weak transcription	Fetal Brain Male	brain
2	chr11:5647000-5698800	Weak transcription	Colonic Mucosa	Colon
3	chr11:5647400-5667200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:5647400-5669400	Weak transcription	Right Ventricle	heart
5	chr11:5647400-5675600	Weak transcription	Pancreas	Pancrea
6	chr11:5647400-5689400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:5647600-5668000	Weak transcription	A549	lung
8	chr11:5647800-5690600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr11:5649200-5695600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:5654000-5666400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:5654400-5666400	Strong transcription	Primary B cells from peripheral blood	blood
12	chr11:5654600-5666400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:5655800-5674200	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:5656200-5667000	Weak transcription	NHLF	lung
15	chr11:5656200-5675000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:5656400-5667000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:5656400-5684600	Weak transcription	Osteobl	bone
18	chr11:5656400-5688800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:5657400-5668400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr11:5661600-5667800	Weak transcription	Brain Substantia Nigra	brain
21	chr11:5662000-5667000	Strong transcription	Placenta	Placenta
22	chr11:5662600-5666400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:5663000-5666400	Strong transcription	Lung	lung
24	chr11:5663000-5666600	Strong transcription	Fetal Stomach	stomach
25	chr11:5663400-5666400	Strong transcription	Left Ventricle	heart
26	chr11:5663600-5667000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr11:5663600-5667200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:5663600-5669000	Weak transcription	Dnd41	blood
29	chr11:5663800-5673600	Weak transcription	Aorta	Aorta
30	chr11:5664000-5666400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:5664000-5685000	Weak transcription	Fetal Thymus	thymus
32	chr11:5664000-5686200	Weak transcription	Small Intestine	intestine
33	chr11:5664000-5686200	Weak transcription	Thymus	Thymus
34	chr11:5664000-5699400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:5664200-5671600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr11:5664600-5666600	Strong transcription	Fetal Intestine Small	intestine
37	chr11:5665000-5667800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr11:5665200-5667400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:5665200-5667400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:5665400-5667200	Weak transcription	Fetal Muscle Leg	muscle
41	chr11:5665400-5667200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr11:5665400-5667400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:5665400-5667800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:5665400-5668400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr11:5665400-5669400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr11:5665400-5682600	Weak transcription	Primary T cells from cord blood	blood
47	chr11:5665400-5682600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr11:5665400-5685200	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr11:5665400-5685400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:5665400-5685400	Weak transcription	Primary hematopoietic stem cells	blood

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