Variant report

Variant	nsv471746
Chromosome Location	chr11:5623228-5624182
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:5623200-5623350	HEEpiC	esophagus:	n/a	n/a
2	POLR2A	chr11:5623070-5623230	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF384	chr11:5624142-5624273	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5622216..5624824-chr11:5624947..5627411,3	K562	blood:
2	chr11:5267593..5269501-chr11:5620817..5623766,2	K562	blood:

Variant related genes	Relation type
TRIM6	TF binding region
ENSG00000121236	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147450872	chr11:5623253-5623254	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs549490468	chr11:5623262-5623263	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs58676908	chr11:5623278-5623279	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs72880092	chr11:5623295-5623296	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs572871395	chr11:5623338-5623339	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs541958808	chr11:5623341-5623342	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs559324036	chr11:5623387-5623388	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs10769112	chr11:5623399-5623400	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs538509765	chr11:5623400-5623401	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs553774217	chr11:5623408-5623409	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs138326339	chr11:5623416-5623417	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs10838409	chr11:5623437-5623438	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs10838410	chr11:5623441-5623442	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs10838411	chr11:5623445-5623446	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs188762587	chr11:5623446-5623447	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs10769113	chr11:5623452-5623453	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs533680874	chr11:5623464-5623465	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs10769114	chr11:5623467-5623468	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs548692840	chr11:5623480-5623481	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs192471501	chr11:5623481-5623482	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs568982844	chr11:5623485-5623486	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs10838412	chr11:5623487-5623488	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs183278924	chr11:5623493-5623494	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs111575779	chr11:5623496-5623497	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs531796890	chr11:5623498-5623499	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs71053283	chr11:5623507-5623508	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201507741	chr11:5623515-5623516	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs192153421	chr11:5623530-5623531	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs571348399	chr11:5623532-5623533	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs538964767	chr11:5623534-5623535	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs553766906	chr11:5623539-5623540	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs183917717	chr11:5623600-5623601	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs144062462	chr11:5623604-5623605	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs187110392	chr11:5623605-5623606	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs146413218	chr11:5623617-5623618	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs568444777	chr11:5623622-5623623	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs192303169	chr11:5623628-5623629	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs575743011	chr11:5623629-5623630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs543104458	chr11:5623630-5623631	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs184633811	chr11:5623650-5623651	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs189199615	chr11:5623659-5623660	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs562355908	chr11:5623663-5623664	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs11038294	chr11:5623665-5623666	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs373168223	chr11:5623673-5623674	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs73400343	chr11:5623690-5623691	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs182199116	chr11:5623715-5623716	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs11038295	chr11:5623748-5623749	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs115525594	chr11:5623815-5623816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs531885956	chr11:5623828-5623829	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs184991836	chr11:5623869-5623870	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5618200-5624400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:5618400-5623800	Weak transcription	Placenta	Placenta
3	chr11:5618400-5640400	Weak transcription	Fetal Intestine Small	intestine
4	chr11:5618400-5642200	Weak transcription	Left Ventricle	heart
5	chr11:5618600-5640200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:5618600-5645200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:5619000-5623600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:5619000-5627600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:5619000-5629800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:5619000-5631400	Weak transcription	Fetal Intestine Large	intestine
11	chr11:5619000-5631800	Weak transcription	GM12878-XiMat	blood
12	chr11:5619200-5625800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:5619400-5626200	Weak transcription	Fetal Stomach	stomach
14	chr11:5619600-5624600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:5619600-5624600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:5619600-5626000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:5619600-5627000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:5619600-5627200	Weak transcription	NHDF-Ad	bronchial
19	chr11:5619600-5631800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:5619600-5636000	Weak transcription	Aorta	Aorta
21	chr11:5619600-5641600	Weak transcription	Lung	lung
22	chr11:5619600-5642000	Weak transcription	Ovary	ovary
23	chr11:5619600-5645600	Weak transcription	Esophagus	oesophagus
24	chr11:5619800-5624600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:5620000-5624200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:5620000-5625200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:5620200-5631400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr11:5620400-5624200	Weak transcription	Adipose Nuclei	Adipose
29	chr11:5620400-5624400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:5620400-5626000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:5621200-5624400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:5621600-5634000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr11:5622000-5624600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:5622000-5625600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:5622000-5633400	Weak transcription	Fetal Kidney	kidney
36	chr11:5622200-5623800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:5622200-5623800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:5622200-5623800	Weak transcription	NH-A	brain
39	chr11:5622200-5623800	Weak transcription	NHEK	skin
40	chr11:5622200-5624400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:5622200-5626000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:5622200-5629400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:5622200-5629600	Weak transcription	Pancreas	Pancrea
44	chr11:5622200-5641800	Weak transcription	K562	blood
45	chr11:5622400-5623800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:5622400-5623800	Weak transcription	Osteobl	bone
47	chr11:5622400-5624600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:5622400-5625800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:5622400-5626800	Weak transcription	Colon Smooth Muscle	Colon
50	chr11:5622400-5627200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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