Variant report

Variant	nsv1038101
Chromosome Location	chr11:23556680-23685548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:23646416..23648510-chr11:23648713..23651046,2	K562	blood:
2	chr11:23623560..23625973-chr11:23631898..23634252,2	MCF-7	breast:
3	chr11:23561735..23562349-chr11:24176838..24178049,3	MCF-7	breast:
4	chr11:23438196..23441046-chr11:23620959..23622715,2	K562	blood:
5	chr11:23561652..23562153-chr11:24408342..24409000,2	MCF-7	breast:
6	chr11:23135057..23135761-chr11:23575313..23576218,2	MCF-7	breast:
7	chr11:23628052..23630839-chr11:23632616..23635323,2	K562	blood:
8	chr11:23646416..23648510-chr11:23648713..23651046,2	K562	blood:
9	chr11:23628052..23630839-chr11:23632616..23635323,2	K562	blood:
10	chr11:23561715..23562257-chr11:26297964..26298642,2	MCF-7	breast:
11	chr11:23623560..23625973-chr11:23631898..23634252,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LUZP2-5	chr11:23683281-23683759	NONHSAT018424

No data

Extended variants
information (count: 2296 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2296 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114220690	chr11:23561002-23561003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs57012266	chr11:23561049-23561050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374260904	chr11:23561050-23561051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7946969	chr11:23561062-23561063	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs569675593	chr11:23561063-23561064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535384716	chr11:23561082-23561083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548512615	chr11:23561103-23561104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117283570	chr11:23561148-23561149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6483959	chr11:23561177-23561178	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs557512455	chr11:23561189-23561190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577382025	chr11:23561191-23561192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141515602	chr11:23561198-23561199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181065825	chr11:23561202-23561203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533802426	chr11:23561225-23561226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531720118	chr11:23561233-23561234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542198894	chr11:23561234-23561235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561989456	chr11:23561277-23561278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145290347	chr11:23561281-23561282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs202067321	chr11:23561291-23561292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548143231	chr11:23561295-23561296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564787509	chr11:23561339-23561340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533540951	chr11:23561347-23561348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570409910	chr11:23561354-23561355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35832632	chr11:23561368-23561369	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs569694565	chr11:23561400-23561401	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs371645841	chr11:23561459-23561460	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs535242097	chr11:23561551-23561552	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs548940595	chr11:23561559-23561560	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs369568134	chr11:23561584-23561585	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs565571203	chr11:23561585-23561586	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs534330496	chr11:23561621-23561622	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs12795099	chr11:23561649-23561650	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs12793469	chr11:23561654-23561655	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs118109993	chr11:23561679-23561680	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs7110430	chr11:23561702-23561703	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs576479120	chr11:23561828-23561829	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs75828545	chr11:23561836-23561837	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs562099102	chr11:23561864-23561865	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs572376925	chr11:23561875-23561876	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs377408566	chr11:23561877-23561878	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs368447674	chr11:23561878-23561879	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs541461155	chr11:23561909-23561910	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs374963848	chr11:23561910-23561911	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs564724141	chr11:23561913-23561914	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs12794252	chr11:23561916-23561917	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs149471880	chr11:23561921-23561922	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs7935902	chr11:23561927-23561928	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs200544132	chr11:23561932-23561933	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs113893040	chr11:23561935-23561936	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs548767443	chr11:23561954-23561955	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:23561000-23561400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr11:23561000-23561600	Enhancers	Dnd41	blood
3	chr11:23561000-23562600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:23561000-23563200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:23561200-23561400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:23561200-23561400	Enhancers	Aorta	Aorta
7	chr11:23561200-23561400	Enhancers	Colon Smooth Muscle	Colon
8	chr11:23561200-23561600	Enhancers	Fetal Intestine Large	intestine
9	chr11:23561200-23561600	Enhancers	NHLF	lung
10	chr11:23561200-23561800	Enhancers	Stomach Mucosa	stomach
11	chr11:23561200-23561800	Enhancers	NH-A	brain
12	chr11:23561200-23562200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:23561200-23562200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:23561400-23561600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:23561400-23561600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr11:23561400-23561600	Enhancers	Fetal Lung	lung
17	chr11:23561400-23561800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:23561400-23561800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:23561400-23561800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:23561400-23561800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:23561400-23561800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:23561400-23561800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr11:23561400-23561800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:23561400-23561800	Flanking Active TSS	Colon Smooth Muscle	Colon
25	chr11:23561400-23561800	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr11:23561400-23561800	Enhancers	Rectal Smooth Muscle	rectum
27	chr11:23561400-23561800	Enhancers	Hela-S3	cervix
28	chr11:23561400-23561800	Enhancers	Osteobl	bone
29	chr11:23561400-23562200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:23561400-23562200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr11:23561400-23564000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr11:23561400-23564000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr11:23561600-23561800	Enhancers	Primary hematopoietic stem cells	blood
34	chr11:23561600-23562200	Enhancers	Adipose Nuclei	Adipose
35	chr11:23561600-23562200	Enhancers	Fetal Muscle Leg	muscle
36	chr11:23561600-23562600	Flanking Active TSS	Dnd41	blood
37	chr11:23561600-23562800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr11:23561600-23564000	Weak transcription	Fetal Intestine Large	intestine
39	chr11:23561600-23577600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:23561800-23562200	Enhancers	Colon Smooth Muscle	Colon
41	chr11:23561800-23562400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:23561800-23564000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:23561800-23565400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:23562000-23562200	Enhancers	Aorta	Aorta
45	chr11:23562200-23562400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr11:23562200-23562600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr11:23562200-23563000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:23562200-23563000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:23562200-23563200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr11:23562600-23563600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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