Variant report

Variant	nsv38696
Chromosome Location	chr11:10757081-10762532
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:10645710..10647291-chr11:10756891..10757870,13	MCF-7	breast:
2	chr11:10427758..10428669-chr11:10756932..10757785,3	MCF-7	breast:
3	chr11:10759605..10762542-chr11:10773214..10775037,2	MCF-7	breast:
4	chr11:10759087..10762468-chr11:10762808..10764905,3	MCF-7	breast:
5	chr11:10675716..10676486-chr11:10756936..10757598,2	K562	blood:
6	chr11:10752675..10754963-chr11:10755463..10757300,2	K562	blood:
7	chr11:10687959..10690834-chr11:10758767..10760971,2	K562	blood:
8	chr11:10726070..10727726-chr11:10756782..10759046,2	K562	blood:
9	chr11:10756121..10759478-chr11:10761013..10764437,4	K562	blood:
10	chr11:10434718..10435292-chr11:10757181..10757746,2	MCF-7	breast:
11	chr11:10228823..10229753-chr11:10757048..10757561,2	K562	blood:
12	chr11:10702876..10705073-chr11:10754687..10757563,2	K562	blood:
13	chr11:10678917..10680760-chr11:10757378..10759987,2	K562	blood:
14	chr11:10760491..10763404-chr11:10769980..10771737,2	MCF-7	breast:
15	chr11:10756194..10759055-chr11:10771623..10774261,2	K562	blood:
16	chr11:10645775..10647638-chr11:10757654..10759171,2	K562	blood:
17	chr11:10586333..10586873-chr11:10757080..10757729,2	K562	blood:
18	chr11:10755622..10759318-chr11:10762937..10767532,4	K562	blood:
19	chr11:10675809..10676339-chr11:10757361..10757900,2	MCF-7	breast:
20	chr11:10429637..10431690-chr11:10756328..10758513,2	MCF-7	breast:
21	chr11:10645536..10647018-chr11:10756988..10757969,13	K562	blood:
22	chr11:10756121..10759478-chr11:10761013..10764437,4	K562	blood:
23	chr11:10678901..10680801-chr11:10754781..10757131,2	MCF-7	breast:
24	chr11:10427272..10428747-chr11:10756868..10757977,15	K562	blood:
25	chr11:10585636..10586718-chr11:10756889..10757976,5	MCF-7	breast:
26	chr11:10535492..10536882-chr11:10757031..10758034,5	K562	blood:
27	chr11:10756589..10759055-chr11:10771202..10773123,2	K562	blood:
28	chr11:10645674..10646632-chr11:10756942..10757922,7	MCF-7	breast:
29	chr11:10434756..10435452-chr11:10756898..10757941,4	MCF-7	breast:
30	chr11:10562517..10563132-chr11:10757044..10757560,2	K562	blood:
31	chr11:10535677..10536233-chr11:10756804..10757688,2	MCF-7	breast:
32	chr11:10756270..10758622-chr11:10829204..10831091,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198730	chromatin interactions
ENSG00000110321	chromatin interactions
ENSG00000133805	chromatin interactions
ENSG00000177112	chromatin interactions
ENSG00000110315	chromatin interactions
ENSG00000246308	chromatin interactions

Extended variants
information (count: 237 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:237 , 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	rs191878166	chr11:10757081-10757082	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs184377714	chr11:10757122-10757123	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs146055282	chr11:10757140-10757141	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs113535042	chr11:10757207-10757208	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs533596455	chr11:10757214-10757215	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs547586079	chr11:10757244-10757245	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs566992451	chr11:10757294-10757295	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs535982206	chr11:10757312-10757313	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs148721186	chr11:10757322-10757323	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs4910184	chr11:10757334-10757335	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs544025877	chr11:10757364-10757365	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs141452389	chr11:10757370-10757371	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs538562242	chr11:10757383-10757384	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs12574531	chr11:10757425-10757426	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs541182000	chr11:10757426-10757427	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs561088892	chr11:10757428-10757429	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs57285946	chr11:10757436-10757437	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs576984572	chr11:10757461-10757462	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs12574541	chr11:10757491-10757492	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs562897545	chr11:10757503-10757504	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs559590149	chr11:10757575-10757576	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs531649756	chr11:10757576-10757577	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs551758442	chr11:10757582-10757583	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs377210170	chr11:10757607-10757608	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs565188985	chr11:10757617-10757618	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs527997880	chr11:10757642-10757643	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs150851640	chr11:10757747-10757748	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs78966806	chr11:10757759-10757760	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs372839801	chr11:10757772-10757773	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs11042941	chr11:10757803-10757804	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs569626968	chr11:10757832-10757833	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs538217194	chr11:10757854-10757855	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs11042942	chr11:10757859-10757860	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs115135196	chr11:10757911-10757912	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs145546833	chr11:10757965-10757966	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs7115390	chr11:10757993-10757994	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs531029872	chr11:10758012-10758013	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs11042943	chr11:10758018-10758019	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs182481501	chr11:10758032-10758033	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs374086022	chr11:10758038-10758039	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs556339779	chr11:10758057-10758058	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs576482880	chr11:10758062-10758063	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs545043495	chr11:10758107-10758108	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs564950875	chr11:10758148-10758149	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs527964833	chr11:10758157-10758158	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs114295127	chr11:10758178-10758179	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs371000275	chr11:10758186-10758187	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs561145509	chr11:10758204-10758205	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs113214726	chr11:10758231-10758232	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs550359663	chr11:10758237-10758238	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:45)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10754200-10759600	Weak transcription	Right Atrium	heart
2	chr11:10755600-10757600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:10755600-10758000	Enhancers	Fetal Stomach	stomach
4	chr11:10756200-10757400	Enhancers	Fetal Lung	lung
5	chr11:10756200-10757800	Weak transcription	Aorta	Aorta
6	chr11:10756200-10758200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:10756200-10758200	Enhancers	Esophagus	oesophagus
8	chr11:10756200-10758200	Enhancers	Ovary	ovary
9	chr11:10756400-10757200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:10756400-10757400	Enhancers	Fetal Brain Male	brain
11	chr11:10756400-10758000	Weak transcription	Lung	lung
12	chr11:10756600-10772000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:10756800-10757200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:10756800-10757200	Enhancers	Fetal Heart	heart
15	chr11:10756800-10757200	Flanking Active TSS	A549	lung
16	chr11:10756800-10757200	Enhancers	HUVEC	blood vessel
17	chr11:10756800-10758200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:10756800-10758200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr11:10757000-10757200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:10757000-10757200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
21	chr11:10757000-10757200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:10757000-10757200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr11:10757000-10757200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr11:10757000-10757200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:10757000-10757200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr11:10757000-10757200	Enhancers	Primary T cells fromperipheralblood	blood
27	chr11:10757000-10757200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr11:10757000-10757200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:10757000-10757200	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr11:10757000-10757200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:10757000-10757200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:10757000-10757200	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr11:10757000-10757200	Enhancers	Brain Germinal Matrix	brain
34	chr11:10757000-10757200	Active TSS	Fetal Brain Female	brain
35	chr11:10757000-10757200	Flanking Active TSS	Fetal Kidney	kidney
36	chr11:10757000-10757200	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr11:10757000-10757200	Enhancers	Rectal Smooth Muscle	rectum
38	chr11:10757000-10757200	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr11:10757000-10757200	Enhancers	HMEC	breast
40	chr11:10757000-10757200	Enhancers	NH-A	brain
41	chr11:10757000-10757200	Flanking Active TSS	NHDF-Ad	bronchial
42	chr11:10757000-10757200	Flanking Active TSS	NHLF	lung
43	chr11:10757000-10757400	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr11:10757000-10757400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr11:10757000-10757400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:10757000-10757400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr11:10757000-10757400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr11:10757000-10757400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:10757000-10757400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr11:10757000-10757400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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