Variant report

Variant	nsv1040979
Chromosome Location	chr11:8223090-8272605
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:53)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:8213801..8214811-chr11:8255818..8256741,4	MCF-7	breast:
2	chr11:8241857..8244294-chr11:8285693..8287508,2	MCF-7	breast:
3	chr11:8220775..8223100-chr11:8236365..8237954,2	K562	blood:
4	chr11:8246830..8247795-chr11:8284328..8285954,8	MCF-7	breast:
5	chr11:8232492..8234161-chr11:8243495..8246469,2	MCF-7	breast:
6	chr11:8216194..8218883-chr11:8223154..8225386,2	K562	blood:
7	chr11:8246851..8247794-chr11:8284994..8285921,4	K562	blood:
8	chr11:8240511..8243213-chr11:8251198..8252842,2	MCF-7	breast:
9	chr11:8246821..8247804-chr11:8339787..8340357,4	K562	blood:
10	chr11:8246793..8247746-chr11:8331015..8332087,7	MCF-7	breast:
11	chr11:8246186..8249103-chr11:8262582..8264970,2	MCF-7	breast:
12	chr11:8268599..8269269-chr11:8587801..8588723,2	MCF-7	breast:
13	chr11:8268558..8269501-chr11:8331221..8332088,4	MCF-7	breast:
14	chr11:8256730..8259661-chr11:8260458..8262936,2	MCF-7	breast:
15	chr11:8243847..8246552-chr11:8286102..8287980,2	MCF-7	breast:
16	chr11:8268473..8269202-chr11:8285033..8285866,4	MCF-7	breast:
17	chr11:8218272..8221882-chr11:8224030..8226570,5	K562	blood:
18	chr11:8246819..8247796-chr11:8587795..8588887,6	K562	blood:
19	chr11:8265685..8268604-chr11:8271321..8272913,2	K562	blood:
20	chr11:8256730..8259661-chr11:8260458..8262936,2	MCF-7	breast:
21	chr11:8265685..8268604-chr11:8271321..8272913,2	K562	blood:
22	chr11:8223360..8225653-chr11:8985762..8987357,2	K562	blood:
23	chr11:8271068..8272703-chr11:8275699..8278065,2	K562	blood:
24	chr11:8229603..8232358-chr11:8234260..8235927,2	K562	blood:
25	chr11:8240511..8243213-chr11:8251198..8252842,2	MCF-7	breast:
26	chr11:8241197..8242786-chr11:8586467..8588644,2	K562	blood:
27	chr11:8240572..8241445-chr11:8255850..8256639,2	MCF-7	breast:
28	chr11:8240572..8241445-chr11:8255850..8256639,2	MCF-7	breast:
29	chr11:8249899..8251807-chr11:8296124..8297995,2	K562	blood:
30	chr11:8246784..8247740-chr11:8358842..8359450,2	K562	blood:
31	chr11:8240565..8241282-chr3:23583238..23584175,2	MCF-7	breast:
32	chr11:8213811..8214943-chr11:8230472..8231459,4	K562	blood:
33	chr11:8250037..8251765-chr11:8253973..8256668,2	MCF-7	breast:
34	chr11:8255968..8256811-chr11:8268580..8269091,2	MCF-7	breast:
35	chr11:8220775..8223100-chr11:8236365..8237954,2	K562	blood:
36	chr11:8255968..8256811-chr11:8268580..8269091,2	MCF-7	breast:
37	chr11:8213784..8214547-chr11:8246894..8247601,2	K562	blood:
38	chr11:8251637..8254146-chr11:8258792..8260610,3	MCF-7	breast:
39	chr11:8251637..8254146-chr11:8258792..8260610,3	MCF-7	breast:
40	chr11:8247112..8247751-chr11:8585830..8586373,2	MCF-7	breast:
41	chr11:8249580..8251864-chr11:8283757..8285266,2	MCF-7	breast:
42	chr11:8252672..8254390-chr11:8777665..8779593,2	K562	blood:
43	chr11:8264898..8266897-chr11:8268453..8270651,2	K562	blood:
44	chr11:8239576..8241463-chr11:8244313..8247230,2	K562	blood:
45	chr11:8246186..8249103-chr11:8262582..8264970,2	MCF-7	breast:
46	chr11:8261526..8263630-chr11:8285131..8286781,2	MCF-7	breast:
47	chr11:8268570..8269488-chr11:8284856..8285974,4	MCF-7	breast:
48	chr11:8264898..8266897-chr11:8268453..8270651,2	K562	blood:
49	chr11:8229603..8232358-chr11:8234260..8235927,2	K562	blood:
50	chr11:8239576..8241463-chr11:8244313..8247230,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TUB-6	chr11:8261271-8261586	uc_319_+
2	lnc-LMO1-2	chr11:8223002-8230737	NONHSAT017846
3	lnc-RIC3-3	chr11:8261271-8261586	uc_319_-

No data

Variant related genes	Relation type
ENSG00000175348	chromatin interactions
ENSG00000166444	chromatin interactions
ENSG00000254860	chromatin interactions
ENSG00000130413	chromatin interactions
ENSG00000166407	chromatin interactions

Extended variants
information (count: 2137 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2137 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55885664	chr11:8223103-8223104	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs66827924	chr11:8223179-8223180	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs11267542	chr11:8223182-8223183	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs371400542	chr11:8223188-8223189	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs373719145	chr11:8223190-8223191	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs201480176	chr11:8223191-8223192	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs141488315	chr11:8223246-8223247	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs550149879	chr11:8223294-8223295	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs570146884	chr11:8223354-8223355	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs570757458	chr11:8223369-8223370	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs539125685	chr11:8223521-8223522	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs551159239	chr11:8223563-8223564	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs193235189	chr11:8223573-8223574	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs150845964	chr11:8223583-8223584	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs536002576	chr11:8223596-8223597	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs370475718	chr11:8223629-8223630	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs149560583	chr11:8223637-8223638	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs575892541	chr11:8223644-8223645	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs111496492	chr11:8223665-8223666	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs538199017	chr11:8223667-8223668	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs61230330	chr11:8223683-8223684	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554119707	chr11:8223709-8223710	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs578091045	chr11:8223747-8223748	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs540653318	chr11:8223768-8223769	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs554274971	chr11:8223827-8223828	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs12365701	chr11:8223828-8223829	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs10743061	chr11:8223869-8223870	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs561773093	chr11:8223879-8223880	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs537882163	chr11:8223951-8223952	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs184682118	chr11:8223952-8223953	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs556349527	chr11:8223992-8223993	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs544127668	chr11:8224000-8224001	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs189053336	chr11:8224003-8224004	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs532730522	chr11:8224025-8224026	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs546195223	chr11:8224039-8224040	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs375070195	chr11:8224066-8224067	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs538590493	chr11:8224145-8224146	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs576138714	chr11:8224161-8224162	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs529027649	chr11:8224176-8224177	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs549548052	chr11:8224214-8224215	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs569388185	chr11:8224222-8224223	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs538521161	chr11:8224224-8224225	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs181442254	chr11:8224347-8224348	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs571985940	chr11:8224379-8224380	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs185735313	chr11:8224399-8224400	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs147221714	chr11:8224493-8224494	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs574068666	chr11:8224501-8224502	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs542787778	chr11:8224502-8224503	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs189706770	chr11:8224509-8224510	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs544707749	chr11:8224566-8224567	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	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
T-cell prolymphocytic leukemia	19278963	CNVD
Dysmorphic features	22052655	CNVD
Intellectual disability	22052655	CNVD
Obesity	22052655	CNVD
Prostate cancer	18632612	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:743 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8217400-8223200	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:8217600-8223800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:8219000-8223200	Weak transcription	Brain Substantia Nigra	brain
4	chr11:8222600-8227400	Enhancers	Primary B cells from cord blood	blood
5	chr11:8222600-8227400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:8222600-8228000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr11:8223000-8223200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:8223000-8223800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:8223000-8224600	Enhancers	Primary hematopoietic stem cells	blood
10	chr11:8223000-8224600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr11:8223000-8225200	Enhancers	Adipose Nuclei	Adipose
12	chr11:8223000-8225400	Enhancers	Fetal Lung	lung
13	chr11:8223000-8227200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr11:8223000-8227200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:8223000-8227400	Enhancers	Brain Germinal Matrix	brain
16	chr11:8223000-8228000	Enhancers	Primary B cells from peripheral blood	blood
17	chr11:8223000-8228800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:8223200-8223400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
19	chr11:8223200-8223400	Enhancers	Brain Cingulate Gyrus	brain
20	chr11:8223200-8223400	Enhancers	Brain Substantia Nigra	brain
21	chr11:8223200-8223400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr11:8223200-8223400	Enhancers	Fetal Muscle Trunk	muscle
23	chr11:8223200-8223400	Enhancers	GM12878-XiMat	blood
24	chr11:8223200-8223600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:8223200-8223600	Enhancers	Fetal Thymus	thymus
26	chr11:8223200-8223600	Enhancers	Left Ventricle	heart
27	chr11:8223200-8224000	Enhancers	K562	blood
28	chr11:8223200-8224200	Enhancers	Brain Anterior Caudate	brain
29	chr11:8223200-8224600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:8223200-8224600	Enhancers	Fetal Muscle Leg	muscle
31	chr11:8223200-8225000	Enhancers	Fetal Brain Male	brain
32	chr11:8223200-8225200	Enhancers	Fetal Brain Female	brain
33	chr11:8223200-8225200	Enhancers	Spleen	Spleen
34	chr11:8223200-8225800	Enhancers	Brain Hippocampus Middle	brain
35	chr11:8223400-8223600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr11:8223400-8223600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:8223400-8223600	Flanking Active TSS	GM12878-XiMat	blood
38	chr11:8223400-8223800	Weak transcription	Brain Substantia Nigra	brain
39	chr11:8223400-8224800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr11:8223400-8225800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr11:8223400-8227400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr11:8223600-8223800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr11:8223600-8223800	Enhancers	GM12878-XiMat	blood
44	chr11:8223600-8227000	Weak transcription	Fetal Thymus	thymus
45	chr11:8223600-8227600	Weak transcription	Left Ventricle	heart
46	chr11:8223600-8228000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:8223800-8224000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:8223800-8224000	Flanking Active TSS	GM12878-XiMat	blood
49	chr11:8223800-8224600	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr11:8223800-8224600	Enhancers	Brain Substantia Nigra	brain

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