Variant report

Variant	nsv983216
Chromosome Location	chr11:8056182-8060154
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:244)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:8058280-8058430	HepG2	liver:	n/a	chr11:8058332-8058341
2	CTCF	chr11:8057300-8057450	HEK293	kidney:	n/a	n/a
3	CTCF	chr11:8058320-8058470	GM12872	blood:	n/a	chr11:8058332-8058341
4	CTCF	chr11:8057260-8057410	Caco-2	colon:	n/a	n/a
5	CTCF	chr11:8057240-8057390	HMEC	breast:	n/a	n/a
6	CTCF	chr11:8058300-8058450	HMF	breast:	n/a	chr11:8058332-8058341
7	CTCF	chr11:8058100-8058250	GM12871	blood:	n/a	n/a
8	CTCF	chr11:8057380-8057530	NHEK	skin:	n/a	n/a
9	CTCF	chr11:8058260-8058410	SK-N-SH_RA	brain:	n/a	chr11:8058332-8058341
10	MAX	chr11:8060000-8060289	H1-hESC	embryonic stem cell:	n/a	chr11:8060131-8060140 chr11:8060127-8060136
11	POLR2A	chr11:8059786-8060534	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr11:8059762-8060475	H1-neurons	neurons:	n/a	n/a
13	RCOR1	chr11:8059985-8060216	K562	blood:	n/a	n/a
14	REST	chr11:8059515-8060811	H1-neurons	neurons:	n/a	n/a
15	ZNF263	chr11:8057260-8057573	HEK293-T-REx	kidney:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:8060060-8060110	HMEC	breast:	n/a
2	chr11:8060060-8060110	SAEC	small airway:	n/a
3	chr11:8060124-8060174	U87	brain:	n/a
4	chr11:8060124-8060174	HAEpiC	amniotic membrane:	n/a
5	chr11:8058727-8058777	SKMC	muscle:	n/a
6	chr11:8060031-8060081	GM19239	blood:	n/a
7	chr11:8060031-8060081	HCM	heart:	n/a
8	chr11:8060124-8060174	A549	lung:	n/a
9	chr11:8060060-8060110	HRE	kidney:	n/a
10	chr11:8058727-8058777	HRE	kidney:	n/a
11	chr11:8060124-8060174	H1-hESC	embryonic stem cell:	embryo
12	chr11:8060031-8060081	SK-N-MC	brain:	n/a
13	chr11:8058727-8058777	CMK	blood:	n/a
14	chr11:8058727-8058777	HPAEpiC	pulmonary alveolar:	n/a
15	chr11:8058727-8058777	SK-N-MC	brain:	n/a
16	chr11:8060124-8060174	SKMC	muscle:	n/a
17	chr11:8058727-8058777	HMEC	breast:	n/a
18	chr11:8058727-8058777	U87	brain:	n/a
19	chr11:8060124-8060174	GM12878	blood:	n/a
20	chr11:8060124-8060174	AoSMC	blood vessel:	n/a
21	chr11:8058727-8058777	NH-A	brain:	n/a
22	chr11:8060031-8060081	U87	brain:	n/a
23	chr11:8060031-8060081	HAEpiC	amniotic membrane:	n/a
24	chr11:8060124-8060174	ovcar-3	ovarian:	n/a
25	chr11:8060031-8060081	SAEC	small airway:	n/a
26	chr11:8060124-8060174	PFSK-1	brain:	n/a
27	chr11:8060124-8060174	T-47D	breast:	n/a
28	chr11:8060031-8060081	HEK293	kidney:	embryo
29	chr11:8060124-8060174	AG10803	skin:	n/a
30	chr11:8060060-8060110	GM12878	blood:	n/a
31	chr11:8058727-8058777	AG09319	gingival:	n/a
32	chr11:8060124-8060174	NT2-D1	testis:	n/a
33	chr11:8060031-8060081	PrEC	prostate:	n/a
34	chr11:8060060-8060110	PANC-1	pancreas:	n/a
35	chr11:8060031-8060081	PANC-1	pancreas:	n/a
36	chr11:8060060-8060110	HCPEpiC	choroid plexus:	n/a
37	chr11:8060124-8060174	AG04450	lung:	fetal
38	chr11:8060031-8060081	HEEpiC	esophagus:	n/a
39	chr11:8060031-8060081	AG09309	skin:	n/a
40	chr11:8060124-8060174	AG09309	skin:	n/a
41	chr11:8060124-8060174	HL-60	blood:	n/a
42	chr11:8060124-8060174	HIPEpiC	eye:	n/a
43	chr11:8060060-8060110	HIPEpiC	eye:	n/a
44	chr11:8060060-8060110	HAEpiC	amniotic membrane:	n/a
45	chr11:8060060-8060110	SKMC	muscle:	n/a
46	chr11:8060124-8060174	Hepatocyte	liver:	n/a
47	chr11:8060124-8060174	HMEC	breast:	n/a
48	chr11:8060031-8060081	Jurkat	blood:	n/a
49	chr11:8060031-8060081	RPTEC	kidney:	n/a
50	chr11:8060124-8060174	NHDF-neo	bronchial:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8057890..8059708-chr11:8065054..8067392,2	K562	blood:
2	chr11:8055622..8058095-chr11:8058750..8061229,2	K562	blood:
3	chr11:8050565..8052197-chr11:8055086..8058020,2	MCF-7	breast:
4	chr11:8055622..8058575-chr11:8058750..8061293,2	K562	blood:
5	chr11:8011622..8013297-chr11:8056375..8059181,2	K562	blood:
6	chr11:8047756..8050115-chr11:8056077..8058244,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RIC3-1	chr11:8060136-8060549	ENSG00000254921.1
2	lnc-RIC3-1	chr11:8056993-8057605	ENSG00000254921.1

No data

Variant related genes	Relation type
TUB	TF binding region
TUB	CpG island
ENSG00000166402	chromatin interactions
ENSG00000254921	chromatin interactions

Extended variants
information (count: 179 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545004218	chr11:8056260-8056261	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs187127683	chr11:8056279-8056280	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs35842426	chr11:8056280-8056281	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs191647732	chr11:8056281-8056282	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs547519306	chr11:8056304-8056305	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs148960798	chr11:8056332-8056333	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs543672964	chr11:8056344-8056345	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs183786011	chr11:8056349-8056350	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs76141197	chr11:8056375-8056376	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs569144193	chr11:8056376-8056377	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs16935204	chr11:8056386-8056387	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs551396149	chr11:8056395-8056396	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs189346692	chr11:8056405-8056406	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs140703774	chr11:8056440-8056441	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs533847865	chr11:8056442-8056443	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs193117116	chr11:8056450-8056451	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs574116108	chr11:8056484-8056485	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs562664769	chr11:8056533-8056534	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs114917093	chr11:8056536-8056537	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs79060805	chr11:8056541-8056542	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs369919108	chr11:8056544-8056545	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs16935207	chr11:8056546-8056547	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs185636853	chr11:8056556-8056557	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs564920360	chr11:8056570-8056571	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs376241609	chr11:8056582-8056583	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs190108457	chr11:8056584-8056585	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs148110952	chr11:8056625-8056626	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs79252990	chr11:8056626-8056627	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs561450957	chr11:8056627-8056628	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs529039866	chr11:8056657-8056658	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs549166134	chr11:8056703-8056704	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs77145614	chr11:8056715-8056716	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs531631326	chr11:8056731-8056732	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs10734628	chr11:8056748-8056749	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs561636254	chr11:8056763-8056764	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs4483583	chr11:8056779-8056780	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs202045622	chr11:8056785-8056786	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs2178152	chr11:8056799-8056800	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs570722206	chr11:8056846-8056847	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs375926268	chr11:8056875-8056876	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs115813594	chr11:8056910-8056911	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs55635402	chr11:8056913-8056914	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs75947662	chr11:8056953-8056954	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs144964018	chr11:8056961-8056962	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs181502399	chr11:8057017-8057018	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs569307148	chr11:8057112-8057113	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs566067542	chr11:8057164-8057165	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs558844570	chr11:8057190-8057191	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs572076133	chr11:8057246-8057247	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs16935218	chr11:8057249-8057250	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

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
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8054200-8057800	Enhancers	Fetal Heart	heart
2	chr11:8054400-8056200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:8054400-8057200	Enhancers	Fetal Intestine Small	intestine
4	chr11:8054600-8056600	Enhancers	Brain Anterior Caudate	brain
5	chr11:8054600-8057000	Enhancers	Fetal Brain Female	brain
6	chr11:8054600-8057600	Enhancers	Fetal Brain Male	brain
7	chr11:8054600-8057600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr11:8054600-8057800	Enhancers	Fetal Intestine Large	intestine
9	chr11:8054600-8058000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr11:8054800-8057200	Enhancers	Brain Germinal Matrix	brain
11	chr11:8055000-8057400	Enhancers	Fetal Stomach	stomach
12	chr11:8055200-8056200	Weak transcription	Left Ventricle	heart
13	chr11:8055200-8056800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:8055200-8057600	Enhancers	Duodenum Mucosa	Duodenum
15	chr11:8055200-8058000	Enhancers	Adipose Nuclei	Adipose
16	chr11:8055200-8059600	Weak transcription	Brain Angular Gyrus	brain
17	chr11:8055400-8056200	Weak transcription	Right Atrium	heart
18	chr11:8055400-8056400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:8055400-8056400	Weak transcription	Esophagus	oesophagus
20	chr11:8055400-8056800	Weak transcription	Fetal Lung	lung
21	chr11:8055400-8057000	Weak transcription	Ovary	ovary
22	chr11:8055400-8059400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:8055400-8059600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:8055400-8059600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr11:8055600-8056800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:8055800-8057000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:8055800-8057400	Weak transcription	Fetal Thymus	thymus
28	chr11:8055800-8059600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:8055800-8060000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:8056000-8056200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:8056000-8057000	Weak transcription	Right Ventricle	heart
32	chr11:8056200-8057400	Enhancers	Right Atrium	heart
33	chr11:8056200-8057800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:8056200-8058000	Enhancers	Left Ventricle	heart
35	chr11:8056200-8059400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:8056400-8056600	Enhancers	Esophagus	oesophagus
37	chr11:8056400-8057600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:8056600-8057000	Weak transcription	Esophagus	oesophagus
39	chr11:8056600-8059200	Weak transcription	Brain Anterior Caudate	brain
40	chr11:8056800-8057400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:8056800-8057600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:8056800-8061400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:8057000-8057200	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr11:8057000-8057200	Enhancers	Fetal Lung	lung
45	chr11:8057000-8057400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:8057000-8057400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:8057000-8057400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:8057000-8057400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr11:8057000-8057400	Enhancers	Fetal Muscle Leg	muscle
50	chr11:8057000-8057600	Enhancers	Esophagus	oesophagus

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