Variant report

Variant	nsv972907
Chromosome Location	chr11:8057411-8061563
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:428)
Chromatin interactive
region (count:7)
LncRNA
region (count:4)
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	chr11:8057300-8057450	HEK293	kidney:	n/a	n/a
2	CTCF	chr11:8057380-8057530	NHEK	skin:	n/a	n/a
3	CTCF	chr11:8058280-8058430	HepG2	liver:	n/a	chr11:8058332-8058341
4	CTCF	chr11:8058260-8058410	SK-N-SH_RA	brain:	n/a	chr11:8058332-8058341
5	CTCF	chr11:8058300-8058450	HMF	breast:	n/a	chr11:8058332-8058341
6	CTCF	chr11:8058100-8058250	GM12871	blood:	n/a	n/a
7	CTCF	chr11:8058320-8058470	GM12872	blood:	n/a	chr11:8058332-8058341
8	EGR1	chr11:8061156-8061447	K562	blood:	n/a	chr11:8061302-8061315
9	EGR1	chr11:8061208-8061459	K562	blood:	n/a	chr11:8061302-8061315
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:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:8060060-8060110	HMEC	breast:	n/a
2	chr11:8060060-8060110	HMEC	breast:	n/a
3	chr11:8060124-8060174	IMR90	lung:	fetal
4	chr11:8060332-8060382	Caco-2	colon:	n/a
5	chr11:8060332-8060382	IMR90	lung:	fetal
6	chr11:8058727-8058777	HUVEC	blood vessel:	n/a
7	chr11:8060223-8060273	HUVEC	blood vessel:	n/a
8	chr11:8060332-8060382	SK-N-SH	brain:	n/a
9	chr11:8060031-8060081	MCF10A-Er-Src	breast:	n/a
10	chr11:8060124-8060174	PFSK-1	brain:	n/a
11	chr11:8060031-8060081	NHDF-neo	bronchial:	n/a
12	chr11:8060468-8060518	Jurkat	blood:	n/a
13	chr11:8060031-8060081	PrEC	prostate:	n/a
14	chr11:8060468-8060518	PrEC	prostate:	n/a
15	chr11:8060031-8060081	PFSK-1	brain:	n/a
16	chr11:8060468-8060518	HRPEpiC	eye:	n/a
17	chr11:8060060-8060110	BJ	skin:	n/a
18	chr11:8060031-8060081	ECC-1	luminal epithelium:	n/a
19	chr11:8060468-8060518	IMR90	lung:	fetal
20	chr11:8060124-8060174	Hepatocyte	liver:	n/a
21	chr11:8060223-8060273	HCM	heart:	n/a
22	chr11:8060223-8060273	SK-N-MC	brain:	n/a
23	chr11:8060223-8060273	AoSMC	blood vessel:	n/a
24	chr11:8060031-8060081	HPAEpiC	pulmonary alveolar:	n/a
25	chr11:8058727-8058777	MCF10A-Er-Src	breast:	n/a
26	chr11:8060223-8060273	Caco-2	colon:	n/a
27	chr11:8060060-8060110	AG10803	skin:	n/a
28	chr11:8058727-8058777	U87	brain:	n/a
29	chr11:8060223-8060273	NHBE	bronchial:	n/a
30	chr11:8060060-8060110	Hepatocyte	liver:	n/a
31	chr11:8060060-8060110	HEK293	kidney:	embryo
32	chr11:8060031-8060081	HEEpiC	esophagus:	n/a
33	chr11:8060124-8060174	SAEC	small airway:	n/a
34	chr11:8060060-8060110	GM12878	blood:	n/a
35	chr11:8060332-8060382	MCF-7	breast:	n/a
36	chr11:8058727-8058777	SK-N-SH_RA	brain:	n/a
37	chr11:8058727-8058777	RPTEC	kidney:	n/a
38	chr11:8058727-8058777	IMR90	lung:	fetal
39	chr11:8060124-8060174	K562	blood:	n/a
40	chr11:8058727-8058777	LNCaP	prostate:	n/a
41	chr11:8060060-8060110	HAEpiC	amniotic membrane:	n/a
42	chr11:8060332-8060382	GM19239	blood:	n/a
43	chr11:8058727-8058777	HCPEpiC	choroid plexus:	n/a
44	chr11:8060031-8060081	HRCEpiC	kidney:	n/a
45	chr11:8060468-8060518	SK-N-SH	brain:	n/a
46	chr11:8060223-8060273	PFSK-1	brain:	n/a
47	chr11:8060468-8060518	Hela-S3	cervix:	n/a
48	chr11:8060332-8060382	AG09309	skin:	n/a
49	chr11:8060468-8060518	HEK293	kidney:	embryo
50	chr11:8060332-8060382	SAEC	small airway:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8057890..8059708-chr11:8065054..8067392,2	K562	blood:
2	chr11:8011622..8013297-chr11:8056375..8059181,2	K562	blood:
3	chr11:8050565..8052197-chr11:8055086..8058020,2	MCF-7	breast:
4	chr11:8047756..8050115-chr11:8056077..8058244,2	MCF-7	breast:
5	chr11:8061407..8063255-chr11:8084785..8086285,2	K562	blood:
6	chr11:8055622..8058095-chr11:8058750..8061229,2	K562	blood:
7	chr11:8055622..8058575-chr11:8058750..8061293,2	K562	blood:

(count:4 , 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
3	lnc-RIC3-1	chr11:8061064-8061246	ENSG00000254921.1
4	lnc-RIC3-1	chr11:8061064-8061265	ENSG00000254921.1

No data

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

Extended variants
information (count: 219 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:219 , 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	rs529780155	chr11:8057437-8057438	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
2	rs549639008	chr11:8057455-8057456	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs569887438	chr11:8057467-8057468	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs74647705	chr11:8057491-8057492	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs558786895	chr11:8057501-8057502	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs566037207	chr11:8057509-8057510	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs185698726	chr11:8057511-8057512	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs554941724	chr11:8057543-8057544	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs574777439	chr11:8057563-8057564	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs188547228	chr11:8057579-8057580	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs557188181	chr11:8057582-8057583	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs558838683	chr11:8057590-8057591	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs537348320	chr11:8057604-8057605	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs576261901	chr11:8057638-8057639	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs545226491	chr11:8057697-8057698	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs565121498	chr11:8057712-8057713	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs112140650	chr11:8057714-8057715	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs150776626	chr11:8057735-8057736	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs566822430	chr11:8057759-8057760	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs146736164	chr11:8057780-8057781	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs370151664	chr11:8057781-8057782	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs76880929	chr11:8057801-8057802	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs560916669	chr11:8057806-8057807	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs529679074	chr11:8057853-8057854	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs549814093	chr11:8057883-8057884	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs569422289	chr11:8057894-8057895	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs532523756	chr11:8057896-8057897	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs552351681	chr11:8057938-8057939	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs76056650	chr11:8057975-8057976	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs565975514	chr11:8057992-8057993	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs535314713	chr11:8058011-8058012	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs181088326	chr11:8058023-8058024	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs12416828	chr11:8058030-8058031	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537058161	chr11:8058096-8058097	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs557442559	chr11:8058131-8058132	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs577411044	chr11:8058199-8058200	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs377148079	chr11:8058269-8058270	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs546358219	chr11:8058322-8058323	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs376544581	chr11:8058325-8058326	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs138011349	chr11:8058326-8058327	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs112405094	chr11:8058341-8058342	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs561042534	chr11:8058342-8058343	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs529651629	chr11:8058362-8058363	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs12271874	chr11:8058366-8058367	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs562992698	chr11:8058386-8058387	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs532070894	chr11:8058388-8058389	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs190969304	chr11:8058415-8058416	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs559500717	chr11:8058423-8058424	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs528692075	chr11:8058437-8058438	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs182223813	chr11:8058448-8058449	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8054200-8057800	Enhancers	Fetal Heart	heart
2	chr11:8054600-8057600	Enhancers	Fetal Brain Male	brain
3	chr11:8054600-8057600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr11:8054600-8057800	Enhancers	Fetal Intestine Large	intestine
5	chr11:8054600-8058000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr11:8055200-8057600	Enhancers	Duodenum Mucosa	Duodenum
7	chr11:8055200-8058000	Enhancers	Adipose Nuclei	Adipose
8	chr11:8055200-8059600	Weak transcription	Brain Angular Gyrus	brain
9	chr11:8055400-8059400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:8055400-8059600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:8055400-8059600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:8055800-8059600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:8055800-8060000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:8056200-8057800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:8056200-8058000	Enhancers	Left Ventricle	heart
16	chr11:8056200-8059400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:8056400-8057600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:8056600-8059200	Weak transcription	Brain Anterior Caudate	brain
19	chr11:8056800-8057600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:8056800-8061400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:8057000-8057600	Enhancers	Esophagus	oesophagus
22	chr11:8057000-8057600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr11:8057000-8058000	Enhancers	Ovary	ovary
24	chr11:8057000-8058200	Enhancers	Right Ventricle	heart
25	chr11:8057000-8059800	Weak transcription	Fetal Brain Female	brain
26	chr11:8057200-8059200	Weak transcription	Brain Germinal Matrix	brain
27	chr11:8057400-8057800	Enhancers	Fetal Thymus	thymus
28	chr11:8057400-8058600	Weak transcription	Right Atrium	heart
29	chr11:8057600-8059400	Weak transcription	Fetal Brain Male	brain
30	chr11:8058000-8067400	Weak transcription	Left Ventricle	heart
31	chr11:8058200-8060800	Weak transcription	Right Ventricle	heart
32	chr11:8058600-8059000	Enhancers	Right Atrium	heart
33	chr11:8059200-8059800	Enhancers	Brain Anterior Caudate	brain
34	chr11:8059200-8061000	Enhancers	Brain Germinal Matrix	brain
35	chr11:8059400-8061000	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr11:8059400-8061200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:8059400-8061400	Enhancers	Fetal Brain Male	brain
38	chr11:8059600-8059800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:8059600-8060000	Enhancers	Brain Cingulate Gyrus	brain
40	chr11:8059600-8060800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:8059600-8060800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr11:8059600-8061200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:8059600-8061600	Enhancers	Brain Angular Gyrus	brain
44	chr11:8059800-8060000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:8059800-8060000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:8059800-8060400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:8059800-8060400	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr11:8059800-8060800	Enhancers	Fetal Brain Female	brain
49	chr11:8060000-8060200	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr11:8060000-8060400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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