Variant report

Variant	nsv884133
Chromosome Location	chr6:31024673-31036148
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:17)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31025808..31026599-chr6:31047303..31047806,2	MCF-7	breast:
2	chr6:30906546..30909468-chr6:31036144..31038096,2	K562	blood:
3	chr6:31018538..31021131-chr6:31024335..31025981,2	K562	blood:
4	chr6:30852059..30854208-chr6:31023741..31026311,2	MCF-7	breast:
5	chr6:30880976..30884128-chr6:31034595..31037027,3	MCF-7	breast:
6	chr6:31025998..31026666-chr6:31047275..31048136,2	K562	blood:
7	chr6:30710754..30713406-chr6:31035181..31039052,3	MCF-7	breast:
8	chr6:31026121..31026747-chr6:31038216..31039119,3	MCF-7	breast:
9	chr6:30710166..30712547-chr6:31022395..31024749,2	MCF-7	breast:
10	chr6:30883366..30884420-chr6:31026193..31027023,3	MCF-7	breast:
11	chr6:31020716..31023487-chr6:31028398..31030708,2	K562	blood:
12	chr6:31010860..31013816-chr6:31025922..31027807,2	K562	blood:
13	chr6:31027525..31029714-chr6:31040492..31042279,2	K562	blood:
14	chr6:30920933..30923487-chr6:31026519..31028176,2	K562	blood:
15	chr6:31010707..31012864-chr6:31028593..31030504,2	MCF-7	breast:
16	chr6:30580660..30582853-chr6:31029562..31031362,2	K562	blood:
17	chr6:30852224..30854652-chr6:31035119..31038739,4	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC22-1	chr6:31027185-31027626	NONHSAT108711
2	lnc-MUC22-1	chr6:31023487-31024687	NONHSAT108710
3	lnc-MUC22-1	chr6:31027185-31027667	ENSG00000228789.2
4	lnc-MUC22-1	chr6:31023487-31024687	ENSG00000228789
5	lnc-MUC22-1	chr6:31021984-31027653	XLOC_005243
6	lnc-MUC22-1	chr6:31027185-31027434	ENSG00000228789.2
7	lnc-MUC22-1	chr6:31027185-31027653	ENSG00000228789
8	lnc-MUC22-1	chr6:31027185-31027655	NONHSAT108710
9	lnc-MUC22-1	chr6:31023995-31024687	ENSG00000228789.2

No data

Variant related genes	Relation type
ENSG00000272273	chromatin interactions
ENSG00000204580	chromatin interactions
ENSG00000137411	chromatin interactions
ENSG00000233529	chromatin interactions
ENSG00000137312	chromatin interactions
ENSG00000168631	chromatin interactions
ENSG00000137331	chromatin interactions
ENSG00000228789	chromatin interactions

Extended variants
information (count: 506 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:506 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201043862	chr6:31024708-31024709	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
2	rs74558248	chr6:31024710-31024711	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs201984848	chr6:31024712-31024713	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs573415210	chr6:31024725-31024726	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
5	rs2523850	chr6:31024748-31024749	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs187441087	chr6:31024749-31024750	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs545278821	chr6:31024757-31024758	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs115731696	chr6:31024762-31024763	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs3131788	chr6:31024796-31024797	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs80072197	chr6:31024895-31024896	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs567834783	chr6:31024951-31024952	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs531818737	chr6:31024962-31024963	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs550056511	chr6:31024991-31024992	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs144899411	chr6:31025040-31025041	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs2523849	chr6:31025051-31025052	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs548025415	chr6:31025059-31025060	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs566051521	chr6:31025072-31025073	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs2523848	chr6:31025104-31025105	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs138744132	chr6:31025109-31025110	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs573327744	chr6:31025234-31025235	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs370554412	chr6:31025331-31025332	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs375708866	chr6:31025347-31025348	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs373452354	chr6:31025360-31025361	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs2517525	chr6:31025361-31025362	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs572354827	chr6:31025407-31025408	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs542972409	chr6:31025434-31025435	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs561264939	chr6:31025439-31025440	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs192975109	chr6:31025460-31025461	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs184829299	chr6:31025469-31025470	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs565241022	chr6:31025472-31025473	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs369109465	chr6:31025478-31025479	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs149352849	chr6:31025490-31025491	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs576238484	chr6:31025555-31025556	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs188148475	chr6:31025559-31025560	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs144700887	chr6:31025574-31025575	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs548516226	chr6:31025576-31025577	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs368303156	chr6:31025590-31025591	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs566912849	chr6:31025593-31025594	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs192332257	chr6:31025626-31025627	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs556177226	chr6:31025632-31025633	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs543632667	chr6:31025651-31025652	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs571271642	chr6:31025670-31025671	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs183482672	chr6:31025679-31025680	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs2517524	chr6:31025713-31025714	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs189479961	chr6:31025759-31025760	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs542935575	chr6:31025760-31025761	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs577758153	chr6:31025786-31025787	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs554914260	chr6:31025820-31025821	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs565344081	chr6:31025916-31025917	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs62401701	chr6:31025949-31025950	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	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	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31009600-31027400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:31022200-31024800	Weak transcription	Brain Germinal Matrix	brain
3	chr6:31022200-31025400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:31022200-31025400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr6:31022200-31025400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:31022200-31027000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:31022200-31050800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:31022400-31024800	Weak transcription	Brain Anterior Caudate	brain
9	chr6:31022400-31026600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:31022600-31026400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:31022600-31028200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:31022800-31026600	Enhancers	NHEK	skin
13	chr6:31023200-31027600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr6:31023200-31028200	Enhancers	HMEC	breast
15	chr6:31023800-31027200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:31024200-31026600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:31024400-31025000	Flanking Active TSS	Esophagus	oesophagus
18	chr6:31024400-31025200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr6:31024400-31027200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr6:31024600-31024800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:31024600-31025600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:31024600-31025800	Enhancers	Hela-S3	cervix
23	chr6:31024600-31026200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr6:31024600-31026600	Enhancers	HSMMtube	muscle
25	chr6:31024600-31026600	Enhancers	NHDF-Ad	bronchial
26	chr6:31024600-31027600	Enhancers	Brain Substantia Nigra	brain
27	chr6:31024800-31025200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:31024800-31025600	Enhancers	NH-A	brain
29	chr6:31024800-31025800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr6:31024800-31026000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:31024800-31026000	Enhancers	Brain Germinal Matrix	brain
32	chr6:31024800-31026000	Enhancers	Pancreas	Pancrea
33	chr6:31024800-31026200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr6:31024800-31026400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:31024800-31026400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:31024800-31026400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr6:31024800-31026600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:31024800-31026600	Enhancers	HSMM	muscle
39	chr6:31024800-31026600	Enhancers	NHLF	lung
40	chr6:31024800-31026600	Enhancers	Osteobl	bone
41	chr6:31024800-31027600	Enhancers	Brain Anterior Caudate	brain
42	chr6:31025000-31025600	Active TSS	Esophagus	oesophagus
43	chr6:31025000-31026000	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr6:31025000-31026200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:31025000-31026600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:31025200-31025600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr6:31025200-31026000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:31025200-31026200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr6:31025200-31026200	Enhancers	Fetal Stomach	stomach
50	chr6:31025200-31026400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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