Variant report

Variant	esv3473901
Chromosome Location	chr6:31023248-31023662
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:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30710166..30712547-chr6:31022395..31024749,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC22-1	chr6:31021984-31027653	XLOC_005243
2	lnc-MUC22-1	chr6:31023487-31024687	NONHSAT108710
3	lnc-MUC22-1	chr6:31023487-31024251	ENSG00000228789.2
4	lnc-MUC22-1	chr6:31023487-31024687	ENSG00000228789
5	lnc-MUC22-1	chr6:31023589-31023778	ENSG00000228789.2

No data

Variant related genes	Relation type
ENSG00000272273	chromatin interactions
ENSG00000137331	chromatin interactions
ENSG00000137312	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182729775	chr6:31023250-31023251	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
2	rs200308424	chr6:31023262-31023263	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs566975287	chr6:31023418-31023419	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs373611095	chr6:31023426-31023427	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs534096507	chr6:31023468-31023469	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs555981526	chr6:31023471-31023472	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs187914233	chr6:31023472-31023473	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs544916984	chr6:31023487-31023488	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs190880192	chr6:31023496-31023497	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs72847064	chr6:31023503-31023504	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs563991329	chr6:31023604-31023605	Weak transcription Enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs528175551	chr6:31023624-31023625	Weak transcription Enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs539969853	chr6:31023629-31023630	Weak transcription Enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs561544340	chr6:31023651-31023652	Weak transcription Enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs146025713	chr6:31023654-31023655	Weak transcription Enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs139184690	chr6:31023656-31023657	Weak transcription Enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

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

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31009600-31027400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:31022000-31023800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:31022200-31024600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:31022200-31024800	Weak transcription	Brain Germinal Matrix	brain
5	chr6:31022200-31025400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:31022200-31025400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:31022200-31025400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:31022200-31027000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:31022200-31050800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:31022400-31024200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:31022400-31024400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:31022400-31024800	Weak transcription	Brain Anterior Caudate	brain
13	chr6:31022400-31026600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:31022600-31026400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:31022600-31028200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:31022800-31026600	Enhancers	NHEK	skin
17	chr6:31023200-31023400	Enhancers	HSMMtube	muscle
18	chr6:31023200-31027600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr6:31023200-31028200	Enhancers	HMEC	breast
20	chr6:31023600-31024000	Active TSS	Esophagus	oesophagus
21	chr6:31023600-31024600	Weak transcription	HSMMtube	muscle

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