Variant report

Variant	esv2644444
Chromosome Location	chr6:27198804-27198805
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:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:27197426..27201736-chr6:27203200..27207154,7	K562	blood:
2	chr6:27196755..27199547-chr6:27440103..27442239,2	K562	blood:
3	chr6:27197041..27202373-chr6:27261458..27267425,7	K562	blood:
4	chr6:27192383..27194653-chr6:27197243..27199028,2	MCF-7	breast:
5	chr6:27198091..27199769-chr6:27253992..27255811,2	K562	blood:
6	chr6:27114077..27118449-chr6:27196059..27200185,5	K562	blood:
7	chr6:27129888..27131649-chr6:27195657..27199036,3	K562	blood:
8	chr6:27192498..27195500-chr6:27198039..27200217,4	K562	blood:
9	chr6:27196971..27199808-chr6:27204338..27205850,2	MCF-7	breast:
10	chr6:27100701..27102362-chr6:27197500..27199646,2	K562	blood:
11	chr6:27198224..27199922-chr6:27229756..27232749,2	K562	blood:
12	chr6:27198348..27200537-chr6:27219109..27221018,2	MCF-7	breast:
13	chr6:27198164..27199852-chr6:27213905..27216503,2	K562	blood:
14	chr6:27198724..27201024-chr6:27252053..27253598,2	K562	blood:
15	chr6:27195411..27200167-chr6:27200252..27206108,10	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POM121L2-1	chr6:27198606-27199041	expReg_chr6_1853_-

No data

Variant related genes	Relation type
ENSG00000196787	chromatin interactions
ENSG00000096654	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000112812	chromatin interactions
ENSG00000265565	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 101 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112713065	chr6:27198804-27198805	Active TSS Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	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
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
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27196200-27199800	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr6:27196800-27199600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr6:27196800-27200200	Active TSS	A549	lung
4	chr6:27197000-27199200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:27197000-27199400	Active TSS	H1 Cell Line	embryonic stem cell
6	chr6:27197000-27199600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:27197000-27199600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:27197000-27200400	Active TSS	K562	blood
9	chr6:27197200-27199000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:27197200-27199000	Active TSS	NHEK	skin
11	chr6:27197200-27199200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:27197200-27199400	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr6:27197200-27199400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:27197400-27199000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:27197400-27199400	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr6:27197400-27199400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:27197400-27199600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr6:27197400-27199600	Active TSS	Placenta	Placenta
19	chr6:27197400-27199800	Active TSS	H9 Cell Line	embryonic stem cell
20	chr6:27197600-27199400	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr6:27198000-27199200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:27198200-27199800	Active TSS	Hela-S3	cervix
23	chr6:27198400-27199600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr6:27198600-27199000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:27198800-27199000	Active TSS	HepG2	liver
26	chr6:27198800-27202600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:27198800-27202600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:27198800-27202600	Weak transcription	GM12878-XiMat	blood
29	chr6:27198800-27202600	Weak transcription	HMEC	breast
30	chr6:27198800-27203000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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