Variant report

Variant	esv2182271
Chromosome Location	chr6:28350500-28350965
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28302793..28305456-chr6:28347856..28351806,3	MCF-7	breast:
2	chr6:28189695..28193201-chr6:28349960..28353387,4	K562	blood:
3	chr6:28189695..28192033-chr6:28349571..28352462,4	K562	blood:
4	chr6:28187278..28189645-chr6:28349848..28351599,2	K562	blood:
5	chr6:28349465..28351465-chr6:28394048..28396108,2	MCF-7	breast:
6	chr6:28316530..28318158-chr6:28350135..28352700,2	K562	blood:
7	chr6:28302573..28306599-chr6:28349951..28354470,6	K562	blood:
8	chr6:28336816..28339223-chr6:28349568..28351639,2	MCF-7	breast:
9	chr6:28302507..28305351-chr6:28350132..28351669,2	K562	blood:
10	chr6:27858275..27861219-chr6:28349730..28352798,3	MCF-7	breast:
11	chr6:28346545..28348363-chr6:28349584..28351262,2	MCF-7	breast:
12	chr6:28042414..28044265-chr6:28350613..28353294,2	K562	blood:
13	chr6:28098221..28099883-chr6:28348918..28351398,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000189298	chromatin interactions
ENSG00000196331	chromatin interactions
ENSG00000235109	chromatin interactions
ENSG00000137185	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000197153	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536207391	chr6:28350538-28350539	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs534323283	chr6:28350569-28350570	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs9654587	chr6:28350576-28350577	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530162280	chr6:28350591-28350592	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs538881496	chr6:28350596-28350597	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs547744581	chr6:28350620-28350621	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs558442443	chr6:28350624-28350625	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs73742556	chr6:28350626-28350627	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542311669	chr6:28350660-28350661	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs377149546	chr6:28350667-28350668	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs61281011	chr6:28350700-28350701	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs376874208	chr6:28350713-28350714	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs369552368	chr6:28350741-28350742	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs147228701	chr6:28350743-28350744	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs542573859	chr6:28350765-28350766	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs28505234	chr6:28350772-28350773	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs558633852	chr6:28350773-28350774	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs140693192	chr6:28350816-28350817	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs113578483	chr6:28350869-28350870	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs545612121	chr6:28350882-28350883	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs113166629	chr6:28350907-28350908	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs398110011	chr6:28350910-28350911	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs2859360	chr6:28350914-28350915	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:104)

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
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
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
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
Bipolar disorder	19114987	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:235 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28318400-28350800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:28324400-28357200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:28324400-28357600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:28324600-28358600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr6:28325400-28350800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:28332000-28350600	Weak transcription	Psoas Muscle	Psoas
7	chr6:28333800-28350800	Weak transcription	Lung	lung
8	chr6:28333800-28351000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:28334000-28350600	Weak transcription	Colonic Mucosa	Colon
10	chr6:28334000-28350800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:28334200-28351000	Weak transcription	Gastric	stomach
12	chr6:28334200-28351200	Weak transcription	Spleen	Spleen
13	chr6:28334400-28350600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:28334400-28351000	Weak transcription	Esophagus	oesophagus
15	chr6:28334600-28351000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:28344800-28350800	Weak transcription	Small Intestine	intestine
17	chr6:28345000-28361600	Strong transcription	Dnd41	blood
18	chr6:28345600-28350600	Strong transcription	Brain Germinal Matrix	brain
19	chr6:28346200-28350600	Weak transcription	Fetal Stomach	stomach
20	chr6:28347200-28350600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr6:28347200-28350800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:28347400-28350600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr6:28347600-28350600	Strong transcription	Primary T cells from cord blood	blood
24	chr6:28348000-28350600	Genic enhancers	HepG2	liver
25	chr6:28348200-28350600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:28348400-28350800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr6:28348400-28351000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:28348400-28357800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:28348600-28350600	Weak transcription	Adipose Nuclei	Adipose
30	chr6:28348600-28350600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr6:28348600-28350800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:28348600-28350800	Weak transcription	Fetal Brain Male	brain
33	chr6:28348600-28350800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr6:28348600-28350800	Weak transcription	NHDF-Ad	bronchial
35	chr6:28348600-28351000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:28348600-28351000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr6:28348800-28350600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:28348800-28350600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr6:28348800-28350600	Weak transcription	HUVEC	blood vessel
40	chr6:28348800-28350800	Weak transcription	Brain Angular Gyrus	brain
41	chr6:28348800-28350800	Weak transcription	Brain Substantia Nigra	brain
42	chr6:28348800-28350800	Weak transcription	Thymus	Thymus
43	chr6:28348800-28351000	Weak transcription	Placenta	Placenta
44	chr6:28349000-28350600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr6:28349400-28350600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:28349400-28350600	Enhancers	Fetal Heart	heart
47	chr6:28349400-28350800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:28349800-28350600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr6:28349800-28350800	Enhancers	Colon Smooth Muscle	Colon
50	chr6:28350000-28350600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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