Variant report

Variant	esv3349979
Chromosome Location	chr6:27739754-27740303
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27740030..27740808-chr6:27759602..27760720,5	MCF-7	breast:
2	chr6:27739903..27740843-chr6:27759520..27760687,12	MCF-7	breast:
3	chr6:27739073..27741027-chr6:27745777..27747654,2	MCF-7	breast:
4	chr6:27738868..27742221-chr6:27743370..27745719,4	MCF-7	breast:
5	chr6:27113969..27118292-chr6:27739764..27746039,7	K562	blood:
6	chr6:27739947..27740882-chr6:27863320..27863903,2	MCF-7	breast:
7	chr6:27095110..27096779-chr6:27740302..27742676,2	K562	blood:
8	chr6:27739033..27741746-chr6:27859741..27864779,4	MCF-7	breast:
9	chr6:27734440..27736801-chr6:27737530..27740059,2	MCF-7	breast:
10	chr6:27739695..27740963-chr6:27759065..27761089,16	K562	blood:
11	chr6:27738620..27740539-chr6:27758419..27760190,2	MCF-7	breast:
12	chr6:27740046..27740698-chr6:27763330..27763891,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196331	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000265565	chromatin interactions
ENSG00000197903	chromatin interactions

Extended variants
information (count: 8 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538355110	chr6:27739755-27739756	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs540035457	chr6:27739951-27739952	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs72847322	chr6:27740054-27740055	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs79795072	chr6:27740110-27740111	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs191885830	chr6:27740188-27740189	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs62401406	chr6:27740220-27740221	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs564032135	chr6:27740254-27740255	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs760587	chr6:27740300-27740301	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:100)

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

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27725600-27743000	Weak transcription	Right Atrium	heart
2	chr6:27730600-27740000	Weak transcription	Spleen	Spleen
3	chr6:27730800-27740000	Weak transcription	Primary T cells from cord blood	blood
4	chr6:27738200-27740200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
5	chr6:27738600-27739800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:27738600-27739800	Enhancers	Fetal Intestine Large	intestine
7	chr6:27738600-27741600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr6:27738600-27742400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:27738800-27740000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
10	chr6:27738800-27740800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
11	chr6:27738800-27741800	Enhancers	Primary hematopoietic stem cells	blood
12	chr6:27739000-27739800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:27739000-27739800	Enhancers	Colonic Mucosa	Colon
14	chr6:27739000-27739800	Enhancers	Fetal Intestine Small	intestine
15	chr6:27739000-27739800	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr6:27739000-27740000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:27739000-27740000	Enhancers	K562	blood
18	chr6:27739000-27742000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr6:27739000-27742400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr6:27739000-27742400	Enhancers	Primary B cells from peripheral blood	blood
21	chr6:27739200-27742200	Enhancers	GM12878-XiMat	blood
22	chr6:27739400-27739800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
23	chr6:27739400-27739800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:27739400-27739800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
25	chr6:27739400-27739800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr6:27739400-27739800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:27739400-27740600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
28	chr6:27739400-27740800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:27739400-27741600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr6:27739600-27739800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:27739600-27739800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:27739600-27739800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:27739600-27739800	Enhancers	Duodenum Mucosa	Duodenum
34	chr6:27739600-27739800	Enhancers	HMEC	breast
35	chr6:27739600-27740000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
36	chr6:27739600-27740000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:27739600-27740000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:27739600-27740000	Flanking Active TSS	NHEK	skin
39	chr6:27739600-27740200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
40	chr6:27739600-27740200	Enhancers	Dnd41	blood
41	chr6:27739600-27740400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:27739600-27740400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
43	chr6:27739800-27740000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
44	chr6:27739800-27740000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:27739800-27740000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:27739800-27740000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr6:27739800-27740000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:27739800-27740000	Bivalent Enhancer	Brain Germinal Matrix	brain
49	chr6:27739800-27740000	Bivalent Enhancer	Fetal Heart	heart
50	chr6:27739800-27740000	Enhancers	Hela-S3	cervix

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