Variant report

Variant	esv33427
Chromosome Location	chr6:109751457-109752209
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:109747081..109748999-chr6:109749255..109751645,2	MCF-7	breast:
2	chr6:109752135..109753752-chr6:109773019..109775063,2	K562	blood:
3	chr6:109747606..109757389-chr6:109757828..109761794,11	K562	blood:
4	chr6:109750853..109754544-chr6:109754754..109757262,3	MCF-7	breast:
5	chr6:109750346..109753133-chr6:109776216..109778124,3	K562	blood:

Variant related genes	Relation type
ENSG00000185250	chromatin interactions
ENSG00000135596	chromatin interactions
ENSG00000239160	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576304844	chr6:109751480-109751481	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs9487103	chr6:109751495-109751496	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs555531067	chr6:109751507-109751508	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs374996031	chr6:109751525-109751526	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs9480957	chr6:109751601-109751602	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs34630059	chr6:109751633-109751634	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs540772428	chr6:109751636-109751637	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs564180714	chr6:109751643-109751644	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs397886191	chr6:109751649-109751650	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs142514987	chr6:109751654-109751655	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs146837287	chr6:109751692-109751693	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs563605717	chr6:109751698-109751699	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs566747020	chr6:109751778-109751779	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs151316962	chr6:109751789-109751790	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs549242302	chr6:109751798-109751799	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs559283363	chr6:109751806-109751807	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs528258913	chr6:109751821-109751822	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs547588962	chr6:109751822-109751823	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs540523362	chr6:109751829-109751830	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs570907467	chr6:109751830-109751831	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs188887454	chr6:109751849-109751850	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs80288277	chr6:109751850-109751851	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs75140889	chr6:109751851-109751852	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs560433667	chr6:109751858-109751859	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs549761268	chr6:109751877-109751878	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs373748805	chr6:109751918-109751919	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs570053409	chr6:109751949-109751950	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs62436107	chr6:109751963-109751964	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs150075692	chr6:109751982-109751983	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs77633195	chr6:109752049-109752050	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs572574890	chr6:109752109-109752110	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs535185208	chr6:109752113-109752114	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs9487104	chr6:109752158-109752159	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs181958595	chr6:109752173-109752174	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs543492749	chr6:109752207-109752208	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109707000-109755400	Weak transcription	Fetal Intestine Small	intestine
2	chr6:109721200-109760600	Weak transcription	Fetal Brain Female	brain
3	chr6:109725800-109760800	Weak transcription	Brain Anterior Caudate	brain
4	chr6:109736600-109760800	Weak transcription	Brain Angular Gyrus	brain
5	chr6:109740400-109754800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:109745600-109760800	Weak transcription	Gastric	stomach
7	chr6:109746000-109753400	Weak transcription	Pancreas	Pancrea
8	chr6:109749600-109753800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:109750600-109751600	Enhancers	Adipose Nuclei	Adipose
10	chr6:109750600-109752800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:109750800-109751600	Enhancers	NHEK	skin
12	chr6:109750800-109755000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:109750800-109760200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:109750800-109760400	Weak transcription	Ovary	ovary
15	chr6:109750800-109760800	Weak transcription	Brain Substantia Nigra	brain
16	chr6:109751000-109754600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:109751000-109760200	Weak transcription	Osteobl	bone
18	chr6:109751000-109760800	Weak transcription	Right Atrium	heart
19	chr6:109751200-109760400	Weak transcription	Fetal Muscle Leg	muscle
20	chr6:109751200-109761400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:109751400-109760800	Weak transcription	Fetal Stomach	stomach
22	chr6:109751600-109760400	Weak transcription	NHEK	skin

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