Variant report

Variant	esv19239
Chromosome Location	chr6:106769705-106770767
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:105929729..105932706-chr6:106769743..106771900,2	MCF-7	breast:
2	chr6:106755801..106758037-chr6:106770631..106772685,2	MCF-7	breast:
3	chr6:106768044..106771696-chr6:106771990..106774923,9	K562	blood:
4	chr6:106762509..106764610-chr6:106766451..106770169,4	K562	blood:
5	chr6:106758694..106760423-chr6:106769043..106771248,2	K562	blood:

Variant related genes	Relation type
ENSG00000057663	chromatin interactions

Extended variants
information (count: 36 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531406229	chr6:106769740-106769741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs548021814	chr6:106769766-106769767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs567898578	chr6:106769842-106769843	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs78247717	chr6:106769845-106769846	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs533862885	chr6:106769881-106769882	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554004645	chr6:106769908-106769909	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs570366087	chr6:106769961-106769962	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs559001785	chr6:106769967-106769968	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs541041024	chr6:106769973-106769974	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs201271861	chr6:106769988-106769989	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs142248278	chr6:106770003-106770004	Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576249327	chr6:106770005-106770006	Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs144432567	chr6:106770090-106770091	Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs376065697	chr6:106770095-106770096	Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs561107693	chr6:106770129-106770130	Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs541939938	chr6:106770156-106770157	Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs117941890	chr6:106770161-106770162	Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs151247406	chr6:106770174-106770175	Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs572657254	chr6:106770199-106770200	Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541384909	chr6:106770215-106770216	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564769241	chr6:106770244-106770245	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs529912540	chr6:106770504-106770505	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs2763222	chr6:106770555-106770556	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs2787512	chr6:106770560-106770561	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs186314154	chr6:106770579-106770580	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs533589617	chr6:106770581-106770582	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs372734301	chr6:106770585-106770586	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs139222489	chr6:106770607-106770608	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs368979074	chr6:106770610-106770611	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs2763221	chr6:106770668-106770669	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs527447550	chr6:106770679-106770680	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs547382131	chr6:106770698-106770699	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs606093	chr6:106770723-106770724	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs191205361	chr6:106770739-106770740	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539345828	chr6:106770753-106770754	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs551273472	chr6:106770763-106770764	Weak transcription Enhancers	Chromatin interactive region	1 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
Burkitt''s lymphoma	20823134	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106718000-106771600	Weak transcription	Fetal Brain Female	brain
2	chr6:106723000-106771800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr6:106734800-106771800	Weak transcription	Esophagus	oesophagus
4	chr6:106735200-106773000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:106740000-106771400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:106740000-106773000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:106740200-106771400	Weak transcription	Small Intestine	intestine
8	chr6:106741000-106772200	Weak transcription	Fetal Lung	lung
9	chr6:106741200-106771400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:106751800-106771400	Weak transcription	Brain Germinal Matrix	brain
11	chr6:106757800-106771600	Weak transcription	Spleen	Spleen
12	chr6:106758200-106771400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:106758200-106772000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:106758800-106771400	Weak transcription	Brain Anterior Caudate	brain
15	chr6:106759400-106771600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:106759400-106771600	Weak transcription	Brain Substantia Nigra	brain
17	chr6:106759600-106772000	Weak transcription	NHLF	lung
18	chr6:106760800-106771400	Weak transcription	Fetal Brain Male	brain
19	chr6:106761200-106772000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:106761400-106771400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:106761400-106771400	Weak transcription	Colonic Mucosa	Colon
22	chr6:106761400-106771800	Weak transcription	Brain Hippocampus Middle	brain
23	chr6:106762000-106772600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:106763200-106770800	Weak transcription	Lung	lung
25	chr6:106763200-106771200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr6:106763200-106771200	Weak transcription	Fetal Intestine Small	intestine
27	chr6:106763200-106771200	Weak transcription	Pancreas	Pancrea
28	chr6:106763200-106771400	Weak transcription	Fetal Kidney	kidney
29	chr6:106763200-106771800	Weak transcription	Fetal Muscle Leg	muscle
30	chr6:106763200-106771800	Weak transcription	Fetal Stomach	stomach
31	chr6:106763400-106771400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:106763400-106771400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr6:106763400-106771600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:106763400-106771800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr6:106763400-106771800	Weak transcription	Placenta	Placenta
36	chr6:106763400-106772400	Weak transcription	Aorta	Aorta
37	chr6:106763600-106771800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr6:106763600-106771800	Weak transcription	Thymus	Thymus
39	chr6:106763800-106771200	Weak transcription	Fetal Thymus	thymus
40	chr6:106763800-106772200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr6:106763800-106772600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:106764000-106770200	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr6:106764000-106770200	Weak transcription	HepG2	liver
44	chr6:106764000-106771000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr6:106764000-106771400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr6:106764000-106771400	Weak transcription	Adipose Nuclei	Adipose
47	chr6:106764000-106771400	Weak transcription	Liver	Liver
48	chr6:106764000-106771400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr6:106764000-106771400	Weak transcription	Fetal Intestine Large	intestine
50	chr6:106764000-106771400	Weak transcription	Monocytes-CD14+_RO01746	blood

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