Variant report

Variant	esv3429176
Chromosome Location	chr6:121756880-121768144
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:121753097..121755980-chr6:121757909..121760037,2	K562	blood:

Extended variants
information (count: 429 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190869601	chr6:121756885-121756886	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs200606693	chr6:121756924-121756925	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs111581053	chr6:121756928-121756929	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs539122545	chr6:121756951-121756952	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs555881957	chr6:121756965-121756966	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs530806490	chr6:121756973-121756974	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs566103698	chr6:121756989-121756990	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs535049020	chr6:121757003-121757004	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs79597379	chr6:121757028-121757029	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs574026565	chr6:121757038-121757039	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs114435397	chr6:121757059-121757060	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs34726392	chr6:121757071-121757072	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs55634623	chr6:121757084-121757085	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs576116232	chr6:121757092-121757093	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs545103320	chr6:121757118-121757119	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs564610334	chr6:121757121-121757122	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs571786222	chr6:121757136-121757137	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs186585443	chr6:121757152-121757153	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs542533518	chr6:121757178-121757179	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs78125885	chr6:121757209-121757210	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs530469886	chr6:121757240-121757241	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs375476614	chr6:121757249-121757250	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs550157579	chr6:121757250-121757251	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs190541325	chr6:121757251-121757252	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs555763805	chr6:121757282-121757283	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs201597106	chr6:121757283-121757284	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs201323787	chr6:121757330-121757331	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs11333433	chr6:121757331-121757332	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs544587657	chr6:121757335-121757336	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs11389341	chr6:121757337-121757338	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs397944683	chr6:121757340-121757341	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs143464367	chr6:121757382-121757383	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs148004852	chr6:121757395-121757396	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs535114644	chr6:121757401-121757402	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs188113805	chr6:121757427-121757428	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs548650508	chr6:121757454-121757455	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs111781113	chr6:121757477-121757478	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs568419312	chr6:121757604-121757605	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs565501998	chr6:121757661-121757662	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs34012010	chr6:121757706-121757707	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs536557249	chr6:121757753-121757754	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs141706253	chr6:121757764-121757765	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs536075014	chr6:121757771-121757772	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs576206860	chr6:121757774-121757775	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs34635013	chr6:121757813-121757814	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs538484540	chr6:121757859-121757860	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs148349001	chr6:121757875-121757876	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs558313939	chr6:121757887-121757888	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs3805788	chr6:121757890-121757891	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs540721917	chr6:121757896-121757897	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
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
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
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:786 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121752000-121757400	Weak transcription	Brain Angular Gyrus	brain
2	chr6:121752200-121757400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:121755600-121760000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:121755800-121757000	Active TSS	Fetal Heart	heart
5	chr6:121756000-121758800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:121756000-121760400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:121756000-121760800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:121756000-121761600	Active TSS	H1 Cell Line	embryonic stem cell
9	chr6:121756200-121758600	Active TSS	Brain Anterior Caudate	brain
10	chr6:121756200-121761600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr6:121756200-121763600	Active TSS	Aorta	Aorta
12	chr6:121756200-121764200	Active TSS	Right Atrium	heart
13	chr6:121756400-121757600	Active TSS	Brain Hippocampus Middle	brain
14	chr6:121756400-121758200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:121756400-121759200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:121756400-121759400	Active TSS	Adipose Nuclei	Adipose
17	chr6:121756400-121760400	Active TSS	A549	lung
18	chr6:121756400-121760600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:121756400-121760800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:121756400-121762400	Active TSS	Left Ventricle	heart
21	chr6:121756600-121757800	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr6:121756600-121757800	Active TSS	Fetal Muscle Trunk	muscle
23	chr6:121756600-121757800	Active TSS	Fetal Muscle Leg	muscle
24	chr6:121756600-121757800	Enhancers	Small Intestine	intestine
25	chr6:121756600-121758000	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr6:121756600-121758200	Active TSS	Psoas Muscle	Psoas
27	chr6:121756600-121758200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
28	chr6:121756600-121758800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:121756600-121759000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:121756600-121759000	Active TSS	Osteobl	bone
31	chr6:121756600-121759200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:121756600-121759200	Active TSS	Fetal Kidney	kidney
33	chr6:121756600-121759200	Active TSS	HUVEC	blood vessel
34	chr6:121756600-121759400	Active TSS	Muscle Satellite Cultured Cells	--
35	chr6:121756600-121759400	Active TSS	Fetal Intestine Large	intestine
36	chr6:121756600-121759400	Active TSS	Fetal Intestine Small	intestine
37	chr6:121756600-121759400	Active TSS	Fetal Lung	lung
38	chr6:121756600-121759400	Active TSS	HSMM	muscle
39	chr6:121756600-121759600	Active TSS	Brain Germinal Matrix	brain
40	chr6:121756600-121759800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:121756600-121759800	Active TSS	Placenta Amnion	Placenta Amnion
42	chr6:121756600-121760200	Active TSS	NH-A	brain
43	chr6:121756600-121760600	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr6:121756600-121760600	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr6:121756600-121760800	Active TSS	NHDF-Ad	bronchial
46	chr6:121756600-121761000	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr6:121756600-121761200	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr6:121756600-121761400	Active TSS	H9 Cell Line	embryonic stem cell
49	chr6:121756600-121761400	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr6:121756600-121761600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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