Variant report

Variant	esv3403606
Chromosome Location	chr6:149350209-149351257
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	chr6:149350211..149352689-chr6:149414804..149416948,2	MCF-7	breast:
2	chr6:149349493..149352032-chr6:149352609..149354718,2	K562	blood:
3	chr6:149349695..149350816-chr6:149752428..149753382,4	K562	blood:
4	chr6:149351101..149353287-chr6:149403711..149405332,2	MCF-7	breast:
5	chr6:149350092..149350652-chr6:149752991..149753790,4	MCF-7	breast:
6	chr6:149349779..149350643-chr6:149400657..149401185,2	MCF-7	breast:
7	chr6:149348466..149350718-chr6:149745093..149747617,2	MCF-7	breast:
8	chr6:149349779..149353985-chr6:149637379..149639962,5	MCF-7	breast:
9	chr6:149349721..149351281-chr6:149637286..149640010,2	MCF-7	breast:
10	chr6:149349740..149350625-chr6:149750799..149751756,3	K562	blood:
11	chr6:149350099..149351108-chr6:149403086..149404039,4	MCF-7	breast:
12	chr6:149348139..149350308-chr6:149866371..149868197,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236591	chromatin interactions
ENSG00000055208	chromatin interactions
ENSG00000131013	chromatin interactions

Extended variants
information (count: 41 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192505431	chr6:149350370-149350371	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs549720493	chr6:149350389-149350390	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs111280588	chr6:149350391-149350392	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs531474524	chr6:149350428-149350429	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs557156140	chr6:149350456-149350457	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs551576255	chr6:149350460-149350461	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs571334062	chr6:149350475-149350476	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs9498194	chr6:149350484-149350485	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs147062157	chr6:149350518-149350519	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs138301618	chr6:149350526-149350527	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs536256262	chr6:149350534-149350535	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs556153456	chr6:149350539-149350540	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs576688899	chr6:149350566-149350567	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs574032213	chr6:149350567-149350568	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs71554433	chr6:149350578-149350579	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs66564305	chr6:149350579-149350580	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs55780020	chr6:149350582-149350583	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs531007096	chr6:149350602-149350603	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs576419599	chr6:149350625-149350626	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs4897075	chr6:149350640-149350641	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs183610111	chr6:149350718-149350719	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs144164955	chr6:149350754-149350755	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs541563714	chr6:149350800-149350801	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs577104146	chr6:149350805-149350806	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs561052575	chr6:149350877-149350878	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs574553961	chr6:149350881-149350882	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs543429953	chr6:149350903-149350904	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs557630102	chr6:149350945-149350946	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs77055362	chr6:149350956-149350957	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs534962701	chr6:149351003-149351004	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs374308215	chr6:149351039-149351040	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs3074362	chr6:149351045-149351046	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs58943115	chr6:149351046-149351047	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs28591581	chr6:149351047-149351048	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs28699179	chr6:149351048-149351049	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs563315644	chr6:149351073-149351074	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs148279764	chr6:149351091-149351092	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs551371780	chr6:149351210-149351211	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs188308468	chr6:149351234-149351235	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs141330785	chr6:149351244-149351245	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs539590036	chr6:149351246-149351247	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Autism	22495311	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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149305400-149381400	Weak transcription	Gastric	stomach
2	chr6:149327200-149353000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:149334000-149353400	Weak transcription	Spleen	Spleen
4	chr6:149334400-149352800	Weak transcription	HSMMtube	muscle
5	chr6:149336200-149351400	Weak transcription	Fetal Thymus	thymus
6	chr6:149336200-149353000	Weak transcription	Pancreas	Pancrea
7	chr6:149336200-149353200	Weak transcription	Esophagus	oesophagus
8	chr6:149336200-149358000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:149336400-149354000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:149336800-149353200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:149337200-149353600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:149337600-149352800	Weak transcription	NHLF	lung
13	chr6:149337600-149353000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:149337600-149358000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr6:149338200-149351800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:149338200-149352400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:149339400-149353200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:149339400-149364600	Weak transcription	Lung	lung
19	chr6:149339800-149353200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr6:149341000-149353400	Weak transcription	Aorta	Aorta
21	chr6:149341000-149365400	Weak transcription	Right Ventricle	heart
22	chr6:149341200-149352200	Weak transcription	Primary T cells from cord blood	blood
23	chr6:149341400-149353200	Weak transcription	Brain Hippocampus Middle	brain
24	chr6:149342400-149353400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:149343000-149352800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:149343200-149352400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:149343200-149358000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr6:149344000-149352000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr6:149344000-149352800	Weak transcription	Fetal Lung	lung
30	chr6:149344000-149353000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:149344000-149357200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr6:149344000-149357400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr6:149344600-149353400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr6:149344600-149353600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:149344600-149353800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:149344600-149357800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr6:149344800-149354800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr6:149344800-149358000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr6:149345000-149352800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr6:149345000-149353000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:149345000-149355200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr6:149345400-149350400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr6:149345400-149353000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:149345400-149353000	Weak transcription	Fetal Stomach	stomach
45	chr6:149345400-149353600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr6:149345400-149362000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr6:149345600-149353000	Weak transcription	Ovary	ovary
48	chr6:149345600-149355000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr6:149345600-149358000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr6:149345800-149352000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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