Variant report

Variant	esv3473518
Chromosome Location	chr6:143869262-143872553
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	chr6:143862944..143867342-chr6:143867503..143870947,4	MCF-7	breast:
2	chr6:143821679..143824667-chr6:143871849..143874499,2	K562	blood:
3	chr6:143836199..143838556-chr6:143869163..143871034,2	MCF-7	breast:
4	chr6:143869206..143870977-chr6:143871328..143872933,2	MCF-7	breast:
5	chr6:143865983..143871138-chr6:143872927..143875725,7	K562	blood:
6	chr6:143831248..143834515-chr6:143869865..143874242,4	MCF-7	breast:
7	chr6:143857260..143859817-chr6:143870633..143872345,2	MCF-7	breast:
8	chr6:143866196..143871091-chr6:143873413..143876633,4	K562	blood:
9	chr6:143869206..143870977-chr6:143871328..143872933,2	MCF-7	breast:
10	chr6:143867547..143870073-chr6:143871056..143873406,3	K562	blood:
11	chr6:143870693..143872916-chr6:143883159..143885258,2	MCF-7	breast:
12	chr6:143867547..143870073-chr6:143871056..143873406,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235740	chromatin interactions
ENSG00000229036	chromatin interactions
ENSG00000112419	chromatin interactions
ENSG00000001036	chromatin interactions

Extended variants
information (count: 123 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527502196	chr6:143869318-143869319	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115961004	chr6:143869369-143869370	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs578049372	chr6:143869377-143869378	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142607157	chr6:143869397-143869398	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7742027	chr6:143869462-143869463	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs558358733	chr6:143869478-143869479	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547619921	chr6:143869507-143869508	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545138186	chr6:143869585-143869586	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560113026	chr6:143869587-143869588	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565307977	chr6:143869608-143869609	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543018062	chr6:143869613-143869614	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567561424	chr6:143869627-143869628	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561388872	chr6:143869672-143869673	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532055833	chr6:143869688-143869689	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550379073	chr6:143869697-143869698	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530834331	chr6:143869723-143869724	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138763480	chr6:143869758-143869759	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547467316	chr6:143869774-143869775	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77052095	chr6:143869785-143869786	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560757988	chr6:143869796-143869797	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79022229	chr6:143869821-143869822	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188860003	chr6:143869822-143869823	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374279944	chr6:143869850-143869851	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569827969	chr6:143869851-143869852	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9484765	chr6:143869867-143869868	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs193042063	chr6:143869888-143869889	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs9496661	chr6:143869964-143869965	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs370490802	chr6:143869973-143869974	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs576675066	chr6:143869979-143869980	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs540831996	chr6:143869980-143869981	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs6909198	chr6:143869982-143869983	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371342328	chr6:143869995-143869996	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs572518341	chr6:143870006-143870007	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs56324439	chr6:143870014-143870015	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs561365113	chr6:143870029-143870030	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs141804479	chr6:143870072-143870073	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs9496662	chr6:143870102-143870103	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs369894770	chr6:143870107-143870108	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs532710802	chr6:143870112-143870113	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs550919576	chr6:143870195-143870196	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs548022536	chr6:143870204-143870205	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs565607678	chr6:143870223-143870224	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs144454455	chr6:143870232-143870233	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs185206865	chr6:143870233-143870234	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs569672150	chr6:143870273-143870274	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs58015073	chr6:143870282-143870283	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs148394529	chr6:143870290-143870291	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs552006873	chr6:143870358-143870359	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs188352248	chr6:143870395-143870396	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558379468	chr6:143870429-143870430	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
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
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143859400-143871200	Weak transcription	Pancreas	Pancrea
2	chr6:143859400-143875600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:143859400-143875600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:143859400-143876000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:143861800-143870600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:143863200-143870200	Weak transcription	Small Intestine	intestine
7	chr6:143863400-143870200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:143863800-143870200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr6:143865000-143875600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr6:143865400-143877800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr6:143865600-143874600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:143865800-143876000	Weak transcription	Fetal Heart	heart
13	chr6:143866200-143870000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:143866800-143869600	Weak transcription	Esophagus	oesophagus
15	chr6:143866800-143904600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:143867000-143870400	Weak transcription	HMEC	breast
17	chr6:143867200-143869800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr6:143867200-143875800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:143867400-143869600	Weak transcription	GM12878-XiMat	blood
20	chr6:143867400-143870200	Weak transcription	Stomach Mucosa	stomach
21	chr6:143867400-143875000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:143867400-143876000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr6:143867600-143870000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:143867600-143870200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:143867600-143870200	Weak transcription	NHEK	skin
26	chr6:143867600-143871400	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr6:143867600-143871400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:143867600-143871400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr6:143867600-143876000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr6:143868000-143870200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr6:143868000-143870400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr6:143868200-143869600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr6:143868200-143869600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr6:143868200-143870000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:143868200-143883600	Weak transcription	Gastric	stomach
36	chr6:143868400-143869600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr6:143868800-143869400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:143869000-143870200	Weak transcription	Primary T cells from cord blood	blood
39	chr6:143869200-143869400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr6:143869200-143869800	Genic enhancers	Fetal Intestine Large	intestine
41	chr6:143869200-143870400	Genic enhancers	Fetal Intestine Small	intestine
42	chr6:143869400-143870400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:143869400-143872200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:143869600-143870200	Enhancers	GM12878-XiMat	blood
45	chr6:143869600-143870600	Enhancers	Esophagus	oesophagus
46	chr6:143869600-143871400	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr6:143869600-143871800	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr6:143869600-143872200	Enhancers	Primary T cells fromperipheralblood	blood
49	chr6:143869800-143870000	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr6:143869800-143873800	Enhancers	Fetal Intestine Large	intestine

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