Variant report

Variant	esv3491979
Chromosome Location	chr6:167161262-167164310
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:167039628..167041364-chr6:167163244..167165367,2	MCF-7	breast:
2	chr6:167160489..167162374-chr6:167163032..167165986,2	K562	blood:
3	chr6:167160489..167162374-chr6:167163032..167165986,2	K562	blood:

Variant related genes	Relation type
ENSG00000071242	chromatin interactions

Extended variants
information (count: 210 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191182214	chr6:167161283-167161284	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs150099888	chr6:167161292-167161293	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs534155906	chr6:167161304-167161305	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs527348198	chr6:167161305-167161306	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs559027361	chr6:167161313-167161314	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs553503905	chr6:167161354-167161355	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs73263056	chr6:167161375-167161376	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs62438706	chr6:167161402-167161403	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs554928700	chr6:167161411-167161412	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560897339	chr6:167161435-167161436	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs926388	chr6:167161455-167161456	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543063680	chr6:167161456-167161457	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138370566	chr6:167161493-167161494	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532110825	chr6:167161497-167161498	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112867502	chr6:167161498-167161499	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550480068	chr6:167161499-167161500	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556777343	chr6:167161517-167161518	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548347871	chr6:167161519-167161520	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4710089	chr6:167161523-167161524	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs531196052	chr6:167161542-167161543	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552294022	chr6:167161543-167161544	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538869148	chr6:167161547-167161548	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1883361	chr6:167161571-167161572	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534700370	chr6:167161599-167161600	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11757986	chr6:167161626-167161627	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs553540718	chr6:167161632-167161633	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs568542282	chr6:167161671-167161672	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs536470407	chr6:167161702-167161703	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs375702819	chr6:167161721-167161722	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs11758967	chr6:167161726-167161727	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs537303738	chr6:167161738-167161739	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs11966338	chr6:167161761-167161762	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs576813456	chr6:167161762-167161763	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs540607928	chr6:167161773-167161774	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs559044342	chr6:167161785-167161786	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs569154465	chr6:167161806-167161807	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs542028976	chr6:167161829-167161830	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs563859361	chr6:167161852-167161853	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs540218239	chr6:167161865-167161866	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs183346078	chr6:167161866-167161867	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs552875503	chr6:167161887-167161888	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs116402423	chr6:167161893-167161894	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs537042365	chr6:167161941-167161942	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs11966361	chr6:167161943-167161944	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568581777	chr6:167161954-167161955	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs78272821	chr6:167161955-167161956	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs548084256	chr6:167161956-167161957	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs569877936	chr6:167161980-167161981	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs59166746	chr6:167162008-167162009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536842775	chr6:167162010-167162011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Autism	22549408	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167157600-167161400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:167157600-167163600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:167157600-167164200	Weak transcription	Fetal Kidney	kidney
4	chr6:167157800-167163200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:167157800-167163800	Weak transcription	Brain Anterior Caudate	brain
6	chr6:167157800-167163800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:167157800-167164200	Weak transcription	HSMM	muscle
8	chr6:167158200-167163000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:167160000-167164600	Weak transcription	HSMMtube	muscle
10	chr6:167160400-167162000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:167160600-167162000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr6:167160600-167162000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:167160800-167161600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:167160800-167161800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr6:167160800-167161800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr6:167160800-167161800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr6:167160800-167161800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr6:167160800-167162000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr6:167160800-167162000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr6:167161000-167161600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:167161000-167161600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:167161000-167161600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr6:167161000-167161800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr6:167161000-167161800	Bivalent Enhancer	Placenta	Placenta
25	chr6:167161000-167162000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:167161000-167162000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:167161000-167162000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr6:167161000-167162000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr6:167161200-167161600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr6:167161200-167161600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:167161200-167161600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
32	chr6:167161200-167161800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:167161200-167161800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:167161200-167161800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:167161200-167161800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:167161200-167162000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr6:167161200-167162000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:167161200-167162000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:167161200-167162000	Enhancers	Fetal Thymus	thymus
40	chr6:167161400-167161600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr6:167161400-167161800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr6:167161400-167161800	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr6:167161400-167162000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:167161400-167162000	Enhancers	Primary hematopoietic stem cells	blood
45	chr6:167161400-167162000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:167161400-167162000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:167161600-167161800	Enhancers	Thymus	Thymus
48	chr6:167161600-167161800	Enhancers	NH-A	brain
49	chr6:167161600-167162000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr6:167161600-167162000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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