Variant report

Variant	esv3349781
Chromosome Location	chr6:44528274-44530622
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	chr6:44525504..44527468-chr6:44529113..44531042,2	MCF-7	breast:

Extended variants
information (count: 96 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534186667	chr6:44528294-44528295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563369107	chr6:44528325-44528326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531021265	chr6:44528381-44528382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144625155	chr6:44528388-44528389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6458395	chr6:44528410-44528411	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs184275114	chr6:44528440-44528441	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs10673879	chr6:44528476-44528477	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs6926337	chr6:44528478-44528479	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs35244174	chr6:44528483-44528484	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs146663716	chr6:44528550-44528551	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs372538523	chr6:44528590-44528591	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs9395030	chr6:44528593-44528594	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs574732707	chr6:44528608-44528609	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs544899517	chr6:44528626-44528627	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs564511085	chr6:44528631-44528632	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs140641013	chr6:44528651-44528652	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs9381338	chr6:44528674-44528675	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs9381339	chr6:44528676-44528677	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs150474394	chr6:44528699-44528700	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs571599141	chr6:44528726-44528727	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs538974576	chr6:44528754-44528755	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs533620062	chr6:44528784-44528785	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs138285354	chr6:44528793-44528794	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs73734116	chr6:44528841-44528842	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs536871565	chr6:44528879-44528880	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs555121161	chr6:44528932-44528933	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs573786162	chr6:44528968-44528969	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs534589053	chr6:44528992-44528993	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs553052904	chr6:44528998-44528999	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs577984497	chr6:44529000-44529001	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs540308449	chr6:44529017-44529018	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs554179083	chr6:44529067-44529068	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs370814807	chr6:44529088-44529089	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs575318602	chr6:44529091-44529092	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs560249490	chr6:44529099-44529100	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs13213490	chr6:44529103-44529104	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs371790110	chr6:44529106-44529107	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs71537496	chr6:44529108-44529109	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs561007219	chr6:44529114-44529115	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs577429087	chr6:44529128-44529129	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs190101107	chr6:44529131-44529132	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs181803625	chr6:44529132-44529133	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs7748916	chr6:44529143-44529144	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs375409570	chr6:44529149-44529150	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs532553368	chr6:44529192-44529193	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs112534084	chr6:44529201-44529202	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs70993457	chr6:44529228-44529229	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs200736857	chr6:44529233-44529234	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs368772239	chr6:44529234-44529235	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs201706416	chr6:44529236-44529237	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
lymphocytic leukemia	21291569	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44523000-44531000	Weak transcription	Ovary	ovary
2	chr6:44524000-44531000	Weak transcription	Gastric	stomach
3	chr6:44525000-44529200	Enhancers	Pancreas	Pancrea
4	chr6:44526200-44528800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:44526400-44528600	Weak transcription	Fetal Lung	lung
6	chr6:44526600-44528600	Weak transcription	Fetal Thymus	thymus
7	chr6:44526600-44531000	Weak transcription	Right Atrium	heart
8	chr6:44527000-44528800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:44527200-44528600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:44527600-44528600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr6:44527600-44528600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:44527600-44528600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:44527600-44528800	Weak transcription	Fetal Brain Male	brain
14	chr6:44527600-44529000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr6:44527600-44535400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:44527800-44528600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:44527800-44528800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:44527800-44528800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr6:44527800-44529000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:44527800-44529000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr6:44528000-44528400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:44528000-44528400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:44528000-44528600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:44528000-44529600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:44528000-44532600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr6:44528200-44528400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr6:44528200-44528600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr6:44528400-44528800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr6:44528400-44528800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr6:44528400-44529000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr6:44528400-44529400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:44528600-44528800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:44528600-44528800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:44528600-44528800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:44528600-44528800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:44528600-44528800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:44528600-44528800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
38	chr6:44528600-44528800	Bivalent Enhancer	Fetal Intestine Small	intestine
39	chr6:44528600-44528800	Flanking Active TSS	Psoas Muscle	Psoas
40	chr6:44528600-44529000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr6:44528600-44529000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
42	chr6:44528600-44529000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:44528600-44529000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:44528600-44529000	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr6:44528600-44529000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
46	chr6:44528600-44529000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
47	chr6:44528600-44529000	Bivalent Enhancer	NHEK	skin
48	chr6:44528600-44529000	Flanking Bivalent TSS/Enh	Osteobl	bone
49	chr6:44528600-44529200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr6:44528600-44529200	Bivalent Enhancer	Fetal Stomach	stomach

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