Variant report

Variant	esv2762589
Chromosome Location	chr6:44982992-45044580
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:45008781..45011238-chr6:45015698..45018079,2	MCF-7	breast:
2	chr6:44987108..44989743-chr6:44993654..44995647,2	K562	blood:
3	chr6:45003285..45005012-chr6:45007518..45010080,2	K562	blood:
4	chr12:48357281..48357866-chr6:45012051..45012551,2	Hela-S3	cervix:
5	chr6:45038976..45040613-chr6:45043879..45046271,2	K562	blood:
6	chr6:44987589..44991130-chr6:44992558..44996333,3	K562	blood:
7	chr6:45008781..45011238-chr6:45015698..45018079,2	MCF-7	breast:
8	chr6:45003285..45005012-chr6:45007518..45010080,2	K562	blood:
9	chr6:44974489..44977160-chr6:44980461..44983338,2	K562	blood:
10	chr6:44987589..44991130-chr6:44992558..44996333,3	K562	blood:
11	chr6:44987108..44989743-chr6:44993654..44995647,2	K562	blood:
12	chr6:44996729..44999425-chr6:45119837..45121459,2	K562	blood:
13	chr6:45038976..45040613-chr6:45043879..45046271,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134291	chromatin interactions

Extended variants
information (count: 2054 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:2054 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72867444	chr6:44982993-44982994	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186156754	chr6:44983054-44983055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547673045	chr6:44983066-44983067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559578034	chr6:44983109-44983110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561953984	chr6:44983110-44983111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2396373	chr6:44983134-44983135	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs554067623	chr6:44983210-44983211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551652074	chr6:44983309-44983310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570541531	chr6:44983315-44983316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114294232	chr6:44983323-44983324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549779076	chr6:44983334-44983335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73442933	chr6:44983359-44983360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs146659413	chr6:44983376-44983377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35751658	chr6:44983390-44983391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs78727801	chr6:44983391-44983392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190965194	chr6:44983408-44983409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551822744	chr6:44983425-44983426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572323142	chr6:44983432-44983433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140154716	chr6:44983440-44983441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539642367	chr6:44983518-44983519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139475491	chr6:44983526-44983527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76221894	chr6:44983527-44983528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145574841	chr6:44983532-44983533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201696961	chr6:44983533-44983534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9369528	chr6:44983534-44983535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12662173	chr6:44983543-44983544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75969975	chr6:44983545-44983546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576515912	chr6:44983589-44983590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543547775	chr6:44983635-44983636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182153997	chr6:44983657-44983658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76984334	chr6:44983695-44983696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540979345	chr6:44983716-44983717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559638706	chr6:44983752-44983753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116838567	chr6:44983775-44983776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57919579	chr6:44983797-44983798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375439484	chr6:44983807-44983808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549894297	chr6:44983833-44983834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114541001	chr6:44983844-44983845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187698944	chr6:44983859-44983860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547388502	chr6:44983901-44983902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs151092768	chr6:44983902-44983903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191376230	chr6:44983934-44983935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141018887	chr6:44983937-44983938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182801145	chr6:44983939-44983940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537208147	chr6:44983945-44983946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9395058	chr6:44984069-44984070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs570744078	chr6:44984073-44984074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188264192	chr6:44984081-44984082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559303994	chr6:44984082-44984083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9395059	chr6:44984097-44984098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:341 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44964600-44983600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr6:44965800-44983400	Weak transcription	Primary B cells from cord blood	blood
3	chr6:44966400-44993600	Weak transcription	HepG2	liver
4	chr6:44970800-44988600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr6:44970800-44989000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:44971400-44988800	Weak transcription	Primary T cells from cord blood	blood
7	chr6:44972000-44983800	Weak transcription	Adipose Nuclei	Adipose
8	chr6:44974800-45004600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:44975000-44983800	Weak transcription	Brain Anterior Caudate	brain
10	chr6:44977200-44988800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr6:44977600-44993800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:44978600-44988600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:44979000-44983200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr6:44979000-44983400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:44979000-44983600	Weak transcription	Fetal Brain Male	brain
16	chr6:44979200-44983600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:44979400-44984000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:44980600-44983000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr6:44980600-44989000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr6:44980800-44983000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr6:44980800-44983600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:44981000-44983200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:44981000-44983200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:44981000-44983400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:44981200-44983200	Weak transcription	Brain Angular Gyrus	brain
26	chr6:44981400-44983000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr6:44981600-44983000	Weak transcription	Ovary	ovary
28	chr6:44981600-44983200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:44981600-44983200	Weak transcription	Fetal Intestine Large	intestine
30	chr6:44981600-44983400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr6:44981600-44983800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:44981600-44994800	Weak transcription	Aorta	Aorta
33	chr6:44981600-44994800	Weak transcription	Pancreas	Pancrea
34	chr6:44981800-44983400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr6:44981800-44988200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:44981800-44988800	Weak transcription	Brain Hippocampus Middle	brain
37	chr6:44982200-44983800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr6:44982200-44987200	Weak transcription	Dnd41	blood
39	chr6:44982600-44984200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:44982600-44989000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr6:44983000-44984600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr6:44983200-44988200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:44986200-44988800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:44987200-44987600	ZNF genes & repeats	Dnd41	blood
45	chr6:44987600-44989000	Weak transcription	Dnd41	blood
46	chr6:44988200-44988800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:44988200-44990600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:44988600-44989000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:44988600-44989200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:44988600-44990200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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