Variant report

Variant	esv2757164
Chromosome Location	chr6:44953758-44989519
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44974489..44977160-chr6:44980461..44983338,2	K562	blood:
2	chr6:44974489..44977160-chr6:44980461..44983338,2	K562	blood:
3	chr6:44963271..44965402-chr6:44968999..44972162,3	K562	blood:
4	chr6:44962823..44965402-chr6:44970662..44972612,2	K562	blood:
5	chr6:44949240..44952197-chr6:44957383..44960219,3	K562	blood:
6	chr6:44963271..44965402-chr6:44968999..44972162,3	K562	blood:
7	chr6:44987108..44989743-chr6:44993654..44995647,2	K562	blood:
8	chr6:44972423..44974259-chr6:44978944..44980911,2	K562	blood:
9	chr6:44962823..44965402-chr6:44970662..44972612,2	K562	blood:
10	chr6:44972423..44974259-chr6:44978944..44980911,2	K562	blood:
11	chr6:44987589..44991130-chr6:44992558..44996333,3	K562	blood:

No data

Extended variants
information (count: 1293 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1293 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1329716	chr6:44953758-44953759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs9296450	chr6:44953786-44953787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs187497101	chr6:44953796-44953797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562695334	chr6:44953802-44953803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146251260	chr6:44953837-44953838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374885985	chr6:44953884-44953885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115882702	chr6:44953894-44953895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539566729	chr6:44953941-44953942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537046157	chr6:44953976-44953977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551623529	chr6:44953985-44953986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191426064	chr6:44954058-44954059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139301341	chr6:44954126-44954127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553170029	chr6:44954164-44954165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183699275	chr6:44954197-44954198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149486478	chr6:44954298-44954299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547781706	chr6:44954314-44954315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188632748	chr6:44954338-44954339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73737805	chr6:44954359-44954360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs148617145	chr6:44954386-44954387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561624022	chr6:44954401-44954402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529227166	chr6:44954489-44954490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147181222	chr6:44954578-44954579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541297859	chr6:44954587-44954588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193285403	chr6:44954614-44954615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72867411	chr6:44954624-44954625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs72867412	chr6:44954635-44954636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs140218502	chr6:44954640-44954641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530994727	chr6:44954758-44954759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544838623	chr6:44954781-44954782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71566510	chr6:44954798-44954799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548968627	chr6:44954799-44954800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555742434	chr6:44954825-44954826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6458416	chr6:44954843-44954844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs535000433	chr6:44954844-44954845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75381374	chr6:44954853-44954854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183544531	chr6:44954864-44954865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113797153	chr6:44954865-44954866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367550156	chr6:44954989-44954990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73447427	chr6:44955038-44955039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35935049	chr6:44955049-44955050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186808773	chr6:44955080-44955081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543477573	chr6:44955107-44955108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372776288	chr6:44955222-44955223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555418443	chr6:44955230-44955231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74369041	chr6:44955248-44955249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78187917	chr6:44955254-44955255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559682252	chr6:44955282-44955283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141023711	chr6:44955310-44955311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs80045222	chr6:44955345-44955346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533558223	chr6:44955346-44955347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44940800-44957000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:44946600-44955000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr6:44946600-44955000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr6:44947800-44962000	Weak transcription	Pancreas	Pancrea
5	chr6:44951200-44980800	Weak transcription	Aorta	Aorta
6	chr6:44955000-44955800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr6:44955000-44955800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr6:44955000-44955800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr6:44955200-44955400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:44955200-44955600	Enhancers	Primary T cells from cord blood	blood
11	chr6:44955200-44956000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr6:44955400-44955600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:44955600-44968400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:44963400-44964600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr6:44963600-44964600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr6:44964600-44981400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:44964600-44983600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:44965600-44978600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:44965800-44983400	Weak transcription	Primary B cells from cord blood	blood
20	chr6:44966000-44968600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:44966400-44993600	Weak transcription	HepG2	liver
22	chr6:44968400-44970600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr6:44968400-44970800	Enhancers	Primary T cells from cord blood	blood
24	chr6:44968400-44971200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:44968400-44971400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr6:44968400-44971400	Enhancers	Dnd41	blood
27	chr6:44968600-44970600	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr6:44968600-44970800	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr6:44968600-44970800	Enhancers	GM12878-XiMat	blood
30	chr6:44968600-44971000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr6:44968600-44971200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:44968600-44971200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr6:44968600-44971400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:44968800-44969000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:44968800-44969200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr6:44968800-44969800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:44969000-44969200	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr6:44969200-44970400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr6:44969400-44970000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:44969600-44979600	Weak transcription	Ovary	ovary
41	chr6:44969800-44970000	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr6:44970200-44971000	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr6:44970400-44970600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr6:44970600-44971600	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr6:44970600-44979800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr6:44970800-44971200	Weak transcription	Primary T cells from cord blood	blood
47	chr6:44970800-44971600	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr6:44970800-44988600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr6:44970800-44989000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:44971000-44971800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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