Variant report

Variant	esv2761060
Chromosome Location	chr6:5705542-5710228
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:5704687..5707322-chr6:5708946..5711451,2	K562	blood:
2	chr6:5704687..5707322-chr6:5708946..5711451,2	K562	blood:
3	chr6:5704009..5705520-chr6:5708074..5709705,2	MCF-7	breast:

Extended variants
information (count: 232 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:232 , 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	rs202123253	chr6:5705544-5705545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570423155	chr6:5705607-5705608	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540951542	chr6:5705619-5705620	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185634139	chr6:5705623-5705624	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144075691	chr6:5705624-5705625	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541856061	chr6:5705645-5705646	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563227714	chr6:5705656-5705657	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146487359	chr6:5705725-5705726	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552264760	chr6:5705782-5705783	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564338636	chr6:5705802-5705803	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs61582685	chr6:5705810-5705811	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs397956406	chr6:5705811-5705812	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs558730280	chr6:5705874-5705875	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs190346428	chr6:5705903-5705904	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs539634775	chr6:5705904-5705905	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs139514716	chr6:5705956-5705957	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs568275412	chr6:5705984-5705985	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs575933072	chr6:5706000-5706001	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs182159582	chr6:5706002-5706003	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs575299834	chr6:5706027-5706028	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs550585636	chr6:5706030-5706031	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs553239003	chr6:5706040-5706041	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs544224359	chr6:5706068-5706069	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs186139563	chr6:5706073-5706074	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs149703962	chr6:5706074-5706075	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs557949792	chr6:5706080-5706081	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs573432202	chr6:5706090-5706091	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs77522280	chr6:5706111-5706112	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs555886816	chr6:5706112-5706113	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs145452968	chr6:5706115-5706116	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs112655399	chr6:5706171-5706172	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs563286368	chr6:5706173-5706174	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs575293555	chr6:5706196-5706197	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs111299615	chr6:5706215-5706216	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs574757620	chr6:5706240-5706241	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs564021588	chr6:5706242-5706243	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs540239260	chr6:5706264-5706265	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs528151430	chr6:5706327-5706328	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs546483175	chr6:5706355-5706356	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs191830940	chr6:5706360-5706361	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs574642797	chr6:5706368-5706369	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs529169410	chr6:5706383-5706384	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs550446047	chr6:5706388-5706389	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs75859526	chr6:5706408-5706409	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs568939190	chr6:5706416-5706417	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs539446291	chr6:5706431-5706432	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs551891962	chr6:5706445-5706446	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs146937349	chr6:5706499-5706500	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs534250962	chr6:5706529-5706530	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs555704640	chr6:5706547-5706548	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5672200-5705800	Weak transcription	Thymus	Thymus
2	chr6:5673800-5709800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr6:5678000-5709400	Weak transcription	Pancreas	Pancrea
4	chr6:5684800-5706000	Weak transcription	Ovary	ovary
5	chr6:5695800-5709800	Weak transcription	Fetal Stomach	stomach
6	chr6:5696200-5707600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:5696200-5712400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:5699200-5705600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:5699400-5708000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:5699400-5713200	Weak transcription	Esophagus	oesophagus
11	chr6:5699800-5715800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:5700000-5705600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:5700400-5708200	Weak transcription	Primary B cells from cord blood	blood
14	chr6:5701600-5705600	Weak transcription	Aorta	Aorta
15	chr6:5701600-5706600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr6:5701800-5707200	Weak transcription	Spleen	Spleen
17	chr6:5701800-5708600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:5702000-5705800	Enhancers	Primary T cells from cord blood	blood
19	chr6:5702400-5709400	Weak transcription	Fetal Lung	lung
20	chr6:5703000-5706600	Enhancers	Fetal Thymus	thymus
21	chr6:5704200-5712600	Weak transcription	Lung	lung
22	chr6:5704400-5709400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:5704800-5707800	Enhancers	Dnd41	blood
24	chr6:5705000-5716600	Weak transcription	Fetal Intestine Small	intestine
25	chr6:5705400-5706600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr6:5705400-5706600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr6:5705400-5707400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr6:5705400-5708000	Enhancers	Primary T cells fromperipheralblood	blood
29	chr6:5705600-5706200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:5705600-5706600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:5705600-5707000	Strong transcription	Aorta	Aorta
32	chr6:5705600-5707200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr6:5705800-5707000	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr6:5705800-5707000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr6:5705800-5707200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:5705800-5707600	Enhancers	Thymus	Thymus
37	chr6:5706000-5706400	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr6:5706000-5706800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:5706000-5707400	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr6:5706000-5712200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr6:5706200-5706600	Enhancers	Primary B cells from peripheral blood	blood
42	chr6:5706200-5706800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr6:5706200-5712600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:5706400-5706800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr6:5706600-5707000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr6:5706600-5707000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr6:5706600-5707000	Enhancers	Fetal Muscle Trunk	muscle
48	chr6:5706600-5707000	Flanking Active TSS	Fetal Thymus	thymus
49	chr6:5706600-5716600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:5706800-5707200	Enhancers	HSMMtube	muscle

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