Variant report

Variant	esv3433388
Chromosome Location	chr6:5415789-5416237
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	chr6:5415440..5417820-chr6:5418569..5420285,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545699804	chr6:5415792-5415793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192357207	chr6:5415802-5415803	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs572798353	chr6:5415807-5415808	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs539894719	chr6:5415808-5415809	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs376143554	chr6:5415840-5415841	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs36120046	chr6:5415842-5415843	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs9405264	chr6:5415852-5415853	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs184304315	chr6:5415860-5415861	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs12208777	chr6:5415873-5415874	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs145853671	chr6:5415900-5415901	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs561553848	chr6:5415902-5415903	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs368947485	chr6:5415909-5415910	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs566702126	chr6:5415922-5415923	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs559999087	chr6:5415975-5415976	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs148230431	chr6:5416042-5416043	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs2432766	chr6:5416048-5416049	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs140088493	chr6:5416136-5416137	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs538364925	chr6:5416170-5416171	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs556660829	chr6:5416175-5416176	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs570239561	chr6:5416231-5416232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571879880	chr6:5416232-5416233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5369400-5419800	Weak transcription	Aorta	Aorta
2	chr6:5369600-5417400	Weak transcription	Fetal Intestine Small	intestine
3	chr6:5374400-5431400	Weak transcription	Primary B cells from cord blood	blood
4	chr6:5395400-5431200	Weak transcription	Left Ventricle	heart
5	chr6:5399200-5415800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:5399200-5440000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:5403200-5439800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:5403400-5445200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:5403600-5418600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr6:5403600-5437600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr6:5404200-5419800	Weak transcription	Dnd41	blood
12	chr6:5404800-5428200	Weak transcription	Lung	lung
13	chr6:5405200-5431000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr6:5405400-5439800	Weak transcription	Pancreas	Pancrea
15	chr6:5406600-5431400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:5406800-5417600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr6:5407000-5415800	Weak transcription	Fetal Stomach	stomach
18	chr6:5407000-5431000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr6:5407400-5439600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr6:5408200-5417800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:5408600-5431200	Weak transcription	Gastric	stomach
22	chr6:5410200-5431200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr6:5410400-5427600	Weak transcription	Thymus	Thymus
24	chr6:5410800-5421200	Weak transcription	Primary T cells from cord blood	blood
25	chr6:5411600-5431200	Weak transcription	HepG2	liver
26	chr6:5411600-5432800	Weak transcription	Fetal Muscle Leg	muscle
27	chr6:5412400-5419800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr6:5412600-5421000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:5412600-5422200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr6:5412800-5425800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:5412800-5431200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:5412800-5437000	Weak transcription	Ovary	ovary
33	chr6:5412800-5439400	Weak transcription	Spleen	Spleen
34	chr6:5413400-5431400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:5413400-5433200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:5413400-5435200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:5413400-5442800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr6:5415800-5416200	ZNF genes & repeats	Fetal Stomach	stomach

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