Variant report

Variant	esv1673345
Chromosome Location	chr6:5135355-5135411
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr6:5135116-5135780	A549	lung:	n/a	n/a

Variant related genes	Relation type
LYRM4	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs650770	chr6:5135356-5135357	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs71547288	chr6:5135375-5135376	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs112560642	chr6:5135403-5135404	Weak transcription Enhancers	TF binding region	1 gene(s)	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
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5128800-5136200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr6:5129000-5136800	Weak transcription	Primary T cells from cord blood	blood
3	chr6:5129000-5162000	Weak transcription	K562	blood
4	chr6:5129800-5138000	Weak transcription	HepG2	liver
5	chr6:5130600-5140400	Weak transcription	Gastric	stomach
6	chr6:5130600-5172200	Weak transcription	Lung	lung
7	chr6:5130800-5139400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:5130800-5142400	Weak transcription	Fetal Intestine Small	intestine
9	chr6:5131000-5143000	Weak transcription	Spleen	Spleen
10	chr6:5132000-5139200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:5133200-5141800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:5133400-5136600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:5133400-5143200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:5133400-5143800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:5133400-5144000	Weak transcription	Fetal Brain Male	brain
16	chr6:5133400-5146000	Weak transcription	Psoas Muscle	Psoas
17	chr6:5133400-5151600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr6:5133600-5136600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:5133600-5143400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr6:5133600-5143800	Weak transcription	Fetal Stomach	stomach
21	chr6:5133800-5136200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:5133800-5136200	Weak transcription	Brain Anterior Caudate	brain
23	chr6:5133800-5136200	Weak transcription	HUVEC	blood vessel
24	chr6:5133800-5139200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr6:5133800-5139400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:5133800-5140000	Weak transcription	GM12878-XiMat	blood
27	chr6:5133800-5140600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:5133800-5142400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:5133800-5143000	Weak transcription	Fetal Muscle Leg	muscle
30	chr6:5133800-5143400	Weak transcription	Left Ventricle	heart
31	chr6:5133800-5143600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr6:5133800-5153400	Weak transcription	Right Ventricle	heart
33	chr6:5134000-5135800	Enhancers	NHEK	skin
34	chr6:5134200-5135800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:5134200-5139000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr6:5134200-5144200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:5134400-5135600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:5134400-5136000	Weak transcription	Primary B cells from peripheral blood	blood
39	chr6:5134400-5139000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr6:5134400-5139000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr6:5134600-5136200	Weak transcription	Adipose Nuclei	Adipose
42	chr6:5134600-5138800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr6:5134600-5139000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr6:5134600-5139000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr6:5134800-5135800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr6:5135000-5151000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:5135200-5139600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr6:5135200-5151800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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