Variant report

Variant	esv9912
Chromosome Location	chr6:4918712-4919227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4912937..4915040-chr6:4916951..4919772,2	MCF-7	breast:
2	chr6:4916273..4918600-chr6:4919127..4921256,2	MCF-7	breast:
3	chr6:4912482..4914985-chr6:4916799..4919032,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 97 )

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	rs187979179	chr6:4918727-4918728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7738275	chr6:4918737-4918738	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs577197178	chr6:4918774-4918775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545862012	chr6:4918788-4918789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115340093	chr6:4918794-4918795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192397789	chr6:4918820-4918821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs62384680	chr6:4918825-4918826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541677876	chr6:4918853-4918854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7738459	chr6:4918883-4918884	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs527476225	chr6:4918884-4918885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142334801	chr6:4918959-4918960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547495633	chr6:4918988-4918989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7739834	chr6:4918994-4918995	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533007759	chr6:4919054-4919055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369230274	chr6:4919084-4919085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147568725	chr6:4919086-4919087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538547181	chr6:4919096-4919097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555291730	chr6:4919121-4919122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200539949	chr6:4919197-4919198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184477501	chr6:4919204-4919205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3930304	chr6:4919217-4919218	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:97)

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
Breast cancer	21364760	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

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4900200-4918800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr6:4905800-4931200	Weak transcription	HepG2	liver
3	chr6:4907600-4925200	Weak transcription	Fetal Heart	heart
4	chr6:4908000-4935600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr6:4908200-4934800	Weak transcription	Primary B cells from cord blood	blood
6	chr6:4908800-4920800	Weak transcription	Thymus	Thymus
7	chr6:4908800-4924400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:4911000-4930400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:4911000-4935200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr6:4912800-4931200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:4913200-4936000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:4913200-4941000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:4913600-4919200	Enhancers	Primary T cells from cord blood	blood
14	chr6:4913600-4938000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr6:4914000-4930600	Weak transcription	A549	lung
16	chr6:4914800-4919000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:4914800-4920200	Weak transcription	K562	blood
18	chr6:4914800-4920800	Weak transcription	Colonic Mucosa	Colon
19	chr6:4914800-4922200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr6:4914800-4924600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:4914800-4930400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:4914800-4930400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr6:4915000-4919200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:4915000-4919200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:4915000-4921200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr6:4915000-4921400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr6:4915000-4921400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:4915000-4922000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:4915000-4929800	Weak transcription	Hela-S3	cervix
30	chr6:4915200-4918800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr6:4915200-4921800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr6:4915200-4922000	Weak transcription	Adipose Nuclei	Adipose
33	chr6:4915200-4925000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr6:4915200-4931600	Weak transcription	Esophagus	oesophagus
35	chr6:4915400-4920200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:4915400-4920800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:4915400-4921200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr6:4915400-4922200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:4915400-4922200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:4915400-4922200	Weak transcription	Lung	lung
41	chr6:4915400-4922800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:4915400-4927000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:4915400-4927800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:4915400-4928600	Weak transcription	HMEC	breast
45	chr6:4915400-4930200	Weak transcription	Fetal Muscle Leg	muscle
46	chr6:4915400-4930600	Weak transcription	Gastric	stomach
47	chr6:4915400-4931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:4915400-4931800	Weak transcription	Pancreas	Pancrea
49	chr6:4915600-4921200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr6:4915600-4931200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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