Variant report

Variant	esv990232
Chromosome Location	chr6:11555617-11556524
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	chr6:11546307..11549072-chr6:11554932..11556756,2	K562	blood:
2	chr6:11552654..11554519-chr6:11555824..11557962,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550927827	chr6:11555624-11555625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564490859	chr6:11555633-11555634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76522304	chr6:11555655-11555656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142178241	chr6:11555664-11555665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567058856	chr6:11555672-11555673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536002607	chr6:11555721-11555722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185244966	chr6:11555728-11555729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79660546	chr6:11555729-11555730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190488510	chr6:11555787-11555788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149729797	chr6:11555798-11555799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556523954	chr6:11555803-11555804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs56040297	chr6:11555878-11555879	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs539144462	chr6:11555909-11555910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs471560	chr6:11555912-11555913	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs193069690	chr6:11555962-11555963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185022099	chr6:11555979-11555980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79813778	chr6:11555987-11555988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555296648	chr6:11556046-11556047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115589395	chr6:11556060-11556061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188268859	chr6:11556087-11556088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181016729	chr6:11556107-11556108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200627458	chr6:11556108-11556109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377007893	chr6:11556410-11556411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369665043	chr6:11556411-11556412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374411051	chr6:11556460-11556461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564467496	chr6:11556469-11556470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs80179241	chr6:11556500-11556501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	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
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	20688739	CNVD
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11540600-11566600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:11541400-11556000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr6:11548000-11566600	Weak transcription	Placenta	Placenta
4	chr6:11548200-11565800	Weak transcription	Primary B cells from cord blood	blood
5	chr6:11551600-11566600	Weak transcription	Aorta	Aorta
6	chr6:11552800-11566800	Weak transcription	Brain Anterior Caudate	brain
7	chr6:11553000-11556400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:11553200-11556400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:11553200-11556400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr6:11553200-11556600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:11553200-11556600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:11553200-11556600	Weak transcription	Brain Substantia Nigra	brain
13	chr6:11553200-11565000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:11553400-11556000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr6:11553400-11556400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:11553400-11556600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr6:11553400-11565800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr6:11553400-11566600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr6:11553400-11566800	Weak transcription	Gastric	stomach
20	chr6:11553400-11567000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr6:11553600-11556400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:11554400-11556000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr6:11556000-11556400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr6:11556000-11556600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr6:11556000-11557400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr6:11556400-11557000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:11556400-11557200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr6:11556400-11557200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr6:11556400-11557400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:11556400-11557400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr6:11556400-11557400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr6:11556400-11557400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr6:11556400-11557400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr6:11556400-11557400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr6:11556400-11568000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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