Variant report

Variant	esv3425907
Chromosome Location	chr6:14912330-14912632
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182600891	chr6:14912357-14912358	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs531338231	chr6:14912367-14912368	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs430277	chr6:14912369-14912370	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs571130733	chr6:14912396-14912397	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs533690578	chr6:14912406-14912407	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs386697386	chr6:14912464-14912465	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs12195833	chr6:14912465-14912466	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs536542632	chr6:14912489-14912490	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs149398879	chr6:14912552-14912553	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs187817396	chr6:14912569-14912570	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs571330844	chr6:14912579-14912580	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs558239702	chr6:14912608-14912609	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
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	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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14894400-14912400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:14894400-14915800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:14902600-14921400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:14905800-14924800	Weak transcription	Esophagus	oesophagus
5	chr6:14908400-14912600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:14909200-14913200	Weak transcription	Small Intestine	intestine
7	chr6:14909400-14913600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr6:14910200-14912800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:14910200-14913400	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:14910400-14912400	Enhancers	Dnd41	blood
11	chr6:14910400-14912800	Enhancers	Spleen	Spleen
12	chr6:14910400-14913000	Enhancers	Fetal Thymus	thymus
13	chr6:14910400-14913200	Enhancers	K562	blood
14	chr6:14910400-14913400	Enhancers	Thymus	Thymus
15	chr6:14910600-14913200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:14911200-14912400	Weak transcription	Gastric	stomach
17	chr6:14911200-14912400	Weak transcription	Pancreas	Pancrea
18	chr6:14911200-14912600	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr6:14911400-14912400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr6:14911400-14912400	Weak transcription	Stomach Mucosa	stomach
21	chr6:14911400-14912600	Enhancers	Primary hematopoietic stem cells	blood
22	chr6:14911400-14912600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr6:14911400-14913200	ZNF genes & repeats	GM12878-XiMat	blood
24	chr6:14911400-14913400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:14911400-14916400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:14911600-14912400	Enhancers	Primary T cells from cord blood	blood
27	chr6:14911600-14912800	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr6:14911600-14913400	Enhancers	Primary B cells from cord blood	blood
29	chr6:14911600-14913400	Enhancers	Colon Smooth Muscle	Colon
30	chr6:14911800-14912800	Enhancers	Adipose Nuclei	Adipose
31	chr6:14911800-14913000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr6:14911800-14913200	Enhancers	Duodenum Mucosa	Duodenum
33	chr6:14911800-14913600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr6:14912000-14913200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr6:14912000-14913200	Enhancers	Fetal Kidney	kidney
36	chr6:14912000-14913400	Enhancers	Placenta	Placenta
37	chr6:14912000-14914000	Enhancers	Fetal Stomach	stomach
38	chr6:14912200-14912800	Weak transcription	Right Atrium	heart
39	chr6:14912200-14913600	Enhancers	Rectal Smooth Muscle	rectum
40	chr6:14912400-14912600	Enhancers	Gastric	stomach
41	chr6:14912400-14912800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr6:14912400-14913000	Enhancers	H9 Cell Line	embryonic stem cell
43	chr6:14912400-14913000	Enhancers	Stomach Mucosa	stomach
44	chr6:14912400-14913400	Enhancers	Pancreas	Pancrea
45	chr6:14912400-14914000	Enhancers	Ovary	ovary
46	chr6:14912600-14912800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr6:14912600-14912800	Enhancers	Fetal Muscle Trunk	muscle
48	chr6:14912600-14912800	Flanking Active TSS	Gastric	stomach
49	chr6:14912600-14913800	Enhancers	HUES6 Cell Line	embryonic stem cell

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