Variant report

Variant	esv15227
Chromosome Location	chr6:31233995-31235828
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:31232397..31234509-chr6:31319658..31321454,2	MCF-7	breast:
2	chr6:31235298..31236799-chr6:31321704..31323597,2	K562	blood:
3	chr6:31234807..31237311-chr6:31237898..31240961,3	K562	blood:
4	chr6:31233619..31236964-chr6:31319655..31321766,4	MCF-7	breast:
5	chr6:31176797..31178729-chr6:31234671..31236847,2	K562	blood:

Variant related genes	Relation type
ENSG00000204525	chromatin interactions
ENSG00000234745	chromatin interactions

Extended variants
information (count: 182 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112708042	chr6:31234007-31234008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529757315	chr6:31234015-31234016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548341131	chr6:31234033-31234034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563365344	chr6:31234035-31234036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530818607	chr6:31234047-31234048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9264528	chr6:31234058-31234059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs532267952	chr6:31234061-31234062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9264529	chr6:31234074-31234075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs547030753	chr6:31234084-31234085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568538108	chr6:31234097-31234098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565321255	chr6:31234101-31234102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2248902	chr6:31234114-31234115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs569388572	chr6:31234115-31234116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114060342	chr6:31234130-31234131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35556213	chr6:31234131-31234132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs536788090	chr6:31234135-31234136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116170779	chr6:31234138-31234139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114638222	chr6:31234139-31234140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578232040	chr6:31234145-31234146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73730325	chr6:31234150-31234151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs140571779	chr6:31234162-31234163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563490248	chr6:31234195-31234196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539433672	chr6:31234201-31234202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72502555	chr6:31234208-31234209	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs546028156	chr6:31234210-31234211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188691326	chr6:31234211-31234212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35303934	chr6:31234222-31234223	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs386698945	chr6:31234238-31234239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9264531	chr6:31234239-31234240	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs576470761	chr6:31234251-31234252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs67524139	chr6:31234282-31234283	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs73730328	chr6:31234283-31234284	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs80156061	chr6:31234311-31234312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539607610	chr6:31234321-31234322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200488836	chr6:31234324-31234325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146455018	chr6:31234326-31234327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs56069448	chr6:31234327-31234328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557947905	chr6:31234328-31234329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566798909	chr6:31234333-31234334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112078046	chr6:31234339-31234340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200112385	chr6:31234355-31234356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375273270	chr6:31234359-31234360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9264532	chr6:31234381-31234382	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs112239221	chr6:31234396-31234397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552536126	chr6:31234401-31234402	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73730329	chr6:31234423-31234424	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs193194451	chr6:31234433-31234434	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73730331	chr6:31234442-31234443	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs9348858	chr6:31234462-31234463	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs9264533	chr6:31234494-31234495	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:122)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Ovarian cancer	21781307	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
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
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31228200-31235800	Weak transcription	Fetal Thymus	thymus
2	chr6:31228400-31235400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:31228600-31234800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr6:31230200-31235600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:31231000-31234600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr6:31231800-31235600	Weak transcription	Left Ventricle	heart
7	chr6:31232400-31235400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:31232600-31235600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:31232600-31236800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr6:31232800-31235600	Weak transcription	Colonic Mucosa	Colon
11	chr6:31232800-31235800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:31233000-31235200	Weak transcription	Primary T cells from cord blood	blood
13	chr6:31233000-31235400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:31233200-31235600	Weak transcription	Liver	Liver
15	chr6:31233200-31235800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:31233200-31235800	Weak transcription	Placenta	Placenta
17	chr6:31233200-31236000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:31233200-31236600	Weak transcription	HMEC	breast
19	chr6:31233200-31238200	Weak transcription	Stomach Mucosa	stomach
20	chr6:31233200-31238400	Weak transcription	Small Intestine	intestine
21	chr6:31233400-31234400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr6:31233400-31235400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:31233400-31235600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr6:31233400-31235800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr6:31233400-31235800	Weak transcription	Adipose Nuclei	Adipose
26	chr6:31233400-31235800	Weak transcription	GM12878-XiMat	blood
27	chr6:31233400-31236200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr6:31233600-31235800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:31233600-31236400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:31233800-31234000	Enhancers	Primary B cells from cord blood	blood
31	chr6:31233800-31234000	Enhancers	Primary T cells fromperipheralblood	blood
32	chr6:31233800-31235400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr6:31233800-31236000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:31233800-31236400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:31233800-31236600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr6:31233800-31236800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr6:31234000-31234200	Weak transcription	Spleen	Spleen
38	chr6:31234000-31234600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr6:31234000-31235400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:31234000-31235400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr6:31234000-31235600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:31234000-31235800	Weak transcription	Esophagus	oesophagus
43	chr6:31234000-31235800	Weak transcription	Gastric	stomach
44	chr6:31234000-31236000	Weak transcription	Primary B cells from cord blood	blood
45	chr6:31234000-31236200	Weak transcription	Aorta	Aorta
46	chr6:31234000-31236800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr6:31234000-31237000	Weak transcription	Colon Smooth Muscle	Colon
48	chr6:31234200-31234600	Enhancers	Spleen	Spleen
49	chr6:31234200-31235800	Weak transcription	Thymus	Thymus
50	chr6:31234200-31236200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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