Variant report

Variant	esv3326413
Chromosome Location	chr6:13185696-13191025
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13182449..13185270-chr6:13189938..13191511,2	MCF-7	breast:
2	chr6:13184861..13186722-chr6:13190898..13192711,2	MCF-7	breast:
3	chr6:13184861..13186722-chr6:13190898..13192711,2	MCF-7	breast:
4	chr6:13184097..13187942-chr6:13192836..13196557,4	K562	blood:

Variant related genes	Relation type
ENSG00000112137	chromatin interactions

Extended variants
information (count: 231 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:231 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200819029	chr6:13185698-13185699	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115124103	chr6:13185715-13185716	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536256142	chr6:13185732-13185733	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556265536	chr6:13185733-13185734	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576218902	chr6:13185746-13185747	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186426072	chr6:13185791-13185792	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75854944	chr6:13185792-13185793	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79211433	chr6:13185828-13185829	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541321871	chr6:13185854-13185855	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554846358	chr6:13185855-13185856	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577859283	chr6:13185866-13185867	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574466305	chr6:13185900-13185901	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556619740	chr6:13185906-13185907	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543430157	chr6:13185934-13185935	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368398468	chr6:13185967-13185968	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189278647	chr6:13185971-13185972	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563450488	chr6:13185995-13185996	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545182859	chr6:13186007-13186008	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149598865	chr6:13186018-13186019	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527488652	chr6:13186019-13186020	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139091938	chr6:13186047-13186048	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181953024	chr6:13186060-13186061	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35775491	chr6:13186090-13186091	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369233096	chr6:13186161-13186162	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556627424	chr6:13186215-13186216	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143235061	chr6:13186231-13186232	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569710325	chr6:13186243-13186244	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538396541	chr6:13186246-13186247	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185176389	chr6:13186273-13186274	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566095895	chr6:13186288-13186289	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191118348	chr6:13186316-13186317	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554809673	chr6:13186317-13186318	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573476848	chr6:13186359-13186360	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574831389	chr6:13186366-13186367	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111842614	chr6:13186380-13186381	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576373045	chr6:13186395-13186396	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147499768	chr6:13186401-13186402	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182906187	chr6:13186406-13186407	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545935424	chr6:13186468-13186469	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559798784	chr6:13186487-13186488	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545264172	chr6:13186495-13186496	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140225783	chr6:13186518-13186519	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561150641	chr6:13186531-13186532	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530043988	chr6:13186577-13186578	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549794084	chr6:13186578-13186579	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569509671	chr6:13186599-13186600	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532138447	chr6:13186610-13186611	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551958749	chr6:13186629-13186630	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565786139	chr6:13186710-13186711	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534875685	chr6:13186771-13186772	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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	21448237	CNVD
Autism	22495311	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
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
Metastatic melanoma	18483359	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13172800-13191800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:13176400-13191200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:13178800-13187200	Weak transcription	Spleen	Spleen
4	chr6:13178800-13191400	Weak transcription	Left Ventricle	heart
5	chr6:13178800-13217400	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:13181600-13190600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:13182000-13187200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:13182000-13188000	Weak transcription	Fetal Stomach	stomach
9	chr6:13182000-13205400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr6:13182000-13211800	Weak transcription	Fetal Brain Female	brain
11	chr6:13182000-13212000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:13182000-13230000	Weak transcription	Brain Angular Gyrus	brain
13	chr6:13182200-13192800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:13182800-13188200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr6:13182800-13188600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr6:13183000-13195200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:13183000-13207000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:13183800-13187000	Enhancers	Fetal Heart	heart
19	chr6:13184000-13188600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:13184000-13190600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:13184000-13220800	Weak transcription	Brain Germinal Matrix	brain
22	chr6:13184200-13197000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr6:13184400-13186400	Weak transcription	Fetal Intestine Small	intestine
24	chr6:13184800-13185800	Enhancers	Stomach Mucosa	stomach
25	chr6:13185000-13191600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:13185000-13202800	Weak transcription	Brain Anterior Caudate	brain
27	chr6:13185200-13191400	Weak transcription	Right Ventricle	heart
28	chr6:13185200-13204000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:13185200-13205200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:13185400-13192400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:13185400-13204800	Weak transcription	Lung	lung
32	chr6:13185400-13205800	Weak transcription	Aorta	Aorta
33	chr6:13185400-13205800	Weak transcription	Pancreas	Pancrea
34	chr6:13185600-13188600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:13185800-13191600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr6:13187000-13187400	Weak transcription	Fetal Heart	heart
37	chr6:13187000-13187800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr6:13187200-13187400	Enhancers	Spleen	Spleen
39	chr6:13187200-13187600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:13187400-13187600	Enhancers	Fetal Heart	heart
41	chr6:13187400-13217400	Weak transcription	Right Atrium	heart
42	chr6:13187600-13188600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:13187600-13191200	Weak transcription	Fetal Heart	heart
44	chr6:13187800-13192600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr6:13188200-13189000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr6:13188400-13189200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:13188600-13189000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr6:13188600-13189200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:13188800-13189000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr6:13189000-13189200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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