Variant report

Variant	esv1848354
Chromosome Location	chr6:13235495-13250588
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13238401..13240269-chr6:13241272..13242998,2	K562	blood:
2	chr6:13234560..13237159-chr6:13237392..13240503,3	K562	blood:
3	chr6:13246618..13250195-chr6:13274363..13276198,3	K562	blood:
4	chr6:13224141..13226448-chr6:13237492..13239981,3	K562	blood:
5	chr6:13241474..13243088-chr6:13272742..13274411,2	K562	blood:
6	chr6:13238401..13240269-chr6:13241272..13242998,2	K562	blood:
7	chr6:13244619..13246352-chr6:13250637..13252515,2	K562	blood:
8	chr6:13235525..13237571-chr6:13272396..13274160,2	K562	blood:
9	chr6:13234560..13237159-chr6:13237392..13240503,3	K562	blood:
10	chr6:13243200..13244860-chr6:13246425..13248696,2	MCF-7	breast:
11	chr6:13243200..13244860-chr6:13246425..13248696,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000215022	chromatin interactions
ENSG00000112137	chromatin interactions

Extended variants
information (count: 583 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:583 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16873855	chr6:13235495-13235496	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374057210	chr6:13235534-13235535	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs574723506	chr6:13235541-13235542	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs536935460	chr6:13235553-13235554	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557268462	chr6:13235556-13235557	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs577065960	chr6:13235587-13235588	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs146958339	chr6:13235604-13235605	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs182477134	chr6:13235605-13235606	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs147581378	chr6:13235641-13235642	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs541981031	chr6:13235654-13235655	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs79436202	chr6:13235655-13235656	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs35223138	chr6:13235689-13235690	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs185275803	chr6:13235701-13235702	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs544484349	chr6:13235726-13235727	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs113731166	chr6:13235729-13235730	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs73355362	chr6:13235792-13235793	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs557971399	chr6:13235804-13235805	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs116502048	chr6:13235808-13235809	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs373041812	chr6:13235879-13235880	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs190378022	chr6:13235927-13235928	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs529330142	chr6:13235973-13235974	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182592433	chr6:13236034-13236035	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs142186362	chr6:13236035-13236036	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs537201664	chr6:13236064-13236065	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs376327029	chr6:13236069-13236070	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs550510700	chr6:13236079-13236080	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs143124071	chr6:13236085-13236086	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs188740121	chr6:13236105-13236106	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs536288793	chr6:13236130-13236131	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs572917913	chr6:13236150-13236151	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs74649739	chr6:13236289-13236290	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555395855	chr6:13236313-13236314	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs556107685	chr6:13236323-13236324	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs376394512	chr6:13236324-13236325	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs148280894	chr6:13236372-13236373	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs544761061	chr6:13236378-13236379	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs374017582	chr6:13236403-13236404	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs368204539	chr6:13236513-13236514	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs564544344	chr6:13236524-13236525	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs11754614	chr6:13236574-13236575	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs11751747	chr6:13236604-13236605	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs150204484	chr6:13236616-13236617	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs138728271	chr6:13236652-13236653	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs549110474	chr6:13236688-13236689	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs35749814	chr6:13236693-13236694	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs562959063	chr6:13236737-13236738	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531728060	chr6:13236746-13236747	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs550729296	chr6:13236752-13236753	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs34373947	chr6:13236754-13236755	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs192831034	chr6:13236755-13236756	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	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:220 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13208200-13239800	Weak transcription	Brain Substantia Nigra	brain
2	chr6:13217800-13242400	Weak transcription	Pancreas	Pancrea
3	chr6:13218400-13241000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr6:13227800-13235600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:13227800-13238600	Strong transcription	Stomach Smooth Muscle	stomach
6	chr6:13227800-13240000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:13227800-13244000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:13228000-13236000	Weak transcription	Fetal Brain Male	brain
9	chr6:13228400-13237200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:13229200-13240000	Weak transcription	Fetal Lung	lung
11	chr6:13229400-13248200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:13230000-13236000	Strong transcription	Brain Anterior Caudate	brain
13	chr6:13230000-13239800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr6:13230200-13242400	Weak transcription	Fetal Intestine Small	intestine
15	chr6:13230600-13253400	Weak transcription	Spleen	Spleen
16	chr6:13230800-13248000	Weak transcription	Fetal Muscle Leg	muscle
17	chr6:13231200-13248200	Weak transcription	Fetal Stomach	stomach
18	chr6:13232200-13235600	Strong transcription	Lung	lung
19	chr6:13232800-13239800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr6:13232800-13240000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr6:13232800-13240200	Weak transcription	Brain Hippocampus Middle	brain
22	chr6:13232800-13243800	Weak transcription	Fetal Brain Female	brain
23	chr6:13233200-13236200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:13233200-13239800	Weak transcription	Brain Angular Gyrus	brain
25	chr6:13233200-13256000	Weak transcription	Right Ventricle	heart
26	chr6:13233400-13236000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr6:13233600-13236600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr6:13234000-13236000	Strong transcription	Brain Germinal Matrix	brain
29	chr6:13234000-13236200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:13234200-13235600	Enhancers	Liver	Liver
31	chr6:13234200-13235600	Enhancers	NHDF-Ad	bronchial
32	chr6:13234400-13236200	Weak transcription	Left Ventricle	heart
33	chr6:13234600-13238800	Weak transcription	Aorta	Aorta
34	chr6:13234600-13239800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:13234600-13267200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:13234800-13236600	Weak transcription	Fetal Heart	heart
37	chr6:13235200-13239800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:13235200-13248200	Weak transcription	HSMMtube	muscle
39	chr6:13235400-13235600	Enhancers	GM12878-XiMat	blood
40	chr6:13235400-13236200	Enhancers	Primary B cells from peripheral blood	blood
41	chr6:13235600-13237400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:13235600-13240000	Weak transcription	Lung	lung
43	chr6:13235800-13236000	Enhancers	Primary B cells from cord blood	blood
44	chr6:13236000-13237600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr6:13236000-13238000	Weak transcription	Brain Anterior Caudate	brain
46	chr6:13236000-13248000	Weak transcription	Brain Germinal Matrix	brain
47	chr6:13236200-13236800	Enhancers	Left Ventricle	heart
48	chr6:13236200-13239000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:13236200-13239400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:13236600-13237000	Strong transcription	Primary hematopoietic stem cells	blood

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