Variant report

Variant	esv2229610
Chromosome Location	chr6:24448369-24448785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:24447065..24450391-chr6:24494132..24495678,3	K562	blood:
2	chr6:24446917..24448479-chr6:24451269..24452965,2	MCF-7	breast:
3	chr6:24431522..24434175-chr6:24447084..24450027,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112293	chromatin interactions
ENSG00000112294	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558604302	chr6:24448380-24448381	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs61739665	chr6:24448394-24448395	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs557082764	chr6:24448398-24448399	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs13191455	chr6:24448459-24448460	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs140486588	chr6:24448555-24448556	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs374134711	chr6:24448557-24448558	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs371291296	chr6:24448595-24448596	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs373007352	chr6:24448610-24448611	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs148002978	chr6:24448614-24448615	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs575183990	chr6:24448641-24448642	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs575077973	chr6:24448645-24448646	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs557871056	chr6:24448646-24448647	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs13205577	chr6:24448648-24448649	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs559426128	chr6:24448667-24448668	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs13205780	chr6:24448687-24448688	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs57218689	chr6:24448700-24448701	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs28633883	chr6:24448701-24448702	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs1772254	chr6:24448734-24448735	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530739722	chr6:24448749-24448750	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
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
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
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
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
XY gonadal dysgenesis	20685758	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24417400-24451800	Strong transcription	Liver	Liver
2	chr6:24421200-24448800	Weak transcription	Gastric	stomach
3	chr6:24421200-24459600	Weak transcription	Spleen	Spleen
4	chr6:24424000-24456600	Weak transcription	Ovary	ovary
5	chr6:24427600-24456800	Weak transcription	Lung	lung
6	chr6:24427800-24467000	Weak transcription	Brain Germinal Matrix	brain
7	chr6:24428200-24449400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:24429000-24494200	Weak transcription	Primary B cells from cord blood	blood
9	chr6:24429200-24455600	Weak transcription	Brain Angular Gyrus	brain
10	chr6:24429400-24483800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:24429600-24455000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:24430800-24448400	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:24432600-24463800	Weak transcription	Fetal Intestine Small	intestine
14	chr6:24433600-24451600	Weak transcription	Adipose Nuclei	Adipose
15	chr6:24437600-24455400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:24437800-24450600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr6:24437800-24459600	Weak transcription	Left Ventricle	heart
18	chr6:24438000-24464000	Weak transcription	Pancreas	Pancrea
19	chr6:24438200-24455600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:24438400-24448600	Weak transcription	Right Ventricle	heart
21	chr6:24438400-24483200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:24438600-24459800	Weak transcription	Fetal Stomach	stomach
23	chr6:24438800-24469200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr6:24440400-24452000	Weak transcription	Primary T cells from cord blood	blood
25	chr6:24441400-24452000	Weak transcription	Thymus	Thymus
26	chr6:24442000-24452000	Weak transcription	Fetal Thymus	thymus
27	chr6:24444000-24449200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:24444000-24458200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr6:24445400-24448400	Strong transcription	Stomach Smooth Muscle	stomach
30	chr6:24445600-24448800	Strong transcription	Fetal Muscle Leg	muscle
31	chr6:24446000-24449200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr6:24446400-24448600	Weak transcription	Fetal Brain Female	brain
33	chr6:24446400-24449400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:24446400-24451600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:24446400-24451800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:24446800-24448800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr6:24447200-24470200	Weak transcription	Aorta	Aorta
38	chr6:24447400-24490400	Weak transcription	Brain Anterior Caudate	brain
39	chr6:24448000-24448400	Enhancers	K562	blood
40	chr6:24448200-24466200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr6:24448400-24452000	Weak transcription	K562	blood
42	chr6:24448400-24458000	Weak transcription	Stomach Smooth Muscle	stomach

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