Variant report

Variant	esv2762581
Chromosome Location	chr6:15763793-15774802
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:15739404..15741557-chr6:15764680..15767519,2	K562	blood:
2	chr6:15770365..15771122-chr6:16183059..16183965,2	MCF-7	breast:
3	chr6:15769393..15771029-chr6:15905967..15908693,2	MCF-7	breast:
4	chr6:15768943..15771188-chr6:15931054..15932857,2	K562	blood:
5	chr6:15769944..15772449-chr6:16127931..16130991,3	K562	blood:
6	chr6:15759762..15765920-chr6:16126887..16131377,7	MCF-7	breast:
7	chr6:15763498..15765929-chr6:15906777..15908450,2	MCF-7	breast:
8	chr6:15755559..15757788-chr6:15768543..15770822,3	K562	blood:
9	chr6:15767469..15773334-chr6:16127835..16130840,9	MCF-7	breast:
10	chr6:15768418..15771431-chr6:16127992..16131579,4	MCF-7	breast:
11	chr6:15767905..15772449-chr6:16128086..16131802,6	K562	blood:
12	chr6:15760446..15762899-chr6:15770355..15772720,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000007944	chromatin interactions

Extended variants
information (count: 383 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs420350	chr6:15763793-15763794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189328164	chr6:15763812-15763813	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs373556243	chr6:15763870-15763871	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs180890184	chr6:15763931-15763932	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs74804237	chr6:15763980-15763981	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558701203	chr6:15764048-15764049	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs140115780	chr6:15764091-15764092	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs540762394	chr6:15764181-15764182	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs143831166	chr6:15764215-15764216	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs151165375	chr6:15764226-15764227	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs543396381	chr6:15764327-15764328	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs140238743	chr6:15764340-15764341	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs150296279	chr6:15764341-15764342	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs116611346	chr6:15764347-15764348	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs565844354	chr6:15764482-15764483	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs545023251	chr6:15764534-15764535	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs547600043	chr6:15764542-15764543	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs185775319	chr6:15764618-15764619	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs441539	chr6:15764638-15764639	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs372855947	chr6:15764640-15764641	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs375310	chr6:15764675-15764676	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs144867882	chr6:15764698-15764699	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs141967907	chr6:15764745-15764746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs558810533	chr6:15764840-15764841	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs572333388	chr6:15764855-15764856	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs190290592	chr6:15764904-15764905	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs554408239	chr6:15764919-15764920	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs574433866	chr6:15764963-15764964	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs9383075	chr6:15765001-15765002	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs181149887	chr6:15765033-15765034	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs9383076	chr6:15765050-15765051	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs186178123	chr6:15765072-15765073	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs559662349	chr6:15765087-15765088	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs190552625	chr6:15765150-15765151	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs398785	chr6:15765211-15765212	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs566623368	chr6:15765231-15765232	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs561232564	chr6:15765251-15765252	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs530183844	chr6:15765266-15765267	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs549925731	chr6:15765267-15765268	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569750665	chr6:15765279-15765280	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs570603995	chr6:15765317-15765318	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs538627658	chr6:15765355-15765356	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs391939	chr6:15765382-15765383	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs540612858	chr6:15765408-15765409	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs566022914	chr6:15765416-15765417	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs534898230	chr6:15765460-15765461	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs184042569	chr6:15765461-15765462	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs574469563	chr6:15765573-15765574	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs567772929	chr6:15765576-15765577	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs537113009	chr6:15765590-15765591	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
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
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21364760	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
Breast cancer	17142309	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian cancer	20844748	CNVD
Developmental delay	19490664	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15759200-15770000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:15759800-15764200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:15762200-15764000	Weak transcription	Stomach Mucosa	stomach
4	chr6:15762200-15782000	Weak transcription	Pancreas	Pancrea
5	chr6:15763200-15766000	Enhancers	Fetal Intestine Large	intestine
6	chr6:15763400-15765200	Enhancers	Liver	Liver
7	chr6:15763400-15765600	Enhancers	Fetal Intestine Small	intestine
8	chr6:15763600-15763800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr6:15763600-15764200	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr6:15763600-15764400	Enhancers	NHDF-Ad	bronchial
11	chr6:15763600-15764800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:15763600-15764800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:15763600-15764800	Enhancers	Adipose Nuclei	Adipose
14	chr6:15763600-15764800	Enhancers	Fetal Kidney	kidney
15	chr6:15763600-15765000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:15763600-15765000	Enhancers	Duodenum Mucosa	Duodenum
17	chr6:15763600-15765000	Enhancers	Fetal Lung	lung
18	chr6:15763600-15765600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr6:15763800-15764400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr6:15763800-15764600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr6:15763800-15764600	Enhancers	HepG2	liver
22	chr6:15763800-15764800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr6:15763800-15764800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:15763800-15764800	Enhancers	Fetal Heart	heart
25	chr6:15763800-15764800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr6:15763800-15765000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:15764000-15764200	Enhancers	NH-A	brain
28	chr6:15764000-15764400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr6:15764000-15764400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:15764000-15764400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:15764000-15764400	Enhancers	Fetal Stomach	stomach
32	chr6:15764000-15764400	Enhancers	Left Ventricle	heart
33	chr6:15764000-15764400	Enhancers	Stomach Mucosa	stomach
34	chr6:15764000-15764600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr6:15764000-15764600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:15764000-15764600	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr6:15764000-15764600	Enhancers	Fetal Muscle Leg	muscle
38	chr6:15764000-15764600	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr6:15764000-15764600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr6:15764200-15764600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr6:15764200-15764600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr6:15764200-15764600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr6:15764200-15764600	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr6:15764200-15764800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:15764200-15765000	Enhancers	Gastric	stomach
46	chr6:15764400-15764600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr6:15764400-15764600	Enhancers	NHLF	lung
48	chr6:15764400-15765000	Enhancers	Rectal Smooth Muscle	rectum
49	chr6:15764400-15768800	Weak transcription	K562	blood
50	chr6:15764600-15765000	Enhancers	Pancreatic Islets	Pancreatic Islet

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