Variant report

Variant	esv3327708
Chromosome Location	chr6:27683503-27692934
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27684698..27689044-chr6:27689656..27693289,4	K562	blood:
2	chr6:27658926..27663446-chr6:27685398..27690588,6	K562	blood:
3	chr6:27660493..27662208-chr6:27687324..27689056,2	MCF-7	breast:
4	chr6:27687897..27691780-chr6:27691811..27694513,3	MCF-7	breast:
5	chr6:27665264..27666796-chr6:27688059..27690362,2	K562	blood:
6	chr6:27684698..27689044-chr6:27689656..27693289,4	K562	blood:
7	chr6:27659151..27662876-chr6:27687364..27691190,4	K562	blood:
8	chr6:27683083..27685640-chr6:27686917..27688772,2	MCF-7	breast:
9	chr6:27114795..27117088-chr6:27688794..27690487,2	K562	blood:
10	chr6:27676729..27679149-chr6:27683111..27685492,2	K562	blood:
11	chr6:27100798..27103607-chr6:27688775..27690811,2	K562	blood:
12	chr6:27690338..27692656-chr6:27698623..27701642,3	K562	blood:
13	chr6:27687897..27691780-chr6:27691811..27694513,3	MCF-7	breast:
14	chr6:27692126..27696307-chr6:27696693..27700869,4	K562	blood:
15	chr6:27677806..27681371-chr6:27682071..27685052,3	K562	blood:
16	chr6:27683083..27685640-chr6:27686917..27688772,2	MCF-7	breast:
17	chr6:27688928..27690631-chr6:27710497..27712546,2	MCF-7	breast:
18	chr6:27687163..27689366-chr6:27693364..27696456,4	K562	blood:
19	chr6:27686786..27690624-chr6:27717358..27721129,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265565	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000184825	chromatin interactions

Extended variants
information (count: 333 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149822715	chr6:27683514-27683515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs70981202	chr6:27683517-27683518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529873620	chr6:27683557-27683558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9380010	chr6:27683572-27683573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs566627453	chr6:27683585-27683586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188544171	chr6:27683591-27683592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552222519	chr6:27683597-27683598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571598274	chr6:27683615-27683616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533147979	chr6:27683627-27683628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113966211	chr6:27683640-27683641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75314372	chr6:27683673-27683674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35427683	chr6:27683748-27683749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9368528	chr6:27683798-27683799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs114698610	chr6:27683842-27683843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9380011	chr6:27683924-27683925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs553545578	chr6:27683925-27683926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78994292	chr6:27683944-27683945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192882438	chr6:27683976-27683977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150621288	chr6:27683987-27683988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565486797	chr6:27684005-27684006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555415161	chr6:27684048-27684049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116451480	chr6:27684082-27684083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544234435	chr6:27684142-27684143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200584335	chr6:27684204-27684205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560920010	chr6:27684248-27684249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373657271	chr6:27684250-27684251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150532055	chr6:27684254-27684255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs57782473	chr6:27684265-27684266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529838296	chr6:27684299-27684300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75947962	chr6:27684343-27684344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140005718	chr6:27684372-27684373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560279702	chr6:27684471-27684472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72845876	chr6:27684507-27684508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs372796802	chr6:27684619-27684620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28800016	chr6:27684627-27684628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9368529	chr6:27684631-27684632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs9380012	chr6:27684654-27684655	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs550581563	chr6:27684755-27684756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141885158	chr6:27684780-27684781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146265267	chr6:27684797-27684798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539563577	chr6:27684811-27684812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139352168	chr6:27684852-27684853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149928605	chr6:27684857-27684858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538902924	chr6:27684858-27684859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559163342	chr6:27684892-27684893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144978895	chr6:27684932-27684933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544200774	chr6:27684965-27684966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573369525	chr6:27684967-27684968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79223588	chr6:27685061-27685062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148638663	chr6:27685102-27685103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Lung cancer	18438408	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
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	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
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
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27662400-27684600	Weak transcription	Lung	lung
2	chr6:27662400-27685600	Weak transcription	Esophagus	oesophagus
3	chr6:27662600-27684000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:27662800-27684000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr6:27662800-27684800	Weak transcription	Fetal Kidney	kidney
6	chr6:27662800-27688400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:27662800-27688600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:27662800-27689000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:27663000-27688600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:27663200-27683800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:27663200-27688400	Weak transcription	HMEC	breast
12	chr6:27663400-27687800	Weak transcription	NHEK	skin
13	chr6:27664600-27684600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:27668200-27684400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr6:27669800-27684400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr6:27671400-27687200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:27671600-27688600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:27673000-27684800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr6:27673200-27684800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr6:27673600-27687600	Weak transcription	Fetal Intestine Small	intestine
21	chr6:27674600-27687000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr6:27675200-27685000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr6:27677800-27683600	Weak transcription	Small Intestine	intestine
24	chr6:27678800-27684000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:27678800-27689000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:27679000-27685000	Weak transcription	Fetal Lung	lung
27	chr6:27679200-27686600	Weak transcription	Fetal Brain Male	brain
28	chr6:27679400-27688400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:27681200-27683800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr6:27681200-27685000	Weak transcription	Fetal Thymus	thymus
31	chr6:27681200-27685200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr6:27681200-27685600	Weak transcription	Primary T cells from cord blood	blood
33	chr6:27681200-27685600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr6:27681200-27686600	Weak transcription	K562	blood
35	chr6:27681200-27687000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr6:27681200-27687200	Weak transcription	HepG2	liver
37	chr6:27681200-27688200	Weak transcription	A549	lung
38	chr6:27681200-27688600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr6:27681200-27688600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:27681200-27688600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:27681200-27688800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:27681200-27688800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:27681400-27684200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr6:27681400-27684400	Weak transcription	Thymus	Thymus
45	chr6:27681400-27686200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr6:27681600-27692200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:27681800-27683800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr6:27681800-27683800	Weak transcription	Brain Germinal Matrix	brain
49	chr6:27681800-27684600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:27681800-27684800	Weak transcription	Primary B cells from peripheral blood	blood

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