Variant report

Variant	esv3340708
Chromosome Location	chr6:35135274-35139572
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:35114684..35117968-chr6:35132724..35136247,4	MCF-7	breast:
2	chr6:35132640..35135454-chr6:35205817..35208602,3	MCF-7	breast:
3	chr6:35136063..35139125-chr6:35139498..35141793,3	K562	blood:
4	chr6:35134254..35136193-chr6:35463706..35465770,2	MCF-7	breast:
5	chr6:35126225..35131731-chr6:35132022..35136988,7	MCF-7	breast:
6	chr6:35134724..35136511-chr6:35174942..35176487,2	K562	blood:
7	chr6:35131417..35136766-chr6:35169545..35174762,6	MCF-7	breast:
8	chr6:35133862..35136127-chr6:35165678..35167880,2	MCF-7	breast:
9	chr6:35139023..35142448-chr6:35162991..35165848,3	MCF-7	breast:
10	chr6:35134997..35137568-chr6:35225872..35228081,2	MCF-7	breast:
11	chr6:35133125..35135139-chr6:35138368..35141199,2	K562	blood:
12	chr6:35127079..35138793-chr6:35145525..35157743,32	MCF-7	breast:
13	chr6:35136063..35139125-chr6:35139498..35141793,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000065029	chromatin interactions
ENSG00000007866	chromatin interactions
ENSG00000124678	chromatin interactions

Extended variants
information (count: 170 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375529146	chr6:35135331-35135332	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs35341488	chr6:35135423-35135424	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs116488966	chr6:35135453-35135454	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs573843922	chr6:35135519-35135520	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs544454219	chr6:35135548-35135549	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs555946451	chr6:35135558-35135559	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs577391546	chr6:35135588-35135589	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs139903952	chr6:35135613-35135614	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs188299725	chr6:35135647-35135648	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs553229695	chr6:35135650-35135651	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs56899642	chr6:35135672-35135673	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs9394278	chr6:35135707-35135708	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs1408255	chr6:35135714-35135715	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs529566353	chr6:35135715-35135716	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs192513697	chr6:35135721-35135722	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs569494188	chr6:35135737-35135738	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs533530381	chr6:35135744-35135745	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs557181746	chr6:35135780-35135781	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs60529945	chr6:35135786-35135787	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533825896	chr6:35135813-35135814	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs183836255	chr6:35135883-35135884	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs567206922	chr6:35135889-35135890	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs537775426	chr6:35135903-35135904	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs556007873	chr6:35135932-35135933	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs111508781	chr6:35135948-35135949	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs139295872	chr6:35135952-35135953	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs60644439	chr6:35135995-35135996	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs557875976	chr6:35136113-35136114	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs6931790	chr6:35136130-35136131	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs6911268	chr6:35136151-35136152	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs186831946	chr6:35136154-35136155	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs573949997	chr6:35136157-35136158	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs544592716	chr6:35136209-35136210	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs563158648	chr6:35136210-35136211	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs149996378	chr6:35136224-35136225	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs367944275	chr6:35136236-35136237	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs28535041	chr6:35136238-35136239	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs551995094	chr6:35136244-35136245	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs562115477	chr6:35136261-35136262	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs560761551	chr6:35136293-35136294	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs191232401	chr6:35136364-35136365	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs149220145	chr6:35136374-35136375	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs184252152	chr6:35136387-35136388	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs375119501	chr6:35136442-35136443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs537835383	chr6:35136493-35136494	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs549693995	chr6:35136537-35136538	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs147935428	chr6:35136557-35136558	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs187030708	chr6:35136573-35136574	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs113625924	chr6:35136596-35136597	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs78485823	chr6:35136638-35136639	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21510904	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	17426248	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35128600-35137400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:35128800-35137400	Weak transcription	Brain Angular Gyrus	brain
3	chr6:35130200-35136000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:35130600-35141400	Weak transcription	Brain Substantia Nigra	brain
5	chr6:35130800-35136200	Weak transcription	Left Ventricle	heart
6	chr6:35131000-35137400	Weak transcription	Lung	lung
7	chr6:35132200-35135600	Enhancers	Stomach Mucosa	stomach
8	chr6:35133600-35136000	Weak transcription	Fetal Kidney	kidney
9	chr6:35134000-35137400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:35134200-35136600	Weak transcription	Fetal Stomach	stomach
11	chr6:35134200-35137400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:35134200-35137400	Weak transcription	NH-A	brain
13	chr6:35134400-35137200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:35134400-35137400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr6:35134400-35137400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:35134400-35137400	Weak transcription	Osteobl	bone
17	chr6:35134400-35137600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:35134400-35140400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:35134600-35136000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:35134600-35136000	Weak transcription	Fetal Lung	lung
21	chr6:35134600-35136600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:35134600-35136600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:35134600-35137400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:35134600-35137400	Weak transcription	NHDF-Ad	bronchial
25	chr6:35134600-35137800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:35134800-35137400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:35134800-35137400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr6:35135000-35137400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:35135000-35137400	Weak transcription	Gastric	stomach
30	chr6:35135000-35148800	Weak transcription	Esophagus	oesophagus
31	chr6:35135600-35138600	Weak transcription	Stomach Mucosa	stomach
32	chr6:35135800-35137000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:35136000-35136600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:35136000-35136800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr6:35136000-35137000	Enhancers	Fetal Heart	heart
36	chr6:35136000-35137000	Enhancers	Fetal Kidney	kidney
37	chr6:35136000-35137000	Enhancers	Fetal Lung	lung
38	chr6:35136200-35136800	Enhancers	Ovary	ovary
39	chr6:35136200-35137000	Enhancers	Left Ventricle	heart
40	chr6:35136400-35137000	Enhancers	Fetal Thymus	thymus
41	chr6:35136600-35136800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:35136600-35136800	Enhancers	Fetal Stomach	stomach
43	chr6:35136600-35137000	Enhancers	Right Atrium	heart
44	chr6:35136600-35137600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:35136600-35139400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr6:35136600-35139600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:35136800-35137200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:35137000-35137400	Weak transcription	Fetal Kidney	kidney
49	chr6:35137000-35141600	Weak transcription	Fetal Heart	heart
50	chr6:35137000-35141600	Weak transcription	Left Ventricle	heart

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