Variant report

Variant	esv3381561
Chromosome Location	chr6:35648556-35649017
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35648425..35651591-chr6:35653901..35657943,7	MCF-7	breast:
2	chr6:35630921..35633784-chr6:35647423..35649794,2	K562	blood:
3	chr6:35630921..35632833-chr6:35646769..35648923,2	K562	blood:
4	chr6:35636915..35638767-chr6:35648462..35650583,2	K562	blood:
5	chr6:35646147..35649006-chr6:35694213..35696052,2	K562	blood:

Variant related genes	Relation type
ENSG00000096060	chromatin interactions
ENSG00000265527	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186644972	chr6:35648582-35648583	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs555709006	chr6:35648669-35648670	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs574261850	chr6:35648672-35648673	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs544621188	chr6:35648702-35648703	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs562901559	chr6:35648718-35648719	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs577571155	chr6:35648765-35648766	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs377719651	chr6:35648772-35648773	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs146119681	chr6:35648784-35648785	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs560180408	chr6:35648802-35648803	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs115403670	chr6:35648813-35648814	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs549141293	chr6:35648823-35648824	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs6457839	chr6:35648830-35648831	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs6923648	chr6:35648905-35648906	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549762474	chr6:35648957-35648958	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs571574799	chr6:35649012-35649013	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Lung cancer	19153074	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35631200-35655000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:35631400-35654400	Weak transcription	Aorta	Aorta
3	chr6:35631600-35652000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:35633000-35653600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:35635000-35655000	Weak transcription	Fetal Intestine Small	intestine
6	chr6:35636200-35650800	Weak transcription	Lung	lung
7	chr6:35637600-35654400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:35637800-35653400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:35637800-35654400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr6:35637800-35655200	Weak transcription	Fetal Stomach	stomach
11	chr6:35638000-35654400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr6:35638200-35654400	Weak transcription	Primary B cells from cord blood	blood
13	chr6:35641400-35655000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:35641800-35653400	Weak transcription	Esophagus	oesophagus
15	chr6:35642000-35651200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr6:35642800-35651800	Weak transcription	Brain Substantia Nigra	brain
17	chr6:35643800-35651000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:35644200-35648600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:35644800-35649800	Weak transcription	Brain Hippocampus Middle	brain
20	chr6:35644800-35653000	Weak transcription	Brain Anterior Caudate	brain
21	chr6:35644800-35653800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:35644800-35655200	Weak transcription	Fetal Kidney	kidney
23	chr6:35645000-35653800	Weak transcription	HepG2	liver
24	chr6:35645200-35648600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:35645600-35648600	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr6:35645800-35650400	Weak transcription	Left Ventricle	heart
27	chr6:35645800-35650800	Weak transcription	Pancreas	Pancrea
28	chr6:35645800-35652000	Weak transcription	Psoas Muscle	Psoas
29	chr6:35645800-35654200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr6:35645800-35655200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr6:35645800-35655400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:35646000-35649000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:35646000-35652000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr6:35646200-35648600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr6:35646200-35648600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr6:35646200-35648600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr6:35646200-35654400	Weak transcription	Hela-S3	cervix
38	chr6:35646400-35648600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr6:35646400-35648600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr6:35646400-35648600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
41	chr6:35646400-35648600	Weak transcription	Adipose Nuclei	Adipose
42	chr6:35646400-35648800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr6:35646400-35654400	Weak transcription	Colon Smooth Muscle	Colon
44	chr6:35646600-35649400	Strong transcription	Fetal Thymus	thymus
45	chr6:35646600-35652200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr6:35646600-35654400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr6:35646600-35654800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:35646800-35648600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:35646800-35649000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:35646800-35649600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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