Variant report

Variant	esv3392163
Chromosome Location	chr6:35799695-35799943
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35743698..35745917-chr6:35798640..35800588,2	MCF-7	breast:
2	chr6:35798317..35801989-chr6:35804923..35807992,3	MCF-7	breast:
3	chr6:35799857..35801996-chr6:35804965..35806717,2	K562	blood:

Variant related genes	Relation type
ENSG00000196748	chromatin interactions
ENSG00000096063	chromatin interactions

Extended variants
information (count: 9 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531765646	chr6:35799705-35799706	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs139364861	chr6:35799751-35799752	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs367714909	chr6:35799752-35799753	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs140971885	chr6:35799768-35799769	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs386700157	chr6:35799810-35799811	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs528010417	chr6:35799811-35799812	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs145059538	chr6:35799882-35799883	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs567931934	chr6:35799888-35799889	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs187855660	chr6:35799905-35799906	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35777000-35801400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:35787800-35855600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:35791400-35824200	Weak transcription	Fetal Brain Male	brain
4	chr6:35791600-35819800	Weak transcription	NHLF	lung
5	chr6:35793000-35801400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:35793200-35801400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:35793400-35805000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:35797000-35800200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr6:35797200-35800600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:35797200-35800600	Weak transcription	Fetal Brain Female	brain
11	chr6:35797200-35801400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr6:35797200-35801400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:35797400-35801200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr6:35797400-35801400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:35797600-35801400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:35797600-35801400	Weak transcription	Primary T cells from cord blood	blood
17	chr6:35797800-35799800	Weak transcription	NH-A	brain
18	chr6:35797800-35800600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr6:35797800-35801400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:35797800-35801400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:35798000-35800400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:35798000-35801000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:35798000-35801200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr6:35798000-35803000	Weak transcription	Brain Angular Gyrus	brain
25	chr6:35798200-35800600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr6:35798200-35801400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:35798200-35801400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr6:35798200-35801400	Weak transcription	K562	blood
29	chr6:35798200-35823800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr6:35798400-35800600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:35798400-35800800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:35798400-35801200	Weak transcription	A549	lung
33	chr6:35798600-35800400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr6:35798600-35801400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr6:35798800-35800000	Enhancers	HepG2	liver
36	chr6:35798800-35800400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:35798800-35800400	Weak transcription	GM12878-XiMat	blood
38	chr6:35798800-35800400	Weak transcription	Hela-S3	cervix
39	chr6:35798800-35800600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:35798800-35801200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr6:35798800-35801200	Weak transcription	HSMM	muscle
42	chr6:35798800-35801400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:35798800-35801400	Weak transcription	Left Ventricle	heart
44	chr6:35799000-35800600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:35799000-35800600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr6:35799000-35800600	Weak transcription	Brain Germinal Matrix	brain
47	chr6:35799000-35800600	Weak transcription	HUVEC	blood vessel
48	chr6:35799000-35801000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr6:35799000-35801000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:35799000-35801200	Weak transcription	Primary hematopoietic stem cells	blood

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