Variant report

Variant	esv3516981
Chromosome Location	chr6:34762679-34762995
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34662945..34666396-chr6:34758284..34762755,7	K562	blood:
2	chr6:34758609..34760887-chr6:34760994..34763673,2	MCF-7	breast:
3	chr6:34732771..34734494-chr6:34760287..34763087,2	K562	blood:
4	chr6:34760758..34763688-chr6:34766501..34768387,2	MCF-7	breast:
5	chr6:34761569..34764046-chr6:35162032..35164160,2	K562	blood:
6	chr6:34723785..34726777-chr6:34759451..34763099,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124562	chromatin interactions
ENSG00000196821	chromatin interactions
ENSG00000272288	chromatin interactions
ENSG00000065060	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561210050	chr6:34762689-34762690	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs371996725	chr6:34762718-34762719	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs550195745	chr6:34762724-34762725	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs75669947	chr6:34762729-34762730	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs571618861	chr6:34762773-34762774	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs566996335	chr6:34762799-34762800	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs181011483	chr6:34762850-34762851	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs7743419	chr6:34762855-34762856	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs183543406	chr6:34762856-34762857	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs536140771	chr6:34762885-34762886	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs536426042	chr6:34762921-34762922	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs555181112	chr6:34762922-34762923	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs549412716	chr6:34762951-34762952	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs57645599	chr6:34762977-34762978	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:104)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34761000-34763600	Weak transcription	NHLF	lung
2	chr6:34761200-34763600	Weak transcription	HSMM	muscle
3	chr6:34761200-34764000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:34761200-34764400	Weak transcription	Lung	lung
5	chr6:34761200-34764400	Weak transcription	Small Intestine	intestine
6	chr6:34761400-34763400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr6:34761400-34763400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:34761400-34763600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:34761400-34763600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:34761400-34763600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:34761400-34763600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:34761400-34763600	Weak transcription	Left Ventricle	heart
13	chr6:34761400-34763600	Weak transcription	Right Ventricle	heart
14	chr6:34761400-34763600	Weak transcription	Stomach Mucosa	stomach
15	chr6:34761400-34763600	Weak transcription	HUVEC	blood vessel
16	chr6:34761400-34763600	Weak transcription	NH-A	brain
17	chr6:34761400-34763600	Weak transcription	Osteobl	bone
18	chr6:34761400-34763800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:34761400-34763800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:34761400-34764400	Weak transcription	Gastric	stomach
21	chr6:34761400-34765600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:34761400-34767400	Weak transcription	A549	lung
23	chr6:34761400-34767600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:34761400-34770200	Weak transcription	Fetal Intestine Small	intestine
25	chr6:34761400-34771000	Weak transcription	Fetal Thymus	thymus
26	chr6:34761400-34772800	Weak transcription	Psoas Muscle	Psoas
27	chr6:34761400-34774200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:34761400-34774600	Weak transcription	HSMMtube	muscle
29	chr6:34761400-34779200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr6:34761400-34779600	Weak transcription	Right Atrium	heart
31	chr6:34761400-34784200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr6:34761400-34787200	Weak transcription	Fetal Muscle Leg	muscle
33	chr6:34761400-34789400	Weak transcription	Fetal Stomach	stomach
34	chr6:34761400-34789400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr6:34761400-34790800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr6:34761600-34763400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr6:34761600-34763400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:34761600-34763400	Weak transcription	Adipose Nuclei	Adipose
39	chr6:34761600-34763600	Weak transcription	Brain Angular Gyrus	brain
40	chr6:34761600-34763600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:34761600-34763600	Weak transcription	Fetal Heart	heart
42	chr6:34761600-34763600	Weak transcription	Fetal Intestine Large	intestine
43	chr6:34761600-34764000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr6:34761600-34764400	Enhancers	HepG2	liver
45	chr6:34761600-34764800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr6:34761600-34765800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr6:34761600-34766800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:34761600-34772400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr6:34761600-34774200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr6:34761600-34784200	Weak transcription	Primary B cells from cord blood	blood

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