Variant report

Variant	esv3426934
Chromosome Location	chr6:35578610-35579183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35576934..35581038-chr6:35582610..35587021,4	K562	blood:
2	chr6:35569080..35571886-chr6:35578930..35581729,3	K562	blood:
3	chr6:35576641..35579638-chr6:35700327..35702039,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116257608	chr6:35578621-35578622	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560671169	chr6:35578710-35578711	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75879288	chr6:35578723-35578724	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529412736	chr6:35578786-35578787	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139407342	chr6:35578816-35578817	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs116796504	chr6:35578830-35578831	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs533720478	chr6:35578839-35578840	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs73746499	chr6:35578851-35578852	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566810113	chr6:35578920-35578921	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs73417644	chr6:35578938-35578939	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs142702386	chr6:35578946-35578947	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs567792391	chr6:35578958-35578959	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs538020421	chr6:35578962-35578963	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs3777747	chr6:35579002-35579003	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs117730957	chr6:35579003-35579004	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs558343839	chr6:35579015-35579016	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs538886834	chr6:35579016-35579017	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs187455434	chr6:35579055-35579056	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs571980578	chr6:35579066-35579067	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs77574773	chr6:35579077-35579078	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs546705858	chr6:35579166-35579167	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs370939550	chr6:35579174-35579175	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs114522928	chr6:35579177-35579178	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	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
Lung cancer	19153074	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35545000-35601800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:35558600-35580400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr6:35565400-35579800	Weak transcription	Ovary	ovary
4	chr6:35569400-35591600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:35569600-35587800	Weak transcription	Placenta	Placenta
6	chr6:35570200-35608600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:35570600-35579000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:35570600-35580000	Weak transcription	Small Intestine	intestine
9	chr6:35570600-35583400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:35570600-35587800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:35570800-35579000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:35570800-35579000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr6:35570800-35580000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:35570800-35585200	Weak transcription	Fetal Muscle Leg	muscle
15	chr6:35570800-35586000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:35570800-35586200	Weak transcription	Fetal Stomach	stomach
17	chr6:35570800-35586200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr6:35570800-35611400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr6:35571000-35580400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr6:35571000-35582200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr6:35571000-35590600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr6:35571000-35602400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr6:35571200-35578800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:35571200-35580000	Weak transcription	Adipose Nuclei	Adipose
25	chr6:35571200-35580000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:35571200-35580200	Weak transcription	Primary B cells from cord blood	blood
27	chr6:35571200-35585400	Weak transcription	Colon Smooth Muscle	Colon
28	chr6:35571200-35587200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr6:35571200-35611800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr6:35571400-35581400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:35571400-35587200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr6:35571600-35578800	Weak transcription	Brain Hippocampus Middle	brain
33	chr6:35571800-35583000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:35571800-35583400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr6:35572000-35578800	Weak transcription	Fetal Heart	heart
36	chr6:35572000-35579600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr6:35572000-35581600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr6:35572000-35584800	Weak transcription	Brain Angular Gyrus	brain
39	chr6:35572000-35585600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:35572200-35578800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:35572200-35586000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr6:35572400-35579200	Weak transcription	HepG2	liver
43	chr6:35573000-35584200	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr6:35574000-35578800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:35574000-35578800	Weak transcription	HMEC	breast
46	chr6:35574000-35578800	Weak transcription	Osteobl	bone
47	chr6:35574000-35585400	Weak transcription	HUVEC	blood vessel
48	chr6:35574000-35588800	Weak transcription	NH-A	brain
49	chr6:35574400-35587200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:35574800-35579200	Weak transcription	GM12878-XiMat	blood

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