Variant report

Variant	esv3360031
Chromosome Location	chr6:34966453-34972064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:34971798..34974202-chr6:34977654..34980250,2	K562	blood:
2	chr6:34968308..34970921-chr6:35006790..35009720,2	K562	blood:

Extended variants
information (count: 206 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:206 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80034257	chr6:34966453-34966454	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555647465	chr6:34966463-34966464	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144089277	chr6:34966475-34966476	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538453743	chr6:34966497-34966498	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556516548	chr6:34966498-34966499	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs58764768	chr6:34966499-34966500	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs544826409	chr6:34966501-34966502	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553786474	chr6:34966511-34966512	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs59942509	chr6:34966519-34966520	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191801796	chr6:34966572-34966573	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561189467	chr6:34966598-34966599	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182236705	chr6:34966621-34966622	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543685365	chr6:34966637-34966638	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548600703	chr6:34966675-34966676	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558217206	chr6:34966705-34966706	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186801734	chr6:34966766-34966767	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs58970294	chr6:34966773-34966774	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560172577	chr6:34966808-34966809	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116262262	chr6:34966882-34966883	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548936293	chr6:34966911-34966912	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374388730	chr6:34966923-34966924	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538198795	chr6:34966940-34966941	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550447549	chr6:34966960-34966961	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191279043	chr6:34967059-34967060	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs539182304	chr6:34967070-34967071	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs369969873	chr6:34967123-34967124	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs182637939	chr6:34967181-34967182	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs186961596	chr6:34967198-34967199	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs536333664	chr6:34967203-34967204	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142356321	chr6:34967220-34967221	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112955591	chr6:34967228-34967229	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs60815469	chr6:34967235-34967236	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs112181163	chr6:34967236-34967237	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs193172703	chr6:34967255-34967256	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112593299	chr6:34967256-34967257	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375170529	chr6:34967265-34967266	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560234009	chr6:34967278-34967279	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527807636	chr6:34967297-34967298	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563188119	chr6:34967348-34967349	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12527060	chr6:34967349-34967350	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs560995192	chr6:34967352-34967353	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531685321	chr6:34967358-34967359	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550216679	chr6:34967434-34967435	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184976859	chr6:34967537-34967538	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538885318	chr6:34967546-34967547	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548040821	chr6:34967547-34967548	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566262762	chr6:34967569-34967570	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536390738	chr6:34967570-34967571	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554700470	chr6:34967577-34967578	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531917997	chr6:34967578-34967579	Weak transcription Active TSS Enhancers	n/a	n/a	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
Glioblastoma multiforme	21510904	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:215 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34925600-34984800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:34926800-34992200	Weak transcription	Small Intestine	intestine
3	chr6:34932400-34981800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:34939400-34978200	Weak transcription	Psoas Muscle	Psoas
5	chr6:34939400-35016000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:34944600-34967200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr6:34945200-34967200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr6:34947800-34967000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:34948600-34967200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr6:34949800-34966800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:34955000-34973600	Weak transcription	Stomach Mucosa	stomach
12	chr6:34955400-34967600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:34955400-34967600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr6:34955600-34969600	Weak transcription	Fetal Heart	heart
15	chr6:34956800-34967000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:34957200-34967000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:34959200-34979000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr6:34960200-34979200	Weak transcription	HUVEC	blood vessel
19	chr6:34960200-34988200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:34960400-34966600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:34960800-34967600	Weak transcription	K562	blood
22	chr6:34961000-34985200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:34961200-34983400	Weak transcription	Fetal Kidney	kidney
24	chr6:34961600-34982200	Weak transcription	Right Ventricle	heart
25	chr6:34962200-34982200	Weak transcription	Hela-S3	cervix
26	chr6:34962200-34984800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr6:34962800-34970400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr6:34962800-34978800	Weak transcription	Fetal Lung	lung
29	chr6:34962800-34983600	Weak transcription	Osteobl	bone
30	chr6:34962800-34985200	Weak transcription	Brain Germinal Matrix	brain
31	chr6:34963000-34966600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:34963000-34967400	Weak transcription	HMEC	breast
33	chr6:34963000-34968600	Weak transcription	Colon Smooth Muscle	Colon
34	chr6:34963000-34968800	Weak transcription	Gastric	stomach
35	chr6:34963000-34969400	Weak transcription	Esophagus	oesophagus
36	chr6:34963000-34969600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:34963000-34969800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr6:34963000-34970000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:34963000-34970000	Weak transcription	HSMMtube	muscle
40	chr6:34963000-34970400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr6:34963000-34975400	Weak transcription	Brain Angular Gyrus	brain
42	chr6:34963000-34976000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr6:34963000-34976000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr6:34963000-34978000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr6:34963000-34979400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:34963000-34982200	Weak transcription	Aorta	Aorta
47	chr6:34963000-34982200	Weak transcription	Pancreas	Pancrea
48	chr6:34963000-34982400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr6:34963000-34982400	Weak transcription	Fetal Stomach	stomach
50	chr6:34963000-34982600	Weak transcription	Stomach Smooth Muscle	stomach

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