Variant report

Variant	esv3473948
Chromosome Location	chr6:33572588-33574246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33562478..33565325-chr6:33572841..33575005,2	MCF-7	breast:
2	chr6:33567572..33569907-chr6:33573549..33575919,2	MCF-7	breast:
3	chr6:33574216..33577618-chr6:33579266..33582393,4	MCF-7	breast:

Extended variants
information (count: 98 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534765986	chr6:33572610-33572611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370625695	chr6:33572613-33572614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569386563	chr6:33572658-33572659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552312743	chr6:33572680-33572681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558243163	chr6:33572681-33572682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs210214	chr6:33572694-33572695	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs145326102	chr6:33572724-33572725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569149275	chr6:33572729-33572730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370949151	chr6:33572751-33572752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553660269	chr6:33572790-33572791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72882008	chr6:33572840-33572841	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs137958008	chr6:33572856-33572857	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs35003265	chr6:33572865-33572866	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs563787480	chr6:33572909-33572910	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs78818717	chr6:33572915-33572916	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs7766147	chr6:33572923-33572924	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs564320608	chr6:33572924-33572925	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs532479237	chr6:33572948-33572949	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs547300920	chr6:33572952-33572953	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs188509560	chr6:33572956-33572957	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs373713222	chr6:33572957-33572958	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs578225613	chr6:33573033-33573034	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs547950667	chr6:33573074-33573075	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs376868060	chr6:33573092-33573093	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs536741951	chr6:33573093-33573094	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs143858808	chr6:33573149-33573150	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs570359907	chr6:33573176-33573177	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs9461892	chr6:33573202-33573203	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs210215	chr6:33573224-33573225	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs210216	chr6:33573257-33573258	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs536090420	chr6:33573312-33573313	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs565528563	chr6:33573423-33573424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532643293	chr6:33573485-33573486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192318032	chr6:33573517-33573518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545974092	chr6:33573525-33573526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532170775	chr6:33573531-33573532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34396378	chr6:33573532-33573533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200317636	chr6:33573535-33573536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185232953	chr6:33573536-33573537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35133864	chr6:33573575-33573576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12206962	chr6:33573578-33573579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78030529	chr6:33573592-33573593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs70996787	chr6:33573593-33573594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76588566	chr6:33573594-33573595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs210217	chr6:33573602-33573603	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs540207222	chr6:33573636-33573637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188008952	chr6:33573637-33573638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191369094	chr6:33573638-33573639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548025913	chr6:33573641-33573642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563326304	chr6:33573642-33573643	Weak transcription Enhancers	n/a	n/a	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
abnormal development	18461090	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
Myelofibrosis	22110671	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Encephalopathy	20692195	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33567600-33572800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:33567600-33572800	Weak transcription	A549	lung
3	chr6:33567600-33572800	Weak transcription	HSMMtube	muscle
4	chr6:33567600-33574200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:33567600-33575800	Weak transcription	Right Atrium	heart
6	chr6:33567600-33575800	Weak transcription	Right Ventricle	heart
7	chr6:33567800-33572800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:33567800-33574400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr6:33567800-33575000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr6:33567800-33575400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:33568600-33574400	Weak transcription	HMEC	breast
12	chr6:33570800-33573400	Enhancers	Duodenum Mucosa	Duodenum
13	chr6:33571000-33572800	Weak transcription	HepG2	liver
14	chr6:33571600-33572600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:33571600-33579000	Enhancers	Placenta	Placenta
16	chr6:33571800-33574400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:33571800-33574800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:33572200-33573400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr6:33572200-33573400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr6:33572200-33574400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr6:33572200-33574600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:33572200-33576800	Weak transcription	Lung	lung
23	chr6:33572400-33574600	Weak transcription	Hela-S3	cervix
24	chr6:33572600-33573200	Weak transcription	Fetal Intestine Large	intestine
25	chr6:33572600-33575000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:33572800-33573200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:33572800-33573200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:33572800-33573200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:33572800-33573200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:33572800-33573400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
31	chr6:33572800-33573400	Enhancers	A549	lung
32	chr6:33572800-33573400	Enhancers	HepG2	liver
33	chr6:33572800-33573400	Enhancers	HSMMtube	muscle
34	chr6:33572800-33573800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:33573000-33573200	Weak transcription	Colonic Mucosa	Colon
36	chr6:33573000-33573400	Enhancers	NHDF-Ad	bronchial
37	chr6:33573200-33573400	Enhancers	Colonic Mucosa	Colon
38	chr6:33573200-33573400	Enhancers	Fetal Intestine Large	intestine
39	chr6:33573200-33573400	Enhancers	HSMM	muscle
40	chr6:33573200-33574400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:33573200-33574600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:33573200-33574800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:33573200-33576600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:33573400-33574200	Weak transcription	HepG2	liver
45	chr6:33573400-33574600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr6:33573400-33574800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr6:33573400-33575000	Weak transcription	A549	lung
48	chr6:33573400-33575400	Weak transcription	NHDF-Ad	bronchial
49	chr6:33573400-33575800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr6:33573400-33575800	Weak transcription	HSMM	muscle

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