Variant report

Variant	esv2220741
Chromosome Location	chr6:33249618-33249623
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:33248864-33249929	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:33249011-33249888	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:32939326..32941038-chr6:33246903..33249950,3	MCF-7	breast:
2	chr6:33244680..33251060-chr6:33375427..33382644,12	MCF-7	breast:
3	chr6:33165702..33182742-chr6:33234718..33250379,54	K562	blood:
4	chr6:33247934..33250111-chr6:33290391..33292325,2	MCF-7	breast:
5	chr6:32936522..32939181-chr6:33247297..33249779,3	K562	blood:
6	chr6:32935752..32938246-chr6:33246522..33249779,4	K562	blood:
7	chr6:33248031..33250805-chr6:33381162..33383303,2	MCF-7	breast:
8	chr6:33162573..33165564-chr6:33247072..33249621,2	K562	blood:

No data

Variant related genes	Relation type
WDR46	TF binding region
ENSG00000223837	chromatin interactions
ENSG00000112473	chromatin interactions
ENSG00000204231	chromatin interactions
ENSG00000202441	chromatin interactions
ENSG00000199036	chromatin interactions
ENSG00000204227	chromatin interactions
ENSG00000112511	chromatin interactions
ENSG00000204256	chromatin interactions
ENSG00000263756	chromatin interactions
ENSG00000204209	chromatin interactions
ENSG00000204257	chromatin interactions
ENSG00000204228	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 111 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539424471	chr6:33249618-33249619	Weak transcription Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
2	rs370351655	chr6:33249623-33249624	Weak transcription Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Acute lymphoblastic leukemia	21339820	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
Renal cell carcinoma	18765545	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
Immune disease	17576883	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33245600-33250400	Strong transcription	NHLF	lung
2	chr6:33245600-33251400	Weak transcription	NHDF-Ad	bronchial
3	chr6:33245600-33255200	Strong transcription	NHEK	skin
4	chr6:33245600-33255400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:33245800-33250400	Weak transcription	HUVEC	blood vessel
6	chr6:33245800-33254400	Weak transcription	Fetal Kidney	kidney
7	chr6:33245800-33255600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:33245800-33255800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:33245800-33255800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:33245800-33256000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:33245800-33256000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr6:33245800-33256400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr6:33246000-33249800	Weak transcription	NH-A	brain
14	chr6:33246000-33251800	Weak transcription	Small Intestine	intestine
15	chr6:33246000-33252600	Weak transcription	Psoas Muscle	Psoas
16	chr6:33246000-33255200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:33246000-33255600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:33246000-33255600	Strong transcription	Fetal Intestine Large	intestine
19	chr6:33246000-33255800	Strong transcription	Fetal Stomach	stomach
20	chr6:33246000-33255800	Weak transcription	Right Atrium	heart
21	chr6:33246200-33250000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:33246200-33251400	Strong transcription	Brain Cingulate Gyrus	brain
23	chr6:33246200-33252600	Strong transcription	Fetal Brain Female	brain
24	chr6:33246200-33253000	Strong transcription	Dnd41	blood
25	chr6:33246200-33255000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:33246200-33255800	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr6:33246200-33255800	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr6:33246200-33255800	Strong transcription	Brain Anterior Caudate	brain
29	chr6:33246400-33250000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr6:33246400-33250800	Strong transcription	Colonic Mucosa	Colon
31	chr6:33246400-33255400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:33246400-33255400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:33246400-33255400	Strong transcription	Lung	lung
34	chr6:33246400-33255800	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr6:33246400-33255800	Strong transcription	Osteobl	bone
36	chr6:33246600-33250400	Strong transcription	Brain Substantia Nigra	brain
37	chr6:33246600-33251200	Strong transcription	Thymus	Thymus
38	chr6:33246600-33252200	Weak transcription	Colon Smooth Muscle	Colon
39	chr6:33246600-33253400	Strong transcription	Brain Hippocampus Middle	brain
40	chr6:33246600-33255400	Strong transcription	HepG2	liver
41	chr6:33246600-33255600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:33246600-33255600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:33246600-33255600	Strong transcription	Liver	Liver
44	chr6:33246600-33255600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr6:33246600-33255600	Weak transcription	Fetal Heart	heart
46	chr6:33246600-33255800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr6:33246800-33250600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr6:33246800-33255800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:33247000-33250600	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr6:33247000-33250600	Strong transcription	Brain Angular Gyrus	brain

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