Variant report

Variant	nsv105272
Chromosome Location	chr17:38706336-38706336
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38481232..38483242-chr17:38705290..38708203,2	MCF-7	breast:
2	chr17:38705731..38708080-chr17:39693080..39694676,2	MCF-7	breast:
3	chr17:38695377..38701983-chr17:38704174..38712040,12	MCF-7	breast:
4	chr17:38702522..38704504-chr17:38705149..38707900,2	MCF-7	breast:
5	chr11:9482141..9483789-chr17:38705846..38708351,2	MCF-7	breast:
6	chr17:38673009..38676029-chr17:38703569..38707305,5	MCF-7	breast:
7	chr17:38676325..38680650-chr17:38704875..38709448,7	MCF-7	breast:
8	chr17:38705642..38709928-chr17:38772338..38775854,5	MCF-7	breast:
9	chr17:38703124..38707421-chr17:38736644..38740073,5	MCF-7	breast:
10	chr17:38598113..38601965-chr17:38705104..38709206,8	MCF-7	breast:
11	chr17:38466291..38480319-chr17:38700155..38712986,33	MCF-7	breast:
12	chr17:38475627..38478371-chr17:38705771..38707346,2	MCF-7	breast:
13	chr17:38597366..38608449-chr17:38702297..38713586,48	MCF-7	breast:
14	chr12:52583438..52585132-chr17:38705740..38708246,2	MCF-7	breast:
15	chr17:38689023..38690777-chr17:38705235..38707470,2	MCF-7	breast:
16	chr17:38705923..38708848-chr17:38793584..38795694,2	K562	blood:
17	chr17:38704352..38709633-chr17:38730788..38735534,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000073584	chromatin interactions
ENSG00000166478	chromatin interactions
ENSG00000266088	chromatin interactions
ENSG00000141753	chromatin interactions
ENSG00000131759	chromatin interactions

Extended variants
information (count: 0)
Associated
traits (count: 119 )

No data

Variant related diseases (count:119)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	24379144	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Urothelial carcinoma	21177765	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Disease	22962312	CNVD
Mental retardation	20152051	CNVD
Mental retardation	19951919	CNVD
Mental retardation	22817714	CNVD
Mental retardation	21956041	CNVD
Brain cancer	19584924	CNVD
Glioblastoma multiforme	22286061	CNVD
Schizophrenia	21399695	CNVD
Non-syndromic sensorineural hearing loss	19165922	CNVD
Prader-willi syndrome	20588305	CNVD
17q21.31 microdeletion syndrome	16940994	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
17q21.31 microdeletion syndrome	22283845	CNVD
Intellectual disability	22194194	CNVD
17q21.31 microdeletion syndrome	20606400	CNVD
17q21.31 microdeletion syndrome	18628315	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Human papillomavirus	17975027	CNVD
Breast cancer	19767729	CNVD
Breast cancer	20409316	CNVD
Medulloblastoma	16783165	CNVD
Bladder cancer	21909424	CNVD
Intracranial arachnoid cysts	20187927	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38698000-38708400	Enhancers	Fetal Thymus	thymus
2	chr17:38698200-38708200	Enhancers	Primary T cells fromperipheralblood	blood
3	chr17:38699400-38710200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr17:38699600-38707800	Weak transcription	Brain Angular Gyrus	brain
5	chr17:38699600-38709800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr17:38701400-38708000	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr17:38701400-38708000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr17:38701600-38709000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr17:38702000-38709200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr17:38702000-38710200	Weak transcription	Gastric	stomach
11	chr17:38702200-38710000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr17:38702400-38710000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:38703000-38708400	Enhancers	Primary B cells from peripheral blood	blood
14	chr17:38703000-38708800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr17:38703000-38709200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr17:38703000-38709600	Enhancers	Primary B cells from cord blood	blood
17	chr17:38703200-38714400	Enhancers	Lung	lung
18	chr17:38703200-38716800	Enhancers	Fetal Muscle Leg	muscle
19	chr17:38703400-38707200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr17:38703400-38707200	Enhancers	GM12878-XiMat	blood
21	chr17:38703400-38707400	Enhancers	HSMMtube	muscle
22	chr17:38703400-38708400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr17:38703400-38711000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr17:38703400-38711200	Enhancers	Fetal Stomach	stomach
25	chr17:38703400-38712000	Enhancers	Esophagus	oesophagus
26	chr17:38703400-38712400	Enhancers	Left Ventricle	heart
27	chr17:38703400-38713400	Enhancers	Fetal Muscle Trunk	muscle
28	chr17:38703600-38706400	Enhancers	Duodenum Mucosa	Duodenum
29	chr17:38703600-38706600	Enhancers	Right Ventricle	heart
30	chr17:38703600-38706800	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr17:38703600-38707800	Enhancers	NHDF-Ad	bronchial
32	chr17:38703600-38708000	Enhancers	Rectal Smooth Muscle	rectum
33	chr17:38703600-38708400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr17:38703600-38708800	Enhancers	Spleen	Spleen
35	chr17:38703600-38711800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr17:38703600-38717200	Enhancers	Placenta	Placenta
37	chr17:38703800-38709600	Enhancers	Adipose Nuclei	Adipose
38	chr17:38703800-38710200	Enhancers	Right Atrium	heart
39	chr17:38703800-38710200	Enhancers	NHLF	lung
40	chr17:38703800-38711000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr17:38703800-38711600	Enhancers	Colon Smooth Muscle	Colon
42	chr17:38704000-38706400	Flanking Active TSS	HepG2	liver
43	chr17:38704000-38706600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr17:38704000-38708200	Flanking Active TSS	A549	lung
45	chr17:38704200-38707000	Weak transcription	Brain Hippocampus Middle	brain
46	chr17:38704200-38707200	Enhancers	Primary T cells from cord blood	blood
47	chr17:38704200-38707600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr17:38704200-38707600	Weak transcription	Brain Germinal Matrix	brain
49	chr17:38704200-38707600	Weak transcription	Fetal Brain Female	brain
50	chr17:38704200-38707800	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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