Variant report

Variant	esv3393047
Chromosome Location	chr17:45914929-45915302
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45906958..45911258-chr17:45911981..45915187,7	K562	blood:
2	chr17:45914563..45916349-chr17:45975385..45977365,2	K562	blood:
3	chr17:45913355..45915258-chr17:46023188..46024745,2	MCF-7	breast:
4	chr17:45914946..45918155-chr17:45971112..45974378,4	K562	blood:
5	chr17:45913357..45915949-chr17:45973586..45976163,2	K562	blood:
6	chr17:45913484..45922782-chr17:45969196..45975741,24	MCF-7	breast:
7	chr17:45897077..45901616-chr17:45914627..45919028,8	MCF-7	breast:
8	chr17:45914114..45922201-chr17:45959661..45964608,11	MCF-7	breast:
9	chr17:45915230..45925590-chr17:45966201..45976437,35	MCF-7	breast:
10	chr17:45914566..45916883-chr17:46031350..46033702,2	MCF-7	breast:
11	chr17:45912193..45915082-chr17:46064625..46066503,2	MCF-7	breast:
12	chr17:45912810..45915446-chr17:46033919..46035588,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000266821	chromatin interactions
ENSG00000006025	chromatin interactions
ENSG00000167182	chromatin interactions
ENSG00000167183	chromatin interactions
ENSG00000264920	chromatin interactions
ENSG00000141294	chromatin interactions
ENSG00000159111	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532307622	chr17:45914942-45914943	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs552438117	chr17:45914948-45914949	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs559333952	chr17:45914979-45914980	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs528296087	chr17:45915028-45915029	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs569321372	chr17:45915033-45915034	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs372701620	chr17:45915035-45915036	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs370021563	chr17:45915082-45915083	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs11556381	chr17:45915086-45915087	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs568586219	chr17:45915089-45915090	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs1053799	chr17:45915104-45915105	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs537519599	chr17:45915121-45915122	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs200581997	chr17:45915136-45915137	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs147587069	chr17:45915139-45915140	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs372040893	chr17:45915180-45915181	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs139253669	chr17:45915213-45915214	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs142116967	chr17:45915214-45915215	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs372982459	chr17:45915229-45915230	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs376979287	chr17:45915233-45915234	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs143281920	chr17:45915256-45915257	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs17856535	chr17:45915257-45915258	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs375403419	chr17:45915267-45915268	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs147542181	chr17:45915272-45915273	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs573416695	chr17:45915277-45915278	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs148174869	chr17:45915288-45915289	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs141621864	chr17:45915290-45915291	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs150521076	chr17:45915291-45915292	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:119)

Disease	PMID	Source
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
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
small cell lung cancer	20016488	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
Acute lymphoblastic leukemia	17443227	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
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	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
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Autism	22817714	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	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	chr17:45909200-45916800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:45909400-45915800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr17:45909400-45917600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr17:45909600-45915200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr17:45909600-45915400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr17:45909600-45917000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:45909600-45917000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr17:45909600-45917200	Weak transcription	Stomach Mucosa	stomach
9	chr17:45909600-45917400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr17:45909600-45917400	Weak transcription	Fetal Kidney	kidney
11	chr17:45909600-45917600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr17:45909600-45917600	Weak transcription	Psoas Muscle	Psoas
13	chr17:45909600-45917600	Weak transcription	Right Atrium	heart
14	chr17:45909800-45915800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:45909800-45916600	Weak transcription	Fetal Heart	heart
16	chr17:45909800-45917400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr17:45909800-45917400	Weak transcription	Brain Angular Gyrus	brain
18	chr17:45909800-45917400	Weak transcription	Brain Substantia Nigra	brain
19	chr17:45909800-45917400	Weak transcription	Hela-S3	cervix
20	chr17:45910000-45915600	Weak transcription	Dnd41	blood
21	chr17:45910000-45917400	Weak transcription	Primary B cells from cord blood	blood
22	chr17:45910000-45917400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr17:45910000-45917400	Weak transcription	GM12878-XiMat	blood
24	chr17:45912400-45917600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr17:45912600-45916200	Strong transcription	Gastric	stomach
26	chr17:45912600-45916800	Genic enhancers	Placenta	Placenta
27	chr17:45912600-45917000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr17:45912600-45917000	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr17:45912600-45917600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr17:45912800-45915000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr17:45912800-45915200	Strong transcription	Colonic Mucosa	Colon
32	chr17:45912800-45915400	Strong transcription	Stomach Smooth Muscle	stomach
33	chr17:45912800-45915600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr17:45912800-45916400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr17:45912800-45916400	Strong transcription	Brain Anterior Caudate	brain
36	chr17:45912800-45916600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr17:45912800-45916600	Strong transcription	Brain Germinal Matrix	brain
38	chr17:45913000-45916600	Genic enhancers	Adipose Nuclei	Adipose
39	chr17:45913000-45916600	Strong transcription	Fetal Thymus	thymus
40	chr17:45913000-45916800	Strong transcription	Primary T cells from cord blood	blood
41	chr17:45913000-45916800	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr17:45913000-45917000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr17:45913000-45917200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr17:45913000-45917400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr17:45913000-45917400	Weak transcription	K562	blood
46	chr17:45913000-45917600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr17:45913200-45915400	Strong transcription	Fetal Stomach	stomach
48	chr17:45913200-45916000	Strong transcription	Colon Smooth Muscle	Colon
49	chr17:45913200-45916000	Strong transcription	Esophagus	oesophagus
50	chr17:45913200-45916200	Strong transcription	H1 Cell Line	embryonic stem cell

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