Variant report

Variant	nsv575438
Chromosome Location	chr17:44848438-44849425
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:44847670..44850061-chr17:44912249..44914668,3	K562	blood:
2	chr17:44846353..44850075-chr17:44870910..44874671,5	K562	blood:
3	chr17:44848239..44850963-chr17:44871575..44873481,2	K562	blood:
4	chr17:44847827..44849684-chr17:44903325..44905972,2	K562	blood:
5	chr17:44846693..44849612-chr17:44868202..44870057,2	K562	blood:
6	chr17:44837102..44839238-chr17:44845941..44848841,2	K562	blood:
7	chr17:44820992..44822869-chr17:44847358..44849527,2	K562	blood:
8	chr17:44821369..44826185-chr17:44846753..44849990,6	K562	blood:
9	chr17:44846645..44849185-chr17:44896689..44899109,2	MCF-7	breast:
10	chr17:44840766..44847017-chr17:44847800..44851001,9	MCF-7	breast:
11	chr17:44847668..44852830-chr17:44858394..44861796,5	MCF-7	breast:
12	chr11:61559555..61560161-chr17:44848660..44849342,2	Hela-S3	cervix:
13	chr17:44836082..44838287-chr17:44847835..44850037,2	MCF-7	breast:
14	chr17:44847986..44850923-chr17:44874927..44876461,2	K562	blood:
15	chr17:44848371..44851556-chr17:44854343..44857073,3	MCF-7	breast:
16	chr17:44848624..44851339-chr17:44893104..44896024,3	K562	blood:
17	chr17:44848344..44850894-chr17:44852175..44854837,4	MCF-7	breast:
18	chr17:44848117..44849092-chr4:25235386..25236084,2	Hela-S3	cervix:
19	chr17:44801247..44804412-chr17:44846741..44850099,3	K562	blood:
20	chr17:44845867..44850393-chr17:44893846..44898781,9	K562	blood:
21	chr17:44819607..44821857-chr17:44848285..44851793,3	MCF-7	breast:
22	chr17:44848353..44849074-chr6:26158086..26158790,2	Hela-S3	cervix:
23	chr17:44848117..44849210-chr5:40835373..40836312,3	Hela-S3	cervix:
24	chr17:44846909..44848699-chr17:44886329..44888882,2	K562	blood:
25	chr17:44843310..44845974-chr17:44848991..44851957,3	MCF-7	breast:
26	chr17:44808673..44811660-chr17:44847775..44850081,2	K562	blood:
27	chr17:44830114..44832534-chr17:44845890..44849410,4	K562	blood:
28	chr17:44840704..44842981-chr17:44847991..44849653,2	MCF-7	breast:
29	chr17:44848363..44849947-chr17:45003750..45005877,2	K562	blood:
30	chr17:44848118..44848659-chr5:65439946..65440535,2	Hela-S3	cervix:
31	chr17:44848565..44850557-chr17:44896605..44898581,4	K562	blood:
32	chr17:44804689..44809871-chr17:44845472..44850072,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000145592	chromatin interactions
ENSG00000168496	chromatin interactions
ENSG00000108379	chromatin interactions
ENSG00000073969	chromatin interactions
ENSG00000038210	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000153914	chromatin interactions
ENSG00000207601	chromatin interactions
ENSG00000134825	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199524	chr17:44848438-44848439	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568530463	chr17:44848454-44848455	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs546481402	chr17:44848462-44848463	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs537348318	chr17:44848464-44848465	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs557189466	chr17:44848474-44848475	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs373634057	chr17:44848509-44848510	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs199523	chr17:44848517-44848518	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs558395766	chr17:44848593-44848594	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs12947128	chr17:44848598-44848599	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs572091504	chr17:44848614-44848615	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs540735316	chr17:44848624-44848625	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs561139944	chr17:44848636-44848637	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs12947170	chr17:44848639-44848640	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs574506687	chr17:44848642-44848643	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs543781286	chr17:44848646-44848647	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs371490326	chr17:44848660-44848661	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs563573106	chr17:44848786-44848787	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs375259197	chr17:44848821-44848822	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs532580721	chr17:44848875-44848876	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs552591668	chr17:44848893-44848894	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs559456184	chr17:44848910-44848911	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs528610604	chr17:44848940-44848941	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs568207694	chr17:44849127-44849128	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs548344627	chr17:44849196-44849197	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs182446366	chr17:44849258-44849259	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs537236665	chr17:44849267-44849268	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs550906615	chr17:44849297-44849298	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs570786956	chr17:44849308-44849309	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs538279825	chr17:44849358-44849359	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs113124604	chr17:44849362-44849363	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs558538817	chr17:44849379-44849380	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs571917823	chr17:44849408-44849409	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
Neuroticism	17667963	CNVD
Prostate cancer	19156837	CNVD
Williams-beuren syndrome	18553513	CNVD
Mental retardation	17847001	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
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	17142309	CNVD
Cancer	20164920	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

Chromatin state (count:234 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:44846800-44848600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
2	chr17:44846800-44848600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr17:44846800-44848600	Enhancers	Gastric	stomach
4	chr17:44847000-44848800	Enhancers	Spleen	Spleen
5	chr17:44847000-44849600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr17:44847200-44848800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
7	chr17:44847400-44848600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
8	chr17:44847400-44848600	Bivalent Enhancer	Fetal Thymus	thymus
9	chr17:44847400-44849600	Bivalent/Poised TSS	Colonic Mucosa	Colon
10	chr17:44848000-44848600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
11	chr17:44848000-44848600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr17:44848000-44848600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr17:44848000-44848600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
14	chr17:44848000-44848600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
15	chr17:44848000-44848600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
16	chr17:44848000-44848600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr17:44848000-44848600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
18	chr17:44848000-44848600	Flanking Active TSS	Right Ventricle	heart
19	chr17:44848000-44848600	Flanking Active TSS	NH-A	brain
20	chr17:44848000-44848600	Flanking Active TSS	NHEK	skin
21	chr17:44848000-44848600	Flanking Active TSS	Osteobl	bone
22	chr17:44848000-44848800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
23	chr17:44848000-44848800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr17:44848000-44848800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr17:44848000-44848800	Flanking Active TSS	Dnd41	blood
26	chr17:44848000-44849000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr17:44848000-44849400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr17:44848000-44849400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:44848000-44850000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr17:44848200-44848600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
31	chr17:44848200-44848600	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
32	chr17:44848200-44848600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr17:44848200-44848600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr17:44848200-44848600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr17:44848200-44848600	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr17:44848200-44848600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr17:44848200-44848600	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr17:44848200-44848600	Flanking Bivalent TSS/Enh	Placenta	Placenta
39	chr17:44848200-44848600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
40	chr17:44848200-44848600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
41	chr17:44848200-44848600	Flanking Active TSS	HUVEC	blood vessel
42	chr17:44848200-44848800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
43	chr17:44848200-44848800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr17:44848200-44848800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr17:44848200-44848800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr17:44848200-44849400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr17:44848200-44849400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr17:44848200-44849400	Weak transcription	NHDF-Ad	bronchial
49	chr17:44848200-44849600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr17:44848200-44849600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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