Variant report

Variant	esv3427713
Chromosome Location	chr17:59841820-59844118
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:59820537..59822965-chr17:59841123..59845300,4	MCF-7	breast:
2	chr17:59839567..59842381-chr20:55840019..55842489,3	MCF-7	breast:
3	chr17:59841098..59843804-chr17:59847129..59848783,2	K562	blood:
4	chr17:59842148..59844198-chr2:25193933..25196485,2	MCF-7	breast:
5	chr17:59756283..59758393-chr17:59839694..59841860,2	MCF-7	breast:
6	chr17:59788933..59791037-chr17:59840775..59842423,2	MCF-7	breast:
7	chr17:59841742..59842624-chr3:64008640..64009552,2	MCF-7	breast:
8	chr17:59840941..59844426-chr8:101962904..101965410,3	MCF-7	breast:
9	chr17:59842078..59842658-chr4:143542683..143543326,2	MCF-7	breast:
10	chr17:59791825..59795650-chr17:59840318..59843979,3	MCF-7	breast:
11	chr17:59488256..59490600-chr17:59842943..59844571,2	MCF-7	breast:
12	chr17:59800343..59801227-chr17:59843602..59844157,2	MCF-7	breast:
13	chr17:59644855..59647910-chr17:59841335..59844150,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224165	chromatin interactions
ENSG00000164924	chromatin interactions
ENSG00000115137	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000226308	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540771745	chr17:59841824-59841825	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs188243799	chr17:59841849-59841850	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs150113187	chr17:59841851-59841852	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs367579791	chr17:59841861-59841862	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs138551394	chr17:59841862-59841863	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs541327734	chr17:59841884-59841885	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs550107840	chr17:59841910-59841911	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs569931472	chr17:59841967-59841968	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs371663260	chr17:59842044-59842045	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs377237950	chr17:59842077-59842078	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs549137650	chr17:59842115-59842116	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs193148076	chr17:59842119-59842120	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs535106470	chr17:59842124-59842125	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs185696234	chr17:59842162-59842163	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs545563944	chr17:59842167-59842168	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs559434877	chr17:59842169-59842170	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs537016028	chr17:59842172-59842173	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs557256719	chr17:59842181-59842182	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs370089876	chr17:59842242-59842243	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs71373901	chr17:59842390-59842391	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs373850033	chr17:59842415-59842416	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs115315190	chr17:59842445-59842446	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs542888132	chr17:59842456-59842457	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs149392504	chr17:59842473-59842474	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs71373902	chr17:59842477-59842478	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs79554366	chr17:59842497-59842498	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs79588788	chr17:59842499-59842500	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs572094941	chr17:59842516-59842517	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs562249934	chr17:59842553-59842554	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs190223890	chr17:59842592-59842593	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs563985253	chr17:59842614-59842615	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs78617813	chr17:59842615-59842616	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs146643187	chr17:59842715-59842716	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs182067523	chr17:59842731-59842732	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs374700334	chr17:59842733-59842734	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs113137014	chr17:59842735-59842736	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs9913512	chr17:59842741-59842742	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs9911657	chr17:59842742-59842743	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs8067467	chr17:59842784-59842785	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs71150697	chr17:59842785-59842786	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs12603852	chr17:59842786-59842787	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs532972528	chr17:59842857-59842858	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs543414262	chr17:59842858-59842859	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs563601788	chr17:59842875-59842876	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs560003294	chr17:59842882-59842883	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs529186360	chr17:59842891-59842892	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs111710587	chr17:59842958-59842959	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs548945156	chr17:59843180-59843181	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs139349263	chr17:59843190-59843191	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs71150698	chr17:59843222-59843223	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	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
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
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	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
Breast cancer	21364760	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21467264	CNVD
Ovarian neoplasms	16753589	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
XY sex reversal	17503084	CNVD
Sensorineural hearing loss	22052739	CNVD
intellectual deficit	22052739	CNVD
no characteristic dysmorphism	22052739	CNVD
speech delay	22052739	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17899364	CNVD
Multiple myeloma	16616336	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16620391	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59794400-59848200	Weak transcription	HUVEC	blood vessel
2	chr17:59804200-59847400	Weak transcription	K562	blood
3	chr17:59814000-59849000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr17:59815600-59844200	Weak transcription	HMEC	breast
5	chr17:59815800-59843400	Weak transcription	NHEK	skin
6	chr17:59816800-59887800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr17:59819000-59842600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr17:59819400-59843600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr17:59819400-59848200	Weak transcription	Primary B cells from cord blood	blood
10	chr17:59820000-59846600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr17:59820400-59877200	Weak transcription	NH-A	brain
12	chr17:59825800-59846000	Weak transcription	Fetal Intestine Small	intestine
13	chr17:59825800-59898400	Weak transcription	Thymus	Thymus
14	chr17:59827400-59847400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr17:59830200-59843400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr17:59832000-59846200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr17:59832200-59848400	Weak transcription	HepG2	liver
18	chr17:59834400-59843200	Weak transcription	Osteobl	bone
19	chr17:59835400-59845800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr17:59835800-59848400	Weak transcription	Hela-S3	cervix
21	chr17:59836000-59843200	Weak transcription	NHLF	lung
22	chr17:59838000-59843800	Strong transcription	Dnd41	blood
23	chr17:59839000-59842600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:59839400-59842600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr17:59839600-59847000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr17:59839800-59846000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr17:59839800-59846400	Weak transcription	Fetal Muscle Leg	muscle
28	chr17:59839800-59849000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr17:59840000-59842000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr17:59840200-59843600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr17:59840200-59847400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr17:59840200-59848200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr17:59840400-59846000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr17:59840600-59848000	Weak transcription	Fetal Lung	lung
35	chr17:59840600-59848400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr17:59840800-59842000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr17:59840800-59847200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr17:59840800-59848600	Weak transcription	Fetal Thymus	thymus
39	chr17:59841000-59843400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr17:59841000-59847400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr17:59841400-59842000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
42	chr17:59841600-59842400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
43	chr17:59841600-59842600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr17:59841600-59846000	Weak transcription	A549	lung
45	chr17:59841600-59848000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr17:59841600-59856600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:59841800-59842000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
48	chr17:59841800-59842200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr17:59841800-59842200	Weak transcription	Ovary	ovary
50	chr17:59841800-59843200	Weak transcription	GM12878-XiMat	blood

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