Variant report

Variant	nsv527042
Chromosome Location	chr17:63123532-63128261
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	chr17:62970667..62973276-chr17:63122835..63125688,2	K562	blood:
2	chr17:63128086..63129836-chr17:63224877..63226699,2	K562	blood:
3	chr17:63117748..63120899-chr17:63122110..63128969,9	MCF-7	breast:
4	chr17:63122240..63124083-chr17:63190839..63193266,2	MCF-7	breast:
5	chr17:63118923..63121518-chr17:63126607..63128778,3	K562	blood:
6	chr17:62970044..62972484-chr17:63125849..63128468,2	MCF-7	breast:
7	chr17:63094402..63096834-chr17:63124738..63127386,3	MCF-7	breast:
8	chr17:63123878..63125578-chr17:63133344..63134913,2	MCF-7	breast:
9	chr17:63051599..63054345-chr17:63124102..63127989,4	MCF-7	breast:
10	chr17:63113189..63115743-chr17:63122387..63125115,2	MCF-7	breast:
11	chr17:63123841..63126817-chr17:63129572..63131096,2	K562	blood:
12	chr17:63118227..63121662-chr17:63122983..63126434,3	K562	blood:
13	chr17:63109946..63111950-chr17:63125496..63128407,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000120063	chromatin interactions
ENSG00000214174	chromatin interactions
ENSG00000108370	chromatin interactions

Extended variants
information (count: 192 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16960381	chr17:63123532-63123533	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs73345819	chr17:63123564-63123565	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs986090	chr17:63123592-63123593	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs114255414	chr17:63123636-63123637	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs147027984	chr17:63123637-63123638	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs534109392	chr17:63123675-63123676	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs117216967	chr17:63123700-63123701	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552078753	chr17:63123715-63123716	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs7210144	chr17:63123720-63123721	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs115838199	chr17:63123739-63123740	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs114480353	chr17:63123755-63123756	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs575939693	chr17:63123782-63123783	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576527230	chr17:63123903-63123904	Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs542154186	chr17:63123921-63123922	Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs561942205	chr17:63123922-63123923	Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs527518140	chr17:63123989-63123990	Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs116490634	chr17:63124010-63124011	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs545537316	chr17:63124029-63124030	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs138404075	chr17:63124045-63124046	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs532594255	chr17:63124072-63124073	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs1561939	chr17:63124074-63124075	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs77907198	chr17:63124176-63124177	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs537826615	chr17:63124184-63124185	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs548895858	chr17:63124236-63124237	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs71379920	chr17:63124244-63124245	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs429583	chr17:63124303-63124304	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs553900043	chr17:63124354-63124355	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs373128904	chr17:63124422-63124423	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs555783086	chr17:63124439-63124440	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs570220937	chr17:63124441-63124442	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs76115394	chr17:63124447-63124448	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs562389022	chr17:63124459-63124460	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs555982360	chr17:63124478-63124479	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs181257083	chr17:63124494-63124495	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs541446283	chr17:63124513-63124514	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs531135327	chr17:63124545-63124546	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs577202292	chr17:63124546-63124547	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs538574186	chr17:63124558-63124559	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs186243614	chr17:63124567-63124568	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs201995764	chr17:63124574-63124575	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs571976113	chr17:63124589-63124590	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs143889780	chr17:63124640-63124641	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs73345822	chr17:63124669-63124670	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs189002659	chr17:63124697-63124698	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs532976819	chr17:63124698-63124699	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs150362891	chr17:63124726-63124727	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs112067352	chr17:63124739-63124740	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs562822740	chr17:63124740-63124741	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs394093	chr17:63124744-63124745	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs547067062	chr17:63124797-63124798	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
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
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16620391	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Congenital generalized hypertrichosis terminalis	19463983	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	20164920	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63118800-63127000	Weak transcription	Spleen	Spleen
2	chr17:63119800-63133600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr17:63120200-63124400	Weak transcription	Aorta	Aorta
4	chr17:63120200-63126400	Weak transcription	K562	blood
5	chr17:63123400-63124000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:63123800-63124000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
7	chr17:63124000-63132600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr17:63125000-63126000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
9	chr17:63125200-63126200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:63125400-63125600	Enhancers	Primary hematopoietic stem cells	blood
11	chr17:63125600-63126200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr17:63126200-63127000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
13	chr17:63126200-63127200	Enhancers	Primary hematopoietic stem cells	blood
14	chr17:63126200-63127600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr17:63126400-63127800	Enhancers	K562	blood
16	chr17:63126600-63127400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr17:63126800-63127400	Enhancers	GM12878-XiMat	blood
18	chr17:63126800-63127400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
19	chr17:63126800-63127600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr17:63126800-63128200	Enhancers	Fetal Intestine Large	intestine
21	chr17:63126800-63129000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:63126800-63129000	Enhancers	Fetal Intestine Small	intestine
23	chr17:63127000-63127200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
24	chr17:63127000-63127400	Enhancers	Duodenum Mucosa	Duodenum
25	chr17:63127000-63127600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:63127000-63127800	Enhancers	Spleen	Spleen
27	chr17:63127000-63128000	Enhancers	HepG2	liver
28	chr17:63127000-63128200	Enhancers	Liver	Liver
29	chr17:63127000-63129000	Enhancers	NHDF-Ad	bronchial
30	chr17:63127200-63127800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
31	chr17:63127200-63128400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr17:63127400-63127800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr17:63127400-63128400	Enhancers	NHLF	lung
34	chr17:63127400-63128600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr17:63127400-63129000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr17:63127400-63133000	Weak transcription	GM12878-XiMat	blood
37	chr17:63127600-63127800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr17:63127600-63129000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr17:63127600-63133000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr17:63127800-63128000	Enhancers	Duodenum Mucosa	Duodenum
41	chr17:63127800-63128200	Enhancers	Osteobl	bone
42	chr17:63127800-63128400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr17:63127800-63129000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr17:63128000-63128200	Flanking Active TSS	HepG2	liver
45	chr17:63128000-63128400	Enhancers	NH-A	brain
46	chr17:63128000-63132800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr17:63128200-63128400	Enhancers	A549	lung
48	chr17:63128200-63129000	Enhancers	HepG2	liver
49	chr17:63128200-63129400	Weak transcription	Liver	Liver
50	chr17:63128200-63133000	Weak transcription	Fetal Intestine Large	intestine

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