Variant report

Variant	esv3316040
Chromosome Location	chr17:46155608-46161656
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	chr17:46161493..46163130-chr17:46201549..46203706,2	MCF-7	breast:
2	chr17:46102299..46104272-chr17:46156219..46158747,2	MCF-7	breast:
3	chr17:46157250..46158203-chr17:46174937..46175450,2	MCF-7	breast:
4	chr17:46151387..46154136-chr17:46155917..46157796,2	K562	blood:
5	chr17:46157351..46158291-chr17:46208060..46209189,5	MCF-7	breast:
6	chr17:46157288..46158218-chr17:46208391..46209224,3	K562	blood:
7	chr17:46156470..46158674-chr17:46175187..46178395,3	MCF-7	breast:
8	chr17:46161644..46163852-chr17:46183835..46185644,2	MCF-7	breast:
9	chr17:46125259..46127124-chr17:46161475..46163962,3	MCF-7	breast:
10	chr17:46124575..46126463-chr17:46156311..46157871,2	MCF-7	breast:
11	chr17:46122926..46125743-chr17:46157405..46159438,2	K562	blood:
12	chr17:46103474..46104130-chr17:46157398..46158242,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000002919	chromatin interactions
ENSG00000108468	chromatin interactions
ENSG00000082641	chromatin interactions
ENSG00000263412	chromatin interactions

Extended variants
information (count: 207 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:207 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544584065	chr17:46155670-46155671	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187486431	chr17:46155696-46155697	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565307693	chr17:46155697-46155698	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62064917	chr17:46155700-46155701	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs547833894	chr17:46155706-46155707	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191538439	chr17:46155744-46155745	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529049993	chr17:46155775-46155776	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62064918	chr17:46155786-46155787	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs569159733	chr17:46155796-46155797	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12103663	chr17:46155800-46155801	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557791282	chr17:46155806-46155807	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571188981	chr17:46155807-46155808	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146179117	chr17:46155814-46155815	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112474677	chr17:46155825-46155826	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531496536	chr17:46155836-46155837	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140197728	chr17:46155927-46155928	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556373711	chr17:46155954-46155955	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576306607	chr17:46155974-46155975	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553720704	chr17:46155977-46155978	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547449598	chr17:46155994-46155995	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565695928	chr17:46156008-46156009	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116288298	chr17:46156027-46156028	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9905460	chr17:46156072-46156073	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs565150989	chr17:46156086-46156087	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372504507	chr17:46156102-46156103	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561426512	chr17:46156118-46156119	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530253961	chr17:46156193-46156194	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549180707	chr17:46156266-46156267	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146370698	chr17:46156280-46156281	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531552562	chr17:46156287-46156288	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532576591	chr17:46156308-46156309	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139659983	chr17:46156316-46156317	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs533780055	chr17:46156327-46156328	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs35083105	chr17:46156352-46156353	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs199814499	chr17:46156354-46156355	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs150012002	chr17:46156386-46156387	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs536227903	chr17:46156437-46156438	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs145222498	chr17:46156441-46156442	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs530205286	chr17:46156457-46156458	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs536101654	chr17:46156465-46156466	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs576193266	chr17:46156467-46156468	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs538865470	chr17:46156468-46156469	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs559157000	chr17:46156472-46156473	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs572693724	chr17:46156482-46156483	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs548309933	chr17:46156483-46156484	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs117974417	chr17:46156510-46156511	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs148741395	chr17:46156541-46156542	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs574912011	chr17:46156580-46156581	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs543905066	chr17:46156621-46156622	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs537212824	chr17:46156679-46156680	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
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
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Anaplastic thyroid cancer	18753363	CNVD
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46133200-46157200	Strong transcription	Fetal Stomach	stomach
2	chr17:46139200-46162600	Weak transcription	Small Intestine	intestine
3	chr17:46139800-46162600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr17:46139800-46163600	Weak transcription	Esophagus	oesophagus
5	chr17:46140000-46162400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr17:46140200-46156400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr17:46140800-46163200	Weak transcription	Colonic Mucosa	Colon
8	chr17:46142600-46162600	Weak transcription	Fetal Heart	heart
9	chr17:46143600-46157400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr17:46143800-46163200	Weak transcription	Aorta	Aorta
11	chr17:46144200-46157000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr17:46144400-46163000	Weak transcription	Psoas Muscle	Psoas
13	chr17:46144800-46177800	Weak transcription	Right Ventricle	heart
14	chr17:46146400-46158000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr17:46147800-46177600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr17:46148600-46156600	Strong transcription	Fetal Intestine Small	intestine
17	chr17:46149000-46178000	Weak transcription	Lung	lung
18	chr17:46149200-46162600	Weak transcription	Hela-S3	cervix
19	chr17:46151800-46157000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr17:46152400-46168200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr17:46152400-46177200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr17:46152600-46176800	Weak transcription	K562	blood
23	chr17:46152600-46177000	Weak transcription	HSMMtube	muscle
24	chr17:46153400-46170800	Weak transcription	HSMM	muscle
25	chr17:46153800-46162600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr17:46153800-46162600	Weak transcription	Fetal Brain Male	brain
27	chr17:46153800-46176800	Weak transcription	NHLF	lung
28	chr17:46154000-46162200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr17:46154000-46162400	Weak transcription	Colon Smooth Muscle	Colon
30	chr17:46154000-46163000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr17:46154000-46163200	Weak transcription	Pancreas	Pancrea
32	chr17:46154200-46162400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr17:46154200-46163000	Weak transcription	Adipose Nuclei	Adipose
34	chr17:46154200-46163000	Weak transcription	Brain Substantia Nigra	brain
35	chr17:46154200-46163200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr17:46154200-46163600	Weak transcription	NHDF-Ad	bronchial
37	chr17:46154200-46176800	Weak transcription	HMEC	breast
38	chr17:46154200-46177600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr17:46154400-46158000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr17:46154400-46162200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr17:46154400-46162200	Weak transcription	Fetal Kidney	kidney
42	chr17:46154400-46162400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr17:46154400-46162600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr17:46154400-46162600	Weak transcription	Liver	Liver
45	chr17:46154400-46162600	Weak transcription	Brain Hippocampus Middle	brain
46	chr17:46154400-46162600	Weak transcription	Gastric	stomach
47	chr17:46154400-46162600	Weak transcription	Ovary	ovary
48	chr17:46154400-46162600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr17:46154400-46162600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr17:46154400-46162600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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