Variant report

Variant	esv3446894
Chromosome Location	chr17:45211417-45213120
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45211653..45214560-chr17:45231641..45234372,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYL4-2	chr17:45212171-45213246	ENSG00000249938

Variant related genes	Relation type
ENSG00000004897	chromatin interactions
BCCIP	miRNA target sites

Extended variants
information (count: 109 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184642725	chr17:45211423-45211424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200776434	chr17:45211430-45211431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576311134	chr17:45211437-45211438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs202065276	chr17:45211451-45211452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116001448	chr17:45211454-45211455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147282427	chr17:45211470-45211471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79983326	chr17:45211495-45211496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
8	rs546944507	chr17:45211496-45211497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71375394	chr17:45211522-45211523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558765347	chr17:45211604-45211605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189458289	chr17:45211624-45211625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199862699	chr17:45211663-45211664	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369407748	chr17:45211673-45211674	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560729996	chr17:45211674-45211675	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs35766560	chr17:45211688-45211689	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs529322277	chr17:45211713-45211714	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs202105785	chr17:45211714-45211715	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs549402643	chr17:45211723-45211724	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569582334	chr17:45211728-45211729	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs538395763	chr17:45211750-45211751	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs115761301	chr17:45211775-45211776	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
22	rs570530294	chr17:45211826-45211827	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs541310495	chr17:45211840-45211841	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs139794316	chr17:45211841-45211842	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs576184074	chr17:45211846-45211847	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs572737147	chr17:45211851-45211852	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs145709830	chr17:45211869-45211870	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs555323260	chr17:45211872-45211873	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs200040594	chr17:45211875-45211876	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs200992815	chr17:45211888-45211889	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs571964000	chr17:45211902-45211903	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs543966823	chr17:45211957-45211958	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs563961323	chr17:45211977-45211978	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs148470613	chr17:45211989-45211990	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs182009077	chr17:45211990-45211991	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs560675971	chr17:45212014-45212015	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs529269307	chr17:45212077-45212078	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs543012046	chr17:45212080-45212081	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs201461275	chr17:45212130-45212131	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs376654308	chr17:45212151-45212152	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs184479823	chr17:45212158-45212159	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs368594485	chr17:45212171-45212172	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs551978471	chr17:45212217-45212218	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs375785198	chr17:45212275-45212276	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs571849542	chr17:45212320-45212321	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs188940173	chr17:45212329-45212330	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs182073580	chr17:45212345-45212346	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs186172641	chr17:45212347-45212348	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs377327023	chr17:45212368-45212369	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs542228092	chr17:45212409-45212410	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 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
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
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	17142309	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
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45192400-45212800	Weak transcription	Gastric	stomach
2	chr17:45193200-45212800	Weak transcription	Aorta	Aorta
3	chr17:45194800-45212800	Weak transcription	Colonic Mucosa	Colon
4	chr17:45194800-45214400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:45194800-45234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:45195800-45212800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr17:45196200-45212800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:45196400-45212800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr17:45196400-45212800	Weak transcription	Ovary	ovary
10	chr17:45196600-45213000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:45196600-45213000	Weak transcription	Esophagus	oesophagus
12	chr17:45198000-45212000	Strong transcription	Fetal Stomach	stomach
13	chr17:45198200-45212800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr17:45198200-45212800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr17:45198200-45212800	Weak transcription	Brain Angular Gyrus	brain
16	chr17:45198400-45212800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr17:45198600-45212800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr17:45198800-45212800	Weak transcription	Fetal Heart	heart
19	chr17:45199000-45211800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr17:45199000-45212800	Weak transcription	Pancreas	Pancrea
21	chr17:45199400-45212800	Weak transcription	Psoas Muscle	Psoas
22	chr17:45199600-45212800	Weak transcription	Small Intestine	intestine
23	chr17:45199800-45212800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr17:45200000-45212800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr17:45200000-45212800	Weak transcription	NHEK	skin
26	chr17:45200600-45212800	Weak transcription	Fetal Brain Male	brain
27	chr17:45201800-45212800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr17:45203800-45213000	Weak transcription	Right Ventricle	heart
29	chr17:45204200-45212800	Weak transcription	NHLF	lung
30	chr17:45204600-45212800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr17:45204800-45211600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr17:45205800-45212800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr17:45205800-45212800	Weak transcription	Lung	lung
34	chr17:45206000-45212800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr17:45206400-45215200	Weak transcription	Brain Germinal Matrix	brain
36	chr17:45206600-45212400	Weak transcription	Fetal Brain Female	brain
37	chr17:45206600-45212800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr17:45206600-45212800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr17:45206600-45212800	Weak transcription	Brain Substantia Nigra	brain
40	chr17:45206800-45212800	Weak transcription	GM12878-XiMat	blood
41	chr17:45207000-45212800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr17:45207200-45212800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr17:45207200-45212800	Weak transcription	Brain Hippocampus Middle	brain
44	chr17:45207200-45212800	Weak transcription	Hela-S3	cervix
45	chr17:45207200-45212800	Weak transcription	HMEC	breast
46	chr17:45207200-45212800	Weak transcription	K562	blood
47	chr17:45207400-45212800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr17:45207400-45212800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr17:45207400-45212800	Weak transcription	Colon Smooth Muscle	Colon
50	chr17:45207400-45212800	Weak transcription	Fetal Kidney	kidney

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