Variant report

Variant	esv3435421
Chromosome Location	chr17:45208993-45209578
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	chr17:45207192..45209453-chr17:45214341..45217324,3	K562	blood:
2	chr17:45207790..45209318-chr17:45237237..45238826,2	K562	blood:

Variant related genes	Relation type
ENSG00000239291	chromatin interactions
ENSG00000004897	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537091246	chr17:45209001-45209002	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs371553662	chr17:45209008-45209009	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs73310804	chr17:45209011-45209012	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs374379485	chr17:45209065-45209066	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs368329572	chr17:45209066-45209067	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs372444182	chr17:45209067-45209068	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs375392790	chr17:45209073-45209074	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs368968887	chr17:45209084-45209085	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs371172648	chr17:45209093-45209094	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs374993697	chr17:45209094-45209095	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs369185345	chr17:45209095-45209096	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs373303822	chr17:45209096-45209097	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs376796794	chr17:45209098-45209099	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs369759236	chr17:45209099-45209100	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs374613897	chr17:45209103-45209104	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs377692067	chr17:45209104-45209105	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs370382588	chr17:45209115-45209116	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs374726979	chr17:45209119-45209120	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs377375611	chr17:45209120-45209121	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs370592021	chr17:45209121-45209122	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs374745115	chr17:45209122-45209123	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs368488170	chr17:45209125-45209126	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs372307237	chr17:45209131-45209132	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs374542509	chr17:45209137-45209138	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs368551618	chr17:45209138-45209139	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs371365716	chr17:45209141-45209142	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs374807404	chr17:45209144-45209145	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs369065482	chr17:45209145-45209146	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs78063747	chr17:45209149-45209150	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs142213616	chr17:45209154-45209155	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs79942001	chr17:45209155-45209156	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs76989964	chr17:45209160-45209161	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs76466763	chr17:45209167-45209168	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs76419572	chr17:45209168-45209169	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs79454648	chr17:45209170-45209171	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs78639269	chr17:45209172-45209173	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs77719517	chr17:45209173-45209174	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs79810536	chr17:45209179-45209180	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs74412760	chr17:45209183-45209184	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs77104082	chr17:45209184-45209185	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs77651484	chr17:45209191-45209192	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs79468554	chr17:45209195-45209196	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs77291892	chr17:45209196-45209197	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs76957166	chr17:45209201-45209202	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs370661352	chr17:45209207-45209208	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs74759780	chr17:45209208-45209209	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs371833525	chr17:45209209-45209210	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs67963569	chr17:45209210-45209211	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs376078038	chr17:45209211-45209212	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs9911821	chr17:45209217-45209218	Weak transcription Strong transcription	Chromatin interactive region	2 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:142 , 50 per page) page: 1 2 3

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	chr17:45194000-45209800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr17:45194200-45209600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr17:45194200-45209600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr17:45194200-45209800	Strong transcription	Dnd41	blood
7	chr17:45194800-45212800	Weak transcription	Colonic Mucosa	Colon
8	chr17:45194800-45214400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr17:45194800-45234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr17:45195400-45209600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr17:45195400-45209800	Strong transcription	Fetal Thymus	thymus
12	chr17:45195600-45209400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:45195800-45212800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr17:45196000-45209600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr17:45196000-45209800	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr17:45196200-45212800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:45196400-45212800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr17:45196400-45212800	Weak transcription	Ovary	ovary
19	chr17:45196600-45213000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr17:45196600-45213000	Weak transcription	Esophagus	oesophagus
21	chr17:45197200-45209600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr17:45197400-45209800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:45197600-45209600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr17:45197800-45209400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr17:45197800-45210000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr17:45198000-45209600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr17:45198000-45212000	Strong transcription	Fetal Stomach	stomach
28	chr17:45198200-45210200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr17:45198200-45212800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr17:45198200-45212800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr17:45198200-45212800	Weak transcription	Brain Angular Gyrus	brain
32	chr17:45198400-45212800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr17:45198600-45209800	Strong transcription	A549	lung
34	chr17:45198600-45212800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr17:45198800-45209800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr17:45198800-45212800	Weak transcription	Fetal Heart	heart
37	chr17:45199000-45209200	Strong transcription	Osteobl	bone
38	chr17:45199000-45211800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr17:45199000-45212800	Weak transcription	Pancreas	Pancrea
40	chr17:45199200-45209600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr17:45199400-45212800	Weak transcription	Psoas Muscle	Psoas
42	chr17:45199600-45212800	Weak transcription	Small Intestine	intestine
43	chr17:45199800-45212800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr17:45200000-45212800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr17:45200000-45212800	Weak transcription	NHEK	skin
46	chr17:45200600-45212800	Weak transcription	Fetal Brain Male	brain
47	chr17:45201800-45212800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr17:45202000-45209000	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr17:45202000-45209600	Strong transcription	Fetal Intestine Large	intestine
50	chr17:45202200-45209400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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