Variant report

Variant	esv3410610
Chromosome Location	chr17:38201776-38203974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38197685..38199542-chr17:38200840..38203788,2	K562	blood:
2	chr17:38201743..38204554-chr17:38234339..38236298,2	K562	blood:
3	chr17:38203176..38207114-chr17:38208852..38212439,4	K562	blood:

Variant related genes	Relation type
ENSG00000008838	chromatin interactions

Extended variants
information (count: 79 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570912714	chr17:38201801-38201802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145471158	chr17:38201817-38201818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78289211	chr17:38201858-38201859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577623966	chr17:38201872-38201873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565839404	chr17:38201895-38201896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185426531	chr17:38201918-38201919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555029138	chr17:38201958-38201959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576498944	chr17:38201961-38201962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374239089	chr17:38201993-38201994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369831234	chr17:38202015-38202016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190237726	chr17:38202094-38202095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577326967	chr17:38202173-38202174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573383666	chr17:38202190-38202191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547928385	chr17:38202248-38202249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147687700	chr17:38202253-38202254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560119852	chr17:38202262-38202263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182803458	chr17:38202272-38202273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200438190	chr17:38202371-38202372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542099718	chr17:38202380-38202381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545636237	chr17:38202494-38202495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531263041	chr17:38202589-38202590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142239588	chr17:38202603-38202604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201191085	chr17:38202663-38202664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140747585	chr17:38202689-38202690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577075855	chr17:38202707-38202708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564505004	chr17:38202721-38202722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144607674	chr17:38202725-38202726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188549147	chr17:38202738-38202739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565866276	chr17:38202742-38202743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531240999	chr17:38202764-38202765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113246472	chr17:38202811-38202812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377102886	chr17:38202868-38202869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548128902	chr17:38202884-38202885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376706593	chr17:38202908-38202909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544871299	chr17:38202916-38202917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569844500	chr17:38202931-38202932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369861466	chr17:38202956-38202957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192933030	chr17:38202962-38202963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559118421	chr17:38202977-38202978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570840868	chr17:38202993-38202994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199580604	chr17:38202998-38202999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71152638	chr17:38203007-38203008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561171363	chr17:38203101-38203102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530092199	chr17:38203118-38203119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546808165	chr17:38203127-38203128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62065212	chr17:38203128-38203129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372850808	chr17:38203177-38203178	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs535053724	chr17:38203204-38203205	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs377241476	chr17:38203327-38203328	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs370278766	chr17:38203369-38203370	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:123)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
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
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	24379144	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
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Breast cancer	21509527	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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Sezary syndrome	18413736	CNVD
Urothelial carcinoma	21177765	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Disease	22962312	CNVD
Mental retardation	20152051	CNVD
Mental retardation	19951919	CNVD
Mental retardation	22817714	CNVD
Mental retardation	21956041	CNVD
Brain cancer	19584924	CNVD
Glioblastoma multiforme	22286061	CNVD
Schizophrenia	21399695	CNVD
Non-syndromic sensorineural hearing loss	19165922	CNVD
Prader-willi syndrome	20588305	CNVD
17q21.31 microdeletion syndrome	16940994	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
17q21.31 microdeletion syndrome	22283845	CNVD
Intellectual disability	22194194	CNVD
17q21.31 microdeletion syndrome	20606400	CNVD
17q21.31 microdeletion syndrome	18628315	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	20409316	CNVD
HIV/AIDS	18360285	CNVD
HIV/AIDS	17330138	CNVD
Systemic lupus erythematosus	19287148	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
HIV/AIDS	17008540	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38186600-38209800	Weak transcription	Small Intestine	intestine
2	chr17:38188800-38209400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:38189600-38206600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr17:38189600-38209600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr17:38189600-38209600	Weak transcription	Psoas Muscle	Psoas
6	chr17:38190600-38209600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr17:38191000-38208800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:38191800-38206000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr17:38192000-38209600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr17:38192200-38206600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr17:38192200-38209400	Weak transcription	Fetal Brain Male	brain
12	chr17:38192200-38209600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr17:38192400-38209600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr17:38192400-38209600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr17:38192400-38209600	Weak transcription	Colonic Mucosa	Colon
16	chr17:38192400-38209800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr17:38192400-38210000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr17:38192600-38201800	Weak transcription	Fetal Brain Female	brain
19	chr17:38192600-38203200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr17:38192600-38205600	Weak transcription	Spleen	Spleen
21	chr17:38192600-38206600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr17:38192600-38206600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr17:38192600-38208600	Weak transcription	NHEK	skin
24	chr17:38192600-38209400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr17:38192600-38209800	Weak transcription	Aorta	Aorta
26	chr17:38193200-38203200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr17:38193200-38203200	Weak transcription	Dnd41	blood
28	chr17:38193600-38208600	Weak transcription	K562	blood
29	chr17:38193800-38206600	Weak transcription	Esophagus	oesophagus
30	chr17:38195400-38203200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr17:38195400-38206400	Weak transcription	Ovary	ovary
32	chr17:38195400-38209600	Weak transcription	Pancreas	Pancrea
33	chr17:38195600-38204400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr17:38195600-38206400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr17:38195600-38206600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr17:38195600-38206600	Weak transcription	Brain Substantia Nigra	brain
37	chr17:38195600-38206600	Weak transcription	A549	lung
38	chr17:38195600-38206600	Weak transcription	HMEC	breast
39	chr17:38195600-38208000	Weak transcription	Fetal Kidney	kidney
40	chr17:38195600-38208600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr17:38195600-38209400	Weak transcription	Hela-S3	cervix
42	chr17:38195800-38203000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr17:38195800-38203000	Weak transcription	HepG2	liver
44	chr17:38195800-38204400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr17:38195800-38204400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr17:38195800-38205000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr17:38195800-38206400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr17:38195800-38206600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr17:38195800-38206600	Weak transcription	Brain Germinal Matrix	brain
50	chr17:38195800-38206600	Weak transcription	Brain Hippocampus Middle	brain

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