Variant report

Variant	esv3315283
Chromosome Location	chr17:38157576-38158443
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187932742	chr17:38157576-38157577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563996413	chr17:38157673-38157674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375100932	chr17:38157692-38157693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs202104017	chr17:38157762-38157763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563086997	chr17:38157765-38157766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112474310	chr17:38157777-38157778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148424510	chr17:38157780-38157781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199776919	chr17:38157794-38157795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200650585	chr17:38157796-38157797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201947458	chr17:38157799-38157800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs66938470	chr17:38157802-38157803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529299868	chr17:38157835-38157836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35272691	chr17:38157841-38157842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs192974515	chr17:38157844-38157845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568282954	chr17:38157890-38157891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529347123	chr17:38157891-38157892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145070076	chr17:38157913-38157914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569150499	chr17:38157914-38157915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4795414	chr17:38157920-38157921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs184259261	chr17:38157931-38157932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567141740	chr17:38157955-38157956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374860612	chr17:38157956-38157957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34407288	chr17:38157957-38157958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs150824041	chr17:38157975-38157976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4795415	chr17:38157995-38157996	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs547208603	chr17:38158003-38158004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541554764	chr17:38158017-38158018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138116407	chr17:38158024-38158025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113028131	chr17:38158039-38158040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545367724	chr17:38158040-38158041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556053489	chr17:38158111-38158112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4795416	chr17:38158133-38158134	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs4795417	chr17:38158137-38158138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs34622957	chr17:38158182-38158183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs187274040	chr17:38158183-38158184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570511423	chr17:38158192-38158193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556423201	chr17:38158199-38158200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147316366	chr17:38158210-38158211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533485190	chr17:38158217-38158218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140943042	chr17:38158235-38158236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143185872	chr17:38158239-38158240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370626817	chr17:38158261-38158262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35109476	chr17:38158267-38158268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192153672	chr17:38158268-38158269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567747013	chr17:38158279-38158280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555853375	chr17:38158280-38158281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184547660	chr17:38158325-38158326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7222093	chr17:38158328-38158329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs190828214	chr17:38158355-38158356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142534313	chr17:38158376-38158377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

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

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38152200-38160600	Weak transcription	Psoas Muscle	Psoas
2	chr17:38152200-38160800	Weak transcription	K562	blood
3	chr17:38153200-38158400	Weak transcription	Fetal Kidney	kidney
4	chr17:38153200-38166400	Weak transcription	Fetal Lung	lung
5	chr17:38153400-38158000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr17:38153400-38166200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr17:38153400-38166600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr17:38153600-38160400	Weak transcription	HSMMtube	muscle
9	chr17:38153600-38160600	Weak transcription	Stomach Mucosa	stomach
10	chr17:38153800-38160600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr17:38153800-38166200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr17:38153800-38166200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr17:38153800-38172200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr17:38154200-38161000	Weak transcription	Lung	lung
15	chr17:38154200-38166400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr17:38154400-38157600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr17:38154400-38157800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:38154400-38157800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr17:38154400-38158400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr17:38154400-38158800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr17:38154400-38160400	Weak transcription	HepG2	liver
22	chr17:38154400-38166200	Weak transcription	Dnd41	blood
23	chr17:38154400-38166400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr17:38154600-38158000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr17:38154600-38160800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr17:38154600-38166200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr17:38154600-38166400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr17:38154600-38170000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr17:38154600-38170200	Weak transcription	Esophagus	oesophagus
30	chr17:38154800-38157800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr17:38154800-38158800	Weak transcription	Fetal Intestine Small	intestine
32	chr17:38154800-38159200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr17:38154800-38173600	Weak transcription	Thymus	Thymus
34	chr17:38155000-38157600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr17:38155000-38157600	Weak transcription	Brain Anterior Caudate	brain
36	chr17:38155000-38158000	Weak transcription	Primary T cells from cord blood	blood
37	chr17:38155000-38158400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr17:38155000-38158800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr17:38155000-38158800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr17:38155000-38160600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr17:38155000-38160600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr17:38155000-38166200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr17:38155000-38166400	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr17:38155000-38170000	Weak transcription	HSMM	muscle
45	chr17:38155000-38173600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr17:38155000-38174000	Weak transcription	Fetal Brain Female	brain
47	chr17:38155200-38157800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr17:38155400-38170200	Weak transcription	Placenta	Placenta
49	chr17:38155600-38164200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr17:38155600-38166600	Weak transcription	Fetal Thymus	thymus

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