Variant report

Variant	esv3348129
Chromosome Location	chr17:38377742-38378680
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71374178..71375131-chr17:38377088..38378038,2	Hela-S3	cervix:
2	chr17:38373137..38377221-chr17:38377340..38382604,9	K562	blood:
3	chr17:38374106..38377261-chr17:38378307..38382923,6	K562	blood:

Variant related genes	Relation type
ENSG00000171475	chromatin interactions
ENSG00000100731	chromatin interactions

Extended variants
information (count: 49 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558807743	chr17:38377770-38377771	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs576975898	chr17:38377799-38377800	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs547084053	chr17:38377809-38377810	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs371592116	chr17:38377855-38377856	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs553074229	chr17:38377863-38377864	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs28413698	chr17:38377887-38377888	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs28582267	chr17:38377889-38377890	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs112736491	chr17:38377906-38377907	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs8078204	chr17:38377918-38377919	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs192529012	chr17:38377923-38377924	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs200926886	chr17:38377926-38377927	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs201747462	chr17:38377928-38377929	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs8072648	chr17:38377936-38377937	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs200462243	chr17:38377937-38377938	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs8073756	chr17:38377942-38377943	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs8078221	chr17:38377952-38377953	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs8073772	chr17:38377954-38377955	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs8074315	chr17:38377963-38377964	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs374858209	chr17:38377968-38377969	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs367995103	chr17:38377970-38377971	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs372591431	chr17:38377973-38377974	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs375510895	chr17:38377978-38377979	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs370139157	chr17:38377979-38377980	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs373354709	chr17:38377981-38377982	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs376588670	chr17:38377982-38377983	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs368691905	chr17:38377984-38377985	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs373195641	chr17:38377985-38377986	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs200389477	chr17:38378008-38378009	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs546219560	chr17:38378032-38378033	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs76033820	chr17:38378117-38378118	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs56313351	chr17:38378187-38378188	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs564761009	chr17:38378367-38378368	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs528680129	chr17:38378368-38378369	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs547185645	chr17:38378369-38378370	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs200204224	chr17:38378393-38378394	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs562252388	chr17:38378398-38378399	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs529844913	chr17:38378399-38378400	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs185063300	chr17:38378415-38378416	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs189030865	chr17:38378419-38378420	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs140794812	chr17:38378427-38378428	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs370055041	chr17:38378450-38378451	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs28711540	chr17:38378451-38378452	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs375023560	chr17:38378488-38378489	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs374582157	chr17:38378567-38378568	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs181704359	chr17:38378593-38378594	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs570699521	chr17:38378597-38378598	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs534535464	chr17:38378599-38378600	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs552781346	chr17:38378604-38378605	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs72836642	chr17:38378624-38378625	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:125)

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
Lung cancer	21203850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38374600-38377800	Active TSS	Brain Angular Gyrus	brain
2	chr17:38376200-38377800	Enhancers	Spleen	Spleen
3	chr17:38376600-38377800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr17:38376600-38377800	Enhancers	Primary B cells from peripheral blood	blood
5	chr17:38376600-38377800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr17:38376600-38377800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr17:38376600-38377800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr17:38376600-38377800	Enhancers	Liver	Liver
9	chr17:38376600-38378200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr17:38376600-38378800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr17:38376600-38380000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr17:38376600-38380200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr17:38376600-38380800	Weak transcription	Colon Smooth Muscle	Colon
14	chr17:38376600-38380800	Weak transcription	Fetal Lung	lung
15	chr17:38376600-38389200	Weak transcription	Esophagus	oesophagus
16	chr17:38376600-38389800	Weak transcription	Colonic Mucosa	Colon
17	chr17:38376600-38389800	Weak transcription	Ovary	ovary
18	chr17:38376600-38390400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr17:38376600-38392200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr17:38376600-38393200	Weak transcription	Fetal Heart	heart
21	chr17:38376600-38400400	Weak transcription	Psoas Muscle	Psoas
22	chr17:38376600-38412400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr17:38376600-38416800	Weak transcription	Aorta	Aorta
24	chr17:38376800-38377800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr17:38376800-38377800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr17:38376800-38377800	Enhancers	Brain Anterior Caudate	brain
27	chr17:38376800-38377800	Enhancers	Fetal Brain Female	brain
28	chr17:38376800-38377800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr17:38376800-38377800	Enhancers	HepG2	liver
30	chr17:38376800-38378000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr17:38376800-38378000	Enhancers	Pancreas	Pancrea
32	chr17:38376800-38378600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr17:38376800-38378600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr17:38376800-38379600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr17:38376800-38380200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr17:38376800-38380200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr17:38376800-38380200	Weak transcription	K562	blood
38	chr17:38376800-38380200	Weak transcription	NH-A	brain
39	chr17:38376800-38380200	Weak transcription	Osteobl	bone
40	chr17:38376800-38380400	Weak transcription	NHLF	lung
41	chr17:38376800-38380600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr17:38376800-38380800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr17:38376800-38380800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr17:38376800-38380800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr17:38376800-38380800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr17:38376800-38380800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr17:38376800-38380800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr17:38376800-38380800	Weak transcription	Right Ventricle	heart
49	chr17:38376800-38380800	Weak transcription	HSMM	muscle
50	chr17:38376800-38380800	Weak transcription	NHDF-Ad	bronchial

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