Variant report

Variant	esv3410693
Chromosome Location	chr17:38108326-38110574
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38082186..38083715-chr17:38108086..38110832,2	K562	blood:
2	chr17:38107864..38109571-chr17:38137036..38138618,2	MCF-7	breast:
3	chr17:38091500..38094423-chr17:38107517..38109034,2	MCF-7	breast:
4	chr17:38102879..38104734-chr17:38106799..38109127,2	MCF-7	breast:
5	chr17:38082186..38086567-chr17:38107763..38110832,6	K562	blood:
6	chr17:37978424..37980112-chr17:38107868..38109558,2	K562	blood:
7	chr17:38090703..38093615-chr17:38109038..38110854,2	K562	blood:
8	chr13:21714363..21714970-chr17:38109384..38110112,2	NB4	blood:
9	chr17:38097357..38100615-chr17:38107229..38110087,5	K562	blood:
10	chr17:38101089..38105078-chr17:38105781..38110100,7	K562	blood:
11	chr17:38109945..38111451-chr17:38115405..38117518,2	K562	blood:
12	chr17:38107835..38110807-chr17:38134929..38137852,3	K562	blood:
13	chr17:38079284..38081708-chr17:38107683..38109275,2	MCF-7	breast:
14	chr17:38082601..38085339-chr17:38107879..38109914,2	MCF-7	breast:
15	chr17:38107027..38109287-chr17:38138129..38139921,2	K562	blood:
16	chr17:38109093..38109721-chr17:38136840..38137595,2	K562	blood:
17	chr17:38108082..38110998-chr17:38277597..38279860,2	K562	blood:
18	chr17:38107392..38113362-chr17:38135377..38138663,7	K562	blood:
19	chr17:38107709..38109342-chr17:38252827..38255550,2	K562	blood:
20	chr17:38108595..38111573-chr17:38115257..38117518,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000150459	chromatin interactions
ENSG00000188895	chromatin interactions
ENSG00000204913	chromatin interactions
ENSG00000264968	chromatin interactions
ENSG00000108344	chromatin interactions
ENSG00000172057	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9895948	chr17:38108363-38108364	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550479602	chr17:38108377-38108378	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs115130547	chr17:38108431-38108432	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs533004707	chr17:38108436-38108437	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs574720246	chr17:38108470-38108471	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs7223318	chr17:38108553-38108554	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs566636276	chr17:38108576-38108577	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs139689952	chr17:38108617-38108618	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs72832971	chr17:38108619-38108620	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs35194131	chr17:38108661-38108662	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs7209742	chr17:38108708-38108709	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs538566110	chr17:38108741-38108742	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs556594226	chr17:38108767-38108768	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs578101288	chr17:38108833-38108834	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs545549589	chr17:38108840-38108841	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs545621490	chr17:38109005-38109006	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs557845053	chr17:38109006-38109007	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs372152864	chr17:38109069-38109070	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs142598968	chr17:38109073-38109074	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs28618095	chr17:38109075-38109076	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs561693156	chr17:38109084-38109085	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs529157566	chr17:38109094-38109095	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs56301252	chr17:38109155-38109156	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs55927420	chr17:38109251-38109252	Active TSS Enhancers Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	mRNA abundance
25	rs56410675	chr17:38109254-38109255	Active TSS Enhancers Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs551205487	chr17:38109256-38109257	Active TSS Enhancers Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs55860944	chr17:38109302-38109303	Active TSS Enhancers Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs199899325	chr17:38109399-38109400	Active TSS Enhancers Weak transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs566622746	chr17:38109448-38109449	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs527809654	chr17:38109449-38109450	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs373214779	chr17:38109504-38109505	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs76137456	chr17:38109590-38109591	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	mRNA abundance
33	rs567618276	chr17:38109625-38109626	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs537873293	chr17:38109661-38109662	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs550402481	chr17:38109716-38109717	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs73985235	chr17:38109730-38109731	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs539225642	chr17:38109754-38109755	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs149996338	chr17:38109781-38109782	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs146548985	chr17:38109808-38109809	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs533907341	chr17:38109833-38109834	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs370187157	chr17:38109851-38109852	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs555184473	chr17:38109875-38109876	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs573536399	chr17:38109916-38109917	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs543876553	chr17:38109942-38109943	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs562795229	chr17:38109946-38109947	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs369131657	chr17:38109960-38109961	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs112170352	chr17:38110002-38110003	Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs577565048	chr17:38110003-38110004	Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs532762703	chr17:38110018-38110019	Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs184010112	chr17:38110027-38110028	Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	6 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:579 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38096400-38108400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr17:38100800-38108400	Weak transcription	Esophagus	oesophagus
3	chr17:38103200-38108400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr17:38103600-38108600	Weak transcription	HMEC	breast
5	chr17:38104400-38108400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr17:38105200-38108400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr17:38105200-38108400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr17:38105200-38108400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr17:38105200-38108600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr17:38105400-38108400	Weak transcription	Primary T cells from cord blood	blood
11	chr17:38105400-38108400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr17:38105400-38108400	Weak transcription	Fetal Lung	lung
13	chr17:38105400-38108600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr17:38105400-38108600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr17:38105400-38108600	Weak transcription	Thymus	Thymus
16	chr17:38105400-38108600	Weak transcription	A549	lung
17	chr17:38105600-38108400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr17:38105600-38108400	Weak transcription	Fetal Intestine Large	intestine
19	chr17:38105600-38108400	Weak transcription	Fetal Intestine Small	intestine
20	chr17:38105800-38108600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr17:38106200-38108600	Enhancers	Liver	Liver
22	chr17:38106400-38108600	Enhancers	Fetal Muscle Leg	muscle
23	chr17:38106600-38108600	Enhancers	Fetal Muscle Trunk	muscle
24	chr17:38107000-38108400	Weak transcription	Left Ventricle	heart
25	chr17:38107000-38108400	Weak transcription	Right Atrium	heart
26	chr17:38107000-38108400	Weak transcription	Right Ventricle	heart
27	chr17:38107000-38108400	Weak transcription	Spleen	Spleen
28	chr17:38107000-38108600	Enhancers	Primary B cells from cord blood	blood
29	chr17:38107200-38108400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr17:38107200-38108400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:38107400-38108400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr17:38107400-38108400	Weak transcription	Adipose Nuclei	Adipose
33	chr17:38107400-38108400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr17:38107400-38108600	Enhancers	Placenta	Placenta
35	chr17:38107600-38108600	Weak transcription	HSMM	muscle
36	chr17:38108000-38108400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr17:38108000-38108600	Enhancers	Brain Hippocampus Middle	brain
38	chr17:38108000-38108600	Enhancers	Fetal Thymus	thymus
39	chr17:38108000-38108600	Enhancers	Lung	lung
40	chr17:38108200-38108400	Enhancers	Primary B cells from peripheral blood	blood
41	chr17:38108200-38108400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr17:38108200-38108400	Enhancers	Colonic Mucosa	Colon
43	chr17:38108200-38108400	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr17:38108200-38108400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr17:38108200-38108400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr17:38108200-38108400	Active TSS	Stomach Smooth Muscle	stomach
47	chr17:38108200-38108600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
48	chr17:38108200-38108600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr17:38108200-38108600	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr17:38108200-38108600	Enhancers	Primary T cells fromperipheralblood	blood

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