Variant report

Variant	esv2102373
Chromosome Location	chr17:20197768-20198207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:20197927-20197953	GM19239	blood:	n/a	n/a
2	POLR2A	chr17:20198170-20198187	GM12878	blood:	n/a	n/a
3	POLR2A	chr17:20197902-20198059	H1-hESC	embryonic stem cell:	n/a	n/a
4	WRNIP1	chr17:20198014-20198019	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:20193195..20195348-chr17:20196222..20198766,2	MCF-7	breast:

Variant related genes	Relation type
SPECC1	TF binding region
ENSG00000252971	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 150 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569336955	chr17:20197777-20197778	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs76007343	chr17:20197858-20197859	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548870707	chr17:20197900-20197901	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567185983	chr17:20197939-20197940	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs147864751	chr17:20197942-20197943	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs534557230	chr17:20197943-20197944	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs553007619	chr17:20197966-20197967	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs571264806	chr17:20197967-20197968	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs538343576	chr17:20197970-20197971	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs557051458	chr17:20197971-20197972	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs199987266	chr17:20197976-20197977	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs200627125	chr17:20197980-20197981	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs572807745	chr17:20197981-20197982	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs74658636	chr17:20197982-20197983	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs80014635	chr17:20197983-20197984	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs199924593	chr17:20197991-20197992	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs376834121	chr17:20197992-20197993	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs371233770	chr17:20197994-20197995	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs61405499	chr17:20198023-20198024	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs2034110	chr17:20198024-20198025	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs66686539	chr17:20198033-20198034	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs146621863	chr17:20198087-20198088	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs370660726	chr17:20198121-20198122	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs563023095	chr17:20198128-20198129	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs184628137	chr17:20198131-20198132	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs530280666	chr17:20198136-20198137	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs11654025	chr17:20198160-20198161	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs187641556	chr17:20198185-20198186	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs376378110	chr17:20198198-20198199	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs115819408	chr17:20198204-20198205	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:150)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20136400-20209800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:20164000-20200200	Weak transcription	Fetal Intestine Large	intestine
3	chr17:20164000-20205600	Weak transcription	Esophagus	oesophagus
4	chr17:20164200-20200200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr17:20164400-20202200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr17:20164600-20203800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr17:20164600-20204000	Weak transcription	Gastric	stomach
8	chr17:20167400-20200200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr17:20170400-20209600	Weak transcription	HMEC	breast
10	chr17:20171200-20200200	Weak transcription	Lung	lung
11	chr17:20174400-20200200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr17:20175000-20200200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr17:20180400-20200200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr17:20180400-20203400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr17:20180600-20203200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr17:20181200-20200400	Weak transcription	Adipose Nuclei	Adipose
17	chr17:20181400-20200400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:20181400-20200400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr17:20182000-20203000	Weak transcription	NH-A	brain
20	chr17:20182400-20200400	Weak transcription	Osteobl	bone
21	chr17:20184000-20200200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr17:20184800-20200400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr17:20185000-20200200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr17:20185200-20209800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr17:20185400-20203800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr17:20185600-20201600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr17:20185600-20206800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr17:20185800-20203000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr17:20186000-20203000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr17:20186000-20209400	Weak transcription	Spleen	Spleen
31	chr17:20186200-20209800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr17:20187800-20223800	Weak transcription	Pancreas	Pancrea
33	chr17:20188000-20200200	Weak transcription	Aorta	Aorta
34	chr17:20188200-20208400	Weak transcription	NHEK	skin
35	chr17:20188400-20200400	Weak transcription	HSMMtube	muscle
36	chr17:20188400-20205600	Weak transcription	Primary T cells from cord blood	blood
37	chr17:20188600-20200200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr17:20188600-20200200	Weak transcription	Brain Substantia Nigra	brain
39	chr17:20188600-20203200	Weak transcription	HSMM	muscle
40	chr17:20188600-20209800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:20188600-20209800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr17:20188800-20203000	Weak transcription	Fetal Stomach	stomach
43	chr17:20189800-20200200	Weak transcription	Brain Angular Gyrus	brain
44	chr17:20190000-20198000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr17:20190000-20208600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr17:20190200-20200200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr17:20190400-20200400	Weak transcription	Hela-S3	cervix
48	chr17:20190400-20200600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr17:20190400-20203800	Weak transcription	Colonic Mucosa	Colon
50	chr17:20190400-20204600	Weak transcription	Right Ventricle	heart

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