Variant report

Variant	esv10514
Chromosome Location	chr17:66797847-66799518
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	JUND	chr17:66799478-66799660	HepG2	liver:	n/a	chr17:66799537-66799548
2	MAFF	chr17:66799489-66799689	HepG2	liver:	n/a	n/a
3	MAFK	chr17:66799451-66799700	HepG2	liver:	n/a	n/a
4	MAFK	chr17:66799431-66799709	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000267250	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549692478	chr17:66797862-66797863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374185194	chr17:66797870-66797871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571821953	chr17:66797897-66797898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4968955	chr17:66797909-66797910	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189214013	chr17:66797915-66797916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554307770	chr17:66797965-66797966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192900531	chr17:66797968-66797969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4968956	chr17:66798017-66798018	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs565296638	chr17:66798027-66798028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535847329	chr17:66798033-66798034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563179927	chr17:66798037-66798038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185306555	chr17:66798039-66798040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61347672	chr17:66798040-66798041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558847720	chr17:66798094-66798095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374976295	chr17:66798121-66798122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569665320	chr17:66798142-66798143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537179073	chr17:66798146-66798147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558882645	chr17:66798181-66798182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11657578	chr17:66798197-66798198	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs4417601	chr17:66798231-66798232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541705002	chr17:66798250-66798251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558237597	chr17:66798276-66798277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs386798692	chr17:66798291-66798292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112913177	chr17:66798292-66798293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11657619	chr17:66798293-66798294	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs11650010	chr17:66798300-66798301	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs55990301	chr17:66798327-66798328	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs377009631	chr17:66798340-66798341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575626924	chr17:66798372-66798373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149959910	chr17:66798470-66798471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs9898526	chr17:66798504-66798505	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs532182720	chr17:66798567-66798568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547242949	chr17:66798572-66798573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559243202	chr17:66798577-66798578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529607016	chr17:66798597-66798598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547766867	chr17:66798627-66798628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569682086	chr17:66798649-66798650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536739807	chr17:66798667-66798668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188527469	chr17:66798744-66798745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530956392	chr17:66798760-66798761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141112879	chr17:66798796-66798797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181336816	chr17:66798801-66798802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539943486	chr17:66798820-66798821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553670584	chr17:66798827-66798828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9898028	chr17:66798850-66798851	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs35295565	chr17:66798866-66798867	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs67189273	chr17:66798888-66798889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376130948	chr17:66798889-66798890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557073513	chr17:66798895-66798896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs71144624	chr17:66798899-66798900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	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
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
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Congenital generalized hypertrichosis terminalis	19463983	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
XY gonadal dysgenesis	20685758	CNVD
Gingival hyperplasia	19463983	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neuroblastoma	20406844	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16417655	CNVD
Breast cancer	21045282	CNVD
Epilepsy	22083797	CNVD
Sezary syndrome	18413736	CNVD
Honadal dysgenesis	21408189	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66788000-66805800	Weak transcription	Right Atrium	heart
2	chr17:66792400-66798000	Weak transcription	Fetal Muscle Leg	muscle
3	chr17:66792600-66803200	Weak transcription	HepG2	liver
4	chr17:66793800-66799400	Weak transcription	Brain Hippocampus Middle	brain
5	chr17:66796800-66798200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr17:66797000-66803200	Weak transcription	Adipose Nuclei	Adipose
7	chr17:66797800-66800400	Enhancers	Ovary	ovary
8	chr17:66798000-66798600	Enhancers	Fetal Muscle Leg	muscle
9	chr17:66798200-66803600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr17:66798600-66799400	Weak transcription	Fetal Muscle Leg	muscle
11	chr17:66799200-66799800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr17:66799200-66800000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr17:66799200-66800000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr17:66799200-66800000	Enhancers	Fetal Heart	heart
15	chr17:66799200-66800400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:66799200-66800400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr17:66799400-66799800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr17:66799400-66800000	Enhancers	Fetal Muscle Leg	muscle
19	chr17:66799400-66800400	Enhancers	Brain Hippocampus Middle	brain
20	chr17:66799400-66804000	Enhancers	Fetal Brain Male	brain

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