Variant report

Variant	esv3374177
Chromosome Location	chr2:209158283-209158718
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	FOXA1	chr2:209158569-209159318	HepG2	liver:	n/a	n/a
2	FOXA1	chr2:209158668-209159272	HepG2	liver:	n/a	n/a
3	FOXA2	chr2:209158695-209159151	HepG2	liver:	n/a	n/a
4	MXI1	chr2:209158531-209158557	GM12878	blood:	n/a	n/a
5	NRF1	chr2:209158548-209158748	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
PIKFYVE	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184131883	chr2:209158286-209158287	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs202043497	chr2:209158291-209158292	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs111340581	chr2:209158310-209158311	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs10194539	chr2:209158323-209158324	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs1900239	chr2:209158342-209158343	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs144162810	chr2:209158352-209158353	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs35035028	chr2:209158400-209158401	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs201427532	chr2:209158415-209158416	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs556093906	chr2:209158434-209158435	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs561283163	chr2:209158461-209158462	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs113477371	chr2:209158489-209158490	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs564717649	chr2:209158511-209158512	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs115214399	chr2:209158525-209158526	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs562183912	chr2:209158581-209158582	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs527876186	chr2:209158628-209158629	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs531788492	chr2:209158641-209158642	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs541179511	chr2:209158660-209158661	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs564448142	chr2:209158695-209158696	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209136000-209171800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:209136200-209161600	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr2:209139000-209163400	Weak transcription	Right Ventricle	heart
4	chr2:209139200-209159400	Weak transcription	Small Intestine	intestine
5	chr2:209139400-209180000	Strong transcription	Fetal Thymus	thymus
6	chr2:209139800-209161800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:209141200-209180000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:209141800-209169000	Weak transcription	Hela-S3	cervix
9	chr2:209145800-209158400	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr2:209147400-209225600	Weak transcription	Stomach Mucosa	stomach
11	chr2:209147800-209168200	Weak transcription	Gastric	stomach
12	chr2:209148600-209163400	Weak transcription	Lung	lung
13	chr2:209148600-209167600	Weak transcription	Esophagus	oesophagus
14	chr2:209148600-209169600	Weak transcription	Spleen	Spleen
15	chr2:209149600-209179800	Strong transcription	Dnd41	blood
16	chr2:209150000-209160800	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:209150000-209160800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:209150400-209160800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:209150800-209159400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:209151000-209159000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:209152600-209163400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:209152600-209163400	Weak transcription	Fetal Intestine Small	intestine
23	chr2:209152600-209163400	Weak transcription	NHEK	skin
24	chr2:209152800-209158400	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr2:209152800-209161800	Strong transcription	HSMM	muscle
26	chr2:209153000-209159000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:209153200-209165800	Weak transcription	Fetal Heart	heart
28	chr2:209153400-209159000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:209153800-209159000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:209153800-209161600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:209154000-209163400	Weak transcription	Left Ventricle	heart
32	chr2:209154000-209163600	Weak transcription	Colonic Mucosa	Colon
33	chr2:209154000-209168400	Weak transcription	NHLF	lung
34	chr2:209154600-209159200	Weak transcription	Fetal Stomach	stomach
35	chr2:209154600-209164200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:209155000-209163400	Weak transcription	Aorta	Aorta
37	chr2:209155000-209163400	Weak transcription	Pancreas	Pancrea
38	chr2:209155400-209159000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:209155400-209164600	Weak transcription	Psoas Muscle	Psoas
40	chr2:209155400-209168400	Weak transcription	HSMMtube	muscle
41	chr2:209155400-209169400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:209155600-209158400	Weak transcription	Fetal Intestine Large	intestine
43	chr2:209155600-209158600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr2:209155600-209158600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:209155600-209158800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr2:209155600-209159000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr2:209155600-209159000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr2:209155600-209159200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:209155600-209159200	Weak transcription	Thymus	Thymus
50	chr2:209155600-209160800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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