Variant report

Variant	nsv519110
Chromosome Location	chr1:91794248-91800946
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:91795401-91795471	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr1:91796654-91796720	GM13976	blood:	n/a	n/a
3	POLR2A	chr1:91795204-91795266	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr1:91795192-91795302	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:91795118-91795157	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:91794128-91794525	Gliobla	brain:	n/a	n/a
7	POLR2A	chr1:91795121-91795499	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr1:91795259-91795579	K562	blood:	n/a	n/a
9	POLR2A	chr1:91795202-91795239	HepG2	liver:	n/a	n/a
10	POLR2A	chr1:91795354-91795466	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:91795241-91795472	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:91794421-91794526	MCF-7	breast:	n/a	n/a
13	POLR2A	chr1:91795089-91795597	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr1:91795276-91795328	HUVEC	blood vessel:	n/a	n/a
15	TAL1	chr1:91795592-91795601	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:91786405..91788910-chr1:91799387..91801097,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HFM1-2	chr1:91794395-91794494	NONHSAT004431

No data

Variant related genes	Relation type
HFM1	TF binding region

Extended variants
information (count: 225 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs281973	chr1:91794248-91794249	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538002491	chr1:91794260-91794261	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556448228	chr1:91794272-91794273	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528994781	chr1:91794296-91794297	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140840440	chr1:91794407-91794408	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
6	rs559872376	chr1:91794410-91794411	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
7	rs572141432	chr1:91794442-91794443	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
8	rs17556716	chr1:91794469-91794470	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs3893101	chr1:91794494-91794495	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs531540476	chr1:91794607-91794608	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs190574072	chr1:91794648-91794649	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs113891470	chr1:91794655-91794656	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs191587432	chr1:91794661-91794662	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs183774252	chr1:91794693-91794694	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs551784742	chr1:91794712-91794713	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs115994764	chr1:91794735-91794736	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs1974253	chr1:91794744-91794745	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs549067003	chr1:91794765-91794766	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs150127682	chr1:91794783-91794784	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs538063996	chr1:91794891-91794892	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs111825754	chr1:91794892-91794893	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs556309903	chr1:91794943-91794944	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs568538044	chr1:91794948-91794949	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs538948906	chr1:91794975-91794976	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs60719104	chr1:91795065-91795066	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs72968494	chr1:91795106-91795107	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs138647447	chr1:91795191-91795192	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs149334139	chr1:91795194-91795195	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs576174691	chr1:91795200-91795201	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs376924589	chr1:91795291-91795292	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs34827273	chr1:91795292-91795293	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs4000766	chr1:91795318-91795319	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs2390922	chr1:91795322-91795323	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs2893152	chr1:91795323-91795324	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs281974	chr1:91795331-91795332	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs564912494	chr1:91795361-91795362	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs377137444	chr1:91795381-91795382	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs369119786	chr1:91795395-91795396	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs9868	chr1:91795404-91795405	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs377260188	chr1:91795406-91795407	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs138830021	chr1:91795414-91795415	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs2390923	chr1:91795419-91795420	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs141942083	chr1:91795467-91795468	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs559550901	chr1:91795471-91795472	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs3036433	chr1:91795478-91795479	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs2390924	chr1:91795517-91795518	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs2893154	chr1:91795523-91795524	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs527693706	chr1:91795533-91795534	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs548930178	chr1:91795552-91795553	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs2390925	chr1:91795570-91795571	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91773600-91796200	Weak transcription	Fetal Kidney	kidney
2	chr1:91774800-91794400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:91777800-91794600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:91782600-91804800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:91786200-91795000	Weak transcription	Psoas Muscle	Psoas
6	chr1:91788400-91810800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:91788800-91795800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:91791200-91803400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:91791400-91805400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:91792800-91796200	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:91793000-91797000	Weak transcription	Fetal Intestine Large	intestine
12	chr1:91793200-91819400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:91793400-91805600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:91793600-91795800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:91793800-91794400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:91793800-91794400	Strong transcription	Fetal Brain Female	brain
17	chr1:91793800-91794400	ZNF genes & repeats	Spleen	Spleen
18	chr1:91793800-91795400	Strong transcription	Brain Germinal Matrix	brain
19	chr1:91793800-91795600	Strong transcription	Left Ventricle	heart
20	chr1:91793800-91795600	Strong transcription	Ovary	ovary
21	chr1:91793800-91795600	Strong transcription	Pancreas	Pancrea
22	chr1:91793800-91795600	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:91793800-91795600	Strong transcription	Stomach Smooth Muscle	stomach
24	chr1:91793800-91795800	Strong transcription	Fetal Stomach	stomach
25	chr1:91793800-91796000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:91793800-91796600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:91794000-91794400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:91794000-91794600	Strong transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:91794000-91794800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:91794000-91794800	ZNF genes & repeats	Esophagus	oesophagus
31	chr1:91794000-91794800	Strong transcription	Fetal Intestine Small	intestine
32	chr1:91794000-91795000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:91794000-91795200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:91794000-91795400	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:91794000-91795600	Strong transcription	Fetal Lung	lung
36	chr1:91794000-91796400	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:91794000-91826600	Weak transcription	Fetal Heart	heart
38	chr1:91794200-91794400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:91794200-91794400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:91794200-91794400	ZNF genes & repeats	Aorta	Aorta
41	chr1:91794200-91794400	Enhancers	Right Ventricle	heart
42	chr1:91794200-91794800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
43	chr1:91794200-91795000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:91794200-91795000	Weak transcription	Adipose Nuclei	Adipose
45	chr1:91794200-91795600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr1:91794400-91795000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:91794400-91795200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:91794400-91795400	Weak transcription	Aorta	Aorta
49	chr1:91794400-91795600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr1:91794400-91795800	Weak transcription	Spleen	Spleen

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