Variant report

Variant	nsv945297
Chromosome Location	chr1:220426814-220434679
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:73)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:73 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:220428578-220428814	GM12878	blood:	n/a	n/a
2	CTCF	chr1:220427512-220427537	GM13976	blood:	n/a	n/a
3	CTCF	chr1:220427495-220427500	GM13976	blood:	n/a	n/a
4	CTCF	chr1:220426799-220426851	MCF-7	breast:	n/a	n/a
5	CTCF	chr1:220427197-220427257	GM20000	blood:	n/a	n/a
6	E2F4	chr1:220433932-220433933	MCF10A-Er-Src	breast:	n/a	n/a
7	EBF1	chr1:220426669-220426916	GM12878	blood:	n/a	n/a
8	EP300	chr1:220432231-220432292	K562	blood:	n/a	n/a
9	FAM48A	chr1:220434534-220434733	GM12878	blood:	n/a	n/a
10	FOXA1	chr1:220427764-220428119	HepG2	liver:	n/a	chr1:220427989-220428001
11	HEY1	chr1:220426727-220426984	K562	blood:	n/a	n/a
12	HEY1	chr1:220426724-220426999	K562	blood:	n/a	n/a
13	HEY1	chr1:220426712-220427004	HepG2	liver:	n/a	n/a
14	POLR2A	chr1:220426744-220426978	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:220426643-220426998	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr1:220426591-220427058	K562	blood:	n/a	n/a
17	POLR2A	chr1:220426740-220426919	A549	lung:	n/a	n/a
18	POLR2A	chr1:220434288-220435068	GM12878	blood:	n/a	n/a
19	POLR2A	chr1:220432873-220432971	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr1:220426756-220426957	A549	lung:	n/a	n/a
21	POLR2A	chr1:220425886-220428269	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:220426856-220426874	A549	lung:	n/a	n/a
23	POLR2A	chr1:220427241-220427783	K562	blood:	n/a	n/a
24	POLR2A	chr1:220426582-220427031	Gliobla	brain:	n/a	n/a
25	POLR2A	chr1:220426805-220426835	A549	lung:	n/a	n/a
26	POLR2A	chr1:220426731-220426978	A549	lung:	n/a	n/a
27	POLR2A	chr1:220426495-220427138	GM12892	blood:	n/a	n/a
28	POLR2A	chr1:220426736-220426915	HepG2	liver:	n/a	n/a
29	POLR2A	chr1:220427622-220427693	MCF-7	breast:	n/a	n/a
30	POLR2A	chr1:220426764-220426897	HepG2	liver:	n/a	n/a
31	POLR2A	chr1:220425773-220427310	GM12892	blood:	n/a	n/a
32	POLR2A	chr1:220426685-220426972	GM12878	blood:	n/a	n/a
33	POLR2A	chr1:220426490-220427243	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr1:220426750-220426907	HepG2	liver:	n/a	n/a
35	POLR2A	chr1:220431817-220432012	GM12878	blood:	n/a	n/a
36	POLR2A	chr1:220426714-220427051	GM12891	blood:	n/a	n/a
37	POLR2A	chr1:220426668-220427059	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr1:220426735-220426981	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr1:220426558-220426994	MCF-7	breast:	n/a	n/a
40	POLR2A	chr1:220426836-220426842	A549	lung:	n/a	n/a
41	POLR2A	chr1:220426686-220426974	GM12878	blood:	n/a	n/a
42	POLR2A	chr1:220426772-220427073	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr1:220427665-220427687	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr1:220426697-220426977	ProgFib	skin:	n/a	n/a
45	POLR2A	chr1:220426617-220426894	GM12878	blood:	n/a	n/a
46	POLR2A	chr1:220426586-220427066	MCF-7	breast:	n/a	n/a
47	POLR2A	chr1:220428105-220428233	HepG2	liver:	n/a	n/a
48	POLR2A	chr1:220433472-220434110	GM12892	blood:	n/a	n/a
49	POLR2A	chr1:220426657-220427010	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr1:220426546-220427151	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220415502..220418514-chr1:220424873..220426907,3	K562	blood:

No data

Variant related genes	Relation type
MORF4L1P1	TF binding region

Extended variants
information (count: 282 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185870826	chr1:220426820-220426821	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs539537883	chr1:220426821-220426822	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs56074233	chr1:220426826-220426827	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs190731680	chr1:220426832-220426833	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs544467726	chr1:220426834-220426835	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs555347104	chr1:220426839-220426840	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs376492420	chr1:220426844-220426845	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs540887729	chr1:220426863-220426864	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs560493985	chr1:220426871-220426872	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs548520232	chr1:220426892-220426893	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs183940261	chr1:220426917-220426918	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs187758400	chr1:220426918-220426919	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs11545516	chr1:220426935-220426936	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs61197814	chr1:220427002-220427003	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs11545519	chr1:220427013-220427014	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs11545522	chr1:220427019-220427020	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs11545515	chr1:220427025-220427026	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs190693949	chr1:220427041-220427042	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs567868250	chr1:220427092-220427093	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs369308988	chr1:220427099-220427100	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs183012520	chr1:220427107-220427108	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs147558065	chr1:220427144-220427145	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs187972470	chr1:220427150-220427151	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs3182758	chr1:220427157-220427158	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs11545518	chr1:220427170-220427171	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs11545517	chr1:220427181-220427182	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs556261823	chr1:220427205-220427206	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs569644446	chr1:220427219-220427220	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs3211125	chr1:220427241-220427242	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs3182794	chr1:220427253-220427254	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs11545521	chr1:220427268-220427269	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs535484618	chr1:220427272-220427273	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs11545520	chr1:220427289-220427290	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs191795007	chr1:220427302-220427303	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs17026929	chr1:220427311-220427312	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs555208209	chr1:220427327-220427328	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs376825564	chr1:220427366-220427367	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs575050863	chr1:220427369-220427370	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs370236003	chr1:220427398-220427399	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs531019044	chr1:220427409-220427410	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112013892	chr1:220427442-220427443	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554483589	chr1:220427450-220427451	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141237014	chr1:220427458-220427459	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1043266	chr1:220427469-220427470	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570549899	chr1:220427522-220427523	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539030690	chr1:220427525-220427526	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184385661	chr1:220427529-220427530	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370733127	chr1:220427532-220427533	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374115450	chr1:220427549-220427550	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376402481	chr1:220427550-220427551	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220393000-220441000	Weak transcription	NHDF-Ad	bronchial
2	chr1:220416000-220442600	Weak transcription	Fetal Heart	heart
3	chr1:220418200-220431400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:220420000-220427000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:220420400-220427000	ZNF genes & repeats	GM12878-XiMat	blood
6	chr1:220420600-220427400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
7	chr1:220421000-220436800	Weak transcription	Fetal Kidney	kidney
8	chr1:220422000-220427000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:220423000-220443400	Weak transcription	Psoas Muscle	Psoas
10	chr1:220423200-220428200	Weak transcription	Stomach Mucosa	stomach
11	chr1:220423400-220427400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:220423400-220443400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:220423400-220443400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:220423600-220427000	Strong transcription	Brain Hippocampus Middle	brain
15	chr1:220423600-220427200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:220423600-220427200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:220423600-220427200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:220423600-220428600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:220423600-220429000	Weak transcription	Brain Angular Gyrus	brain
20	chr1:220423600-220440400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:220423800-220427400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:220423800-220427600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:220423800-220427800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:220423800-220430000	Weak transcription	Fetal Brain Male	brain
25	chr1:220423800-220442600	Weak transcription	Hela-S3	cervix
26	chr1:220424400-220427000	Strong transcription	Fetal Lung	lung
27	chr1:220424400-220439600	Weak transcription	HMEC	breast
28	chr1:220424800-220427000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:220424800-220427000	Strong transcription	Fetal Brain Female	brain
30	chr1:220425000-220427400	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr1:220425200-220427000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:220425200-220427000	ZNF genes & repeats	Fetal Stomach	stomach
33	chr1:220425200-220427000	Strong transcription	Thymus	Thymus
34	chr1:220425200-220427200	Strong transcription	Liver	Liver
35	chr1:220425200-220427400	Strong transcription	Fetal Muscle Leg	muscle
36	chr1:220425200-220427400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:220425200-220431400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:220425200-220443400	Weak transcription	HUVEC	blood vessel
39	chr1:220425400-220427000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:220425400-220427000	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr1:220425400-220427000	Strong transcription	Lung	lung
42	chr1:220425400-220427200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
43	chr1:220425400-220427400	Strong transcription	K562	blood
44	chr1:220425400-220427400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr1:220425400-220427600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:220425600-220427000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:220425800-220427000	ZNF genes & repeats	Brain Germinal Matrix	brain
48	chr1:220425800-220427000	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:220425800-220427400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:220426000-220427000	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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