Variant report

Variant	nsv946551
Chromosome Location	chr1:192963235-192965650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:192965059-192965212	IMR90	lung:	n/a	n/a
2	CEBPB	chr1:192965042-192965196	K562	blood:	n/a	n/a
3	CHD2	chr1:192963439-192963442	K562	blood:	n/a	n/a
4	IRF1	chr1:192964718-192964893	K562	blood:	n/a	n/a
5	JUND	chr1:192964888-192964909	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:192962475-192967004	K562	blood:	n/a	n/a
7	POLR2A	chr1:192962879-192963730	K562	blood:	n/a	n/a
8	POLR2A	chr1:192963684-192963699	HepG2	liver:	n/a	n/a
9	POLR2A	chr1:192965079-192965230	ProgFib	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:192964363..192967314-chr1:192975848..192978969,3	K562	blood:
2	chr1:192775669..192779738-chr1:192965396..192967525,3	K562	blood:

No data

Variant related genes	Relation type
ZNF101P2	TF binding region
ENSG00000116741	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537873594	chr1:192963279-192963280	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs116478383	chr1:192963285-192963286	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562173511	chr1:192963296-192963297	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374178307	chr1:192963298-192963299	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192408994	chr1:192963346-192963347	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571172429	chr1:192963357-192963358	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370182847	chr1:192963382-192963383	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550248753	chr1:192963394-192963395	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183313215	chr1:192963450-192963451	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535607158	chr1:192963452-192963453	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555806604	chr1:192963483-192963484	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572419596	chr1:192963496-192963497	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116171777	chr1:192963553-192963554	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs56152172	chr1:192963560-192963561	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138101309	chr1:192963608-192963609	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115214572	chr1:192963657-192963658	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543309489	chr1:192963812-192963813	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs9427570	chr1:192963826-192963827	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs187020733	chr1:192963837-192963838	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs559413903	chr1:192963853-192963854	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs528150156	chr1:192963854-192963855	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs74130909	chr1:192963865-192963866	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs191007301	chr1:192963905-192963906	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs533713820	chr1:192963914-192963915	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs370359653	chr1:192963920-192963921	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs182536374	chr1:192963929-192963930	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs535866600	chr1:192964008-192964009	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs549075481	chr1:192964063-192964064	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs71639182	chr1:192964109-192964110	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs199513004	chr1:192964121-192964122	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs111897800	chr1:192964171-192964172	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs368597449	chr1:192964173-192964174	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs72738585	chr1:192964180-192964181	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs534749158	chr1:192964183-192964184	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs557577759	chr1:192964280-192964281	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs577399028	chr1:192964337-192964338	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs145987863	chr1:192964414-192964415	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs61823203	chr1:192964457-192964458	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs78530304	chr1:192964482-192964483	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs191241349	chr1:192964507-192964508	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs117481852	chr1:192964526-192964527	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs138713344	chr1:192964534-192964535	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs397783966	chr1:192964666-192964667	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs543088183	chr1:192964724-192964725	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs9427833	chr1:192964735-192964736	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs118162877	chr1:192964775-192964776	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs56085838	chr1:192964830-192964831	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs55986802	chr1:192964848-192964849	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs543628665	chr1:192964849-192964850	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs182307409	chr1:192964927-192964928	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192937000-192963400	Weak transcription	Aorta	Aorta
2	chr1:192938000-192972800	Weak transcription	Psoas Muscle	Psoas
3	chr1:192947000-192968800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:192948000-192966800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:192952200-192963400	Weak transcription	Thymus	Thymus
6	chr1:192953400-192963400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:192953400-192963400	Weak transcription	HMEC	breast
8	chr1:192953600-192982400	Weak transcription	HSMMtube	muscle
9	chr1:192954200-192991200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:192954800-192978800	Weak transcription	Right Ventricle	heart
11	chr1:192955000-192963400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:192955400-192963400	Weak transcription	Fetal Stomach	stomach
13	chr1:192955800-192963400	Weak transcription	Fetal Intestine Small	intestine
14	chr1:192955800-192972400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:192955800-192990600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:192956000-192963400	Weak transcription	Left Ventricle	heart
17	chr1:192956000-192965400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:192956000-192966600	Weak transcription	Dnd41	blood
19	chr1:192956000-192966800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:192956200-192972000	Weak transcription	Brain Anterior Caudate	brain
21	chr1:192956200-192988400	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:192957800-192963400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:192957800-192963400	Weak transcription	Liver	Liver
24	chr1:192958000-192963400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:192958800-192963400	Weak transcription	Ovary	ovary
26	chr1:192959400-192963400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:192959600-192963400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:192960000-192964000	Enhancers	Placenta	Placenta
29	chr1:192960400-192963400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:192960400-192963600	Weak transcription	A549	lung
31	chr1:192960400-192967400	Weak transcription	Gastric	stomach
32	chr1:192960600-192963400	Weak transcription	NHDF-Ad	bronchial
33	chr1:192961000-192963400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:192961200-192963400	Weak transcription	Fetal Brain Male	brain
35	chr1:192961200-192983600	Weak transcription	Hela-S3	cervix
36	chr1:192961400-192968200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:192961400-192976000	Weak transcription	HepG2	liver
38	chr1:192961600-192963400	Weak transcription	Lung	lung
39	chr1:192961600-192967600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:192961800-192964400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:192961800-192976200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:192962000-192963600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:192962200-192963400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr1:192962200-192963800	Strong transcription	NHEK	skin
45	chr1:192962400-192963400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:192962600-192963400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:192962600-192963800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
48	chr1:192962600-192964000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr1:192962600-192964000	ZNF genes & repeats	Primary B cells from cord blood	blood
50	chr1:192962600-192964800	Strong transcription	Skeletal Muscle Female	skeletal muscle

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