Variant report

Variant	nsv963939
Chromosome Location	chr2:179436201-179439832
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr2:179439592-179439822	HepG2	liver:	n/a	chr2:179439702-179439715
2	JUND	chr2:179439536-179439867	HepG2	liver:	n/a	n/a
3	NFYA	chr2:179436717-179436816	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:179438618-179438835	K562	blood:	n/a	n/a
5	WRNIP1	chr2:179436903-179436913	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:179434791..179437308-chr2:179438130..179440341,2	K562	blood:
2	chr2:179422561..179427533-chr2:179432302..179436598,7	K562	blood:
3	chr2:179419227..179421717-chr2:179434065..179436683,2	K562	blood:
4	chr2:179432790..179436322-chr2:179437819..179441282,4	MCF-7	breast:
5	chr2:179434791..179437308-chr2:179438130..179440341,2	K562	blood:
6	chr2:179350604..179352787-chr2:179436385..179438002,2	K562	blood:
7	chr2:179432790..179436322-chr2:179437819..179441282,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000270574	TF binding region
ENSG00000271011	TF binding region

Extended variants
information (count: 220 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:220 , 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	rs373130280	chr2:179436229-179436230	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536979672	chr2:179436235-179436236	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543318580	chr2:179436257-179436258	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199784966	chr2:179436263-179436264	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149232991	chr2:179436277-179436278	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553463282	chr2:179436303-179436304	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375466935	chr2:179436304-179436305	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573415766	chr2:179436310-179436311	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545418788	chr2:179436322-179436323	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373527654	chr2:179436332-179436333	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200723435	chr2:179436346-179436347	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201724962	chr2:179436355-179436356	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375181431	chr2:179436377-179436378	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368071644	chr2:179436391-179436392	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565309903	chr2:179436409-179436410	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371306826	chr2:179436446-179436447	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531223049	chr2:179436447-179436448	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544547448	chr2:179436449-179436450	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561651614	chr2:179436477-179436478	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13423286	chr2:179436479-179436480	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374382352	chr2:179436494-179436495	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368530092	chr2:179436528-179436529	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530190665	chr2:179436532-179436533	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372787601	chr2:179436554-179436555	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12616029	chr2:179436598-179436599	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369489704	chr2:179436635-179436636	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546829047	chr2:179436659-179436660	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76565211	chr2:179436667-179436668	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186780326	chr2:179436668-179436669	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201797603	chr2:179436669-179436670	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372007344	chr2:179436674-179436675	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374889737	chr2:179436678-179436679	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369499699	chr2:179436681-179436682	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528199512	chr2:179436688-179436689	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs55713856	chr2:179436715-179436716	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570875618	chr2:179436724-179436725	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs207462679	chr2:179436734-179436735	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs397517697	chr2:179436747-179436748	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372479952	chr2:179436781-179436782	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376988498	chr2:179436796-179436797	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537071956	chr2:179436817-179436818	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369122344	chr2:179436864-179436865	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144398602	chr2:179436865-179436866	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548189007	chr2:179436883-179436884	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567561028	chr2:179436900-179436901	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377752584	chr2:179436904-179436905	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs370902028	chr2:179436922-179436923	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375726644	chr2:179436924-179436925	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536049211	chr2:179436932-179436933	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376382707	chr2:179436945-179436946	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	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
Breast cancer	22522925	CNVD

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179388800-179441800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:179388800-179448800	Weak transcription	Small Intestine	intestine
3	chr2:179388800-179495800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:179393800-179439800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:179396000-179445400	Strong transcription	Right Ventricle	heart
6	chr2:179408000-179503000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:179409200-179439200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:179411000-179440000	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:179411000-179466000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:179411200-179440200	Weak transcription	Colonic Mucosa	Colon
11	chr2:179412000-179441000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:179413400-179437400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:179413600-179438200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:179413600-179438800	Weak transcription	Brain Anterior Caudate	brain
15	chr2:179413600-179440000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:179413800-179436800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:179414000-179439000	Weak transcription	Brain Angular Gyrus	brain
18	chr2:179414000-179443400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:179414200-179439200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:179414800-179471800	Weak transcription	Brain Substantia Nigra	brain
21	chr2:179417800-179441800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:179418200-179443200	Weak transcription	NHLF	lung
23	chr2:179418400-179439000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:179418400-179450200	Strong transcription	HSMMtube	muscle
25	chr2:179424000-179442200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:179424200-179442400	Strong transcription	Ovary	ovary
27	chr2:179424600-179443000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:179424800-179443000	ZNF genes & repeats	Primary T cells from cord blood	blood
29	chr2:179424800-179445200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:179425800-179440400	ZNF genes & repeats	Fetal Muscle Leg	muscle
31	chr2:179425800-179446800	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr2:179426200-179442200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
33	chr2:179426400-179437200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:179427800-179443800	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:179428000-179442200	Strong transcription	Liver	Liver
36	chr2:179428200-179439000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:179428400-179437200	Weak transcription	Esophagus	oesophagus
38	chr2:179428400-179438800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:179428400-179443800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:179428400-179478600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:179428600-179440000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:179428800-179436600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:179428800-179436600	Weak transcription	Fetal Thymus	thymus
44	chr2:179429200-179439400	Genic enhancers	Fetal Heart	heart
45	chr2:179429400-179448400	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:179429800-179439800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:179429800-179441800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr2:179430600-179437600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr2:179430600-179439000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:179430800-179436800	Weak transcription	Fetal Stomach	stomach

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