Variant report

Variant	nsv520973
Chromosome Location	chr12:122265106-122267218
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122260634..122262988-chr12:122263778..122265439,3	K562	blood:
2	chr12:122263316..122269840-chr12:122275192..122277563,9	K562	blood:
3	chr12:122263478..122265843-chr12:122459238..122462065,2	MCF-7	breast:
4	chr12:122263314..122265350-chr12:122325575..122328455,3	MCF-7	breast:
5	chr12:122259672..122261215-chr12:122262600..122265504,2	MCF-7	breast:
6	chr12:122261003..122262555-chr12:122266900..122268713,2	MCF-7	breast:
7	chr12:122263009..122268091-chr12:122324270..122328338,7	MCF-7	breast:
8	chr12:122262591..122265801-chr12:122266206..122268055,3	MCF-7	breast:
9	chr12:122262591..122265801-chr12:122266206..122268055,3	MCF-7	breast:
10	chr12:122257311..122259605-chr12:122263406..122267409,4	MCF-7	breast:
11	chr12:122255928..122260265-chr12:122261621..122265841,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256950	chromatin interactions
ENSG00000110801	chromatin interactions
ENSG00000110987	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2242259	chr12:122265106-122265107	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568224441	chr12:122265110-122265111	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs201194219	chr12:122265122-122265123	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs566963041	chr12:122265148-122265149	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs534251505	chr12:122265158-122265159	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs369288699	chr12:122265159-122265160	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs2242260	chr12:122265163-122265164	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs146043602	chr12:122265179-122265180	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs538581470	chr12:122265183-122265184	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs564220112	chr12:122265197-122265198	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs556813777	chr12:122265214-122265215	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs574986554	chr12:122265216-122265217	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs542617551	chr12:122265235-122265236	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs554236569	chr12:122265246-122265247	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs572628105	chr12:122265283-122265284	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs539920510	chr12:122265299-122265300	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs192103427	chr12:122265300-122265301	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs532164480	chr12:122265304-122265305	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs138753979	chr12:122265327-122265328	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs544145718	chr12:122265379-122265380	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs3040119	chr12:122265385-122265386	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs5801456	chr12:122265386-122265387	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs562801692	chr12:122265396-122265397	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs372787095	chr12:122265406-122265407	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs375755615	chr12:122265413-122265414	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs566724467	chr12:122265414-122265415	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs183137751	chr12:122265461-122265462	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs552687003	chr12:122265484-122265485	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs61743641	chr12:122265517-122265518	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs375572954	chr12:122265580-122265581	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs368531784	chr12:122265591-122265592	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs538444925	chr12:122265607-122265608	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs556441133	chr12:122265608-122265609	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs371195465	chr12:122265676-122265677	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs375850421	chr12:122265715-122265716	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs368253599	chr12:122265739-122265740	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs117774166	chr12:122265770-122265771	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs139131994	chr12:122265773-122265774	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs539982091	chr12:122265787-122265788	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs187789159	chr12:122265788-122265789	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs367757831	chr12:122265789-122265790	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs576481409	chr12:122265812-122265813	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs544403346	chr12:122265844-122265845	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs371286056	chr12:122265874-122265875	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs376735409	chr12:122265875-122265876	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs370042778	chr12:122265925-122265926	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs373413066	chr12:122265928-122265929	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs530023629	chr12:122265934-122265935	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs375243812	chr12:122265949-122265950	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs541736126	chr12:122266018-122266019	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122250800-122270200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:122250800-122270400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:122250800-122277200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:122251000-122270200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:122251000-122270400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:122251200-122266800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:122251200-122270600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:122251200-122277000	Weak transcription	Right Atrium	heart
9	chr12:122251400-122266600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:122251400-122270400	Strong transcription	Fetal Muscle Trunk	muscle
11	chr12:122251600-122266200	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr12:122251600-122268800	Strong transcription	Primary T cells from cord blood	blood
13	chr12:122251600-122270400	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr12:122251600-122270400	Strong transcription	NHLF	lung
15	chr12:122251600-122270400	Strong transcription	Osteobl	bone
16	chr12:122251600-122270800	Strong transcription	Fetal Muscle Leg	muscle
17	chr12:122251600-122270800	Strong transcription	Fetal Stomach	stomach
18	chr12:122251800-122266400	Strong transcription	Brain Germinal Matrix	brain
19	chr12:122251800-122270200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:122251800-122270200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:122251800-122270400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:122251800-122270400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:122251800-122270400	Strong transcription	Fetal Brain Female	brain
24	chr12:122251800-122270400	Strong transcription	Fetal Intestine Large	intestine
25	chr12:122251800-122270400	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr12:122251800-122270600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:122251800-122270800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:122252000-122266600	Weak transcription	Fetal Heart	heart
29	chr12:122252000-122267200	Strong transcription	Brain Hippocampus Middle	brain
30	chr12:122252000-122267400	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:122252000-122270200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr12:122252000-122270200	Strong transcription	Duodenum Mucosa	Duodenum
33	chr12:122252000-122270200	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:122252000-122270200	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:122252000-122270200	Strong transcription	Dnd41	blood
36	chr12:122252000-122270400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:122252000-122270400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:122252000-122270400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:122252000-122270600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:122252000-122270800	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr12:122252000-122270800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:122252000-122270800	Strong transcription	Liver	Liver
43	chr12:122252000-122271400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:122252000-122271400	Strong transcription	Fetal Intestine Small	intestine
45	chr12:122252200-122269800	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr12:122252200-122270800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:122252400-122269400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr12:122252400-122270400	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr12:122252400-122270800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:122252600-122267200	Strong transcription	Ovary	ovary

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