Variant report

Variant	nsv558503
Chromosome Location	chr12:38010350-38263084
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:38032931..38033431-chr6:58776879..58777388,2	MCF-7	breast:
2	chr11:48862246..48863766-chr12:38036979..38038502,2	MCF-7	breast:
3	chr12:38092578..38093097-chr2:92306640..92307159,2	MCF-7	breast:
4	chr12:38143553..38144054-chr18:18519761..18520264,2	MCF-7	breast:
5	chr12:38062177..38062716-chr12:38709963..38710509,2	MCF-7	breast:
6	chr12:38038013..38039001-chr3:156392284..156392894,2	MCF-7	breast:
7	chr12:38032912..38033432-chr6:58774035..58775015,2	MCF-7	breast:
8	chr12:38031932..38033432-chr6:58775709..58777615,2	MCF-7	breast:
9	chr12:38031911..38033432-chr6:58776341..58779018,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175548	chromatin interactions
ENSG00000163659	chromatin interactions

Extended variants
information (count: 22955 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:22955 , 50 per page) page: 1 2 3 4 5 6 7 ... 460

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75997678	chr12:38010351-38010352	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112262528	chr12:38010374-38010375	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186277161	chr12:38010385-38010386	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192973299	chr12:38010388-38010389	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543860481	chr12:38010403-38010404	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117237827	chr12:38010404-38010405	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185118041	chr12:38010407-38010408	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546228746	chr12:38010433-38010434	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566412869	chr12:38010448-38010449	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367655817	chr12:38010450-38010451	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549029135	chr12:38010451-38010452	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112862843	chr12:38010460-38010461	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570133478	chr12:38010478-38010479	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200500048	chr12:38010489-38010490	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111830663	chr12:38010503-38010504	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11830207	chr12:38010504-38010505	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs190407367	chr12:38010505-38010506	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559264030	chr12:38010506-38010507	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571005669	chr12:38010513-38010514	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539834759	chr12:38010517-38010518	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553440530	chr12:38010522-38010523	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368047635	chr12:38010527-38010528	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182103708	chr12:38010535-38010536	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542484227	chr12:38010540-38010541	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201397461	chr12:38010541-38010542	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78630350	chr12:38010542-38010543	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79828461	chr12:38010551-38010552	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78223207	chr12:38010557-38010558	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199577584	chr12:38010558-38010559	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371553530	chr12:38010568-38010569	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546523466	chr12:38010577-38010578	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575744204	chr12:38010595-38010596	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200466202	chr12:38010604-38010605	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs11830225	chr12:38010636-38010637	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs563827622	chr12:38010646-38010647	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs150606701	chr12:38010675-38010676	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs577352572	chr12:38010676-38010677	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs11832947	chr12:38010681-38010682	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs112288577	chr12:38010682-38010683	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs374935491	chr12:38010691-38010692	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs528896859	chr12:38010700-38010701	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs11832513	chr12:38010712-38010713	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs61922097	chr12:38010743-38010744	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs2623058	chr12:38010752-38010753	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs531532119	chr12:38010753-38010754	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs372137840	chr12:38010759-38010760	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs183035127	chr12:38010767-38010768	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs549875938	chr12:38010776-38010777	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs551644778	chr12:38010784-38010785	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs186958825	chr12:38010840-38010841	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20858243	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Osteosarcoma	21215367	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD

Chromatin state (count:921 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:37989800-38041200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr12:37990000-38040800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr12:37990400-38014000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:38005800-38010800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr12:38006000-38010800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:38008800-38013600	Weak transcription	Psoas Muscle	Psoas
7	chr12:38008800-38013600	Weak transcription	NH-A	brain
8	chr12:38008800-38016200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:38009400-38011600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:38009400-38011600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:38009400-38016200	Weak transcription	Small Intestine	intestine
12	chr12:38010200-38010600	ZNF genes & repeats	HUVEC	blood vessel
13	chr12:38010400-38010600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr12:38010400-38011000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:38010600-38011600	Weak transcription	HUVEC	blood vessel
16	chr12:38011200-38014800	ZNF genes & repeats	HepG2	liver
17	chr12:38011600-38011800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:38011600-38012000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
19	chr12:38011600-38012000	ZNF genes & repeats	Fetal Lung	lung
20	chr12:38011600-38012600	ZNF genes & repeats	HUVEC	blood vessel
21	chr12:38012000-38013600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:38012000-38016200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:38012200-38013600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:38012200-38031600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr12:38013200-38014000	ZNF genes & repeats	Liver	Liver
26	chr12:38013400-38014000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
27	chr12:38013400-38014000	ZNF genes & repeats	Brain Substantia Nigra	brain
28	chr12:38013600-38013800	Bivalent/Poised TSS	Primary T helper naive cells from peripheral blood	blood
29	chr12:38013600-38013800	ZNF genes & repeats	NH-A	brain
30	chr12:38013600-38014000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:38013600-38014000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:38013600-38014000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:38013600-38014000	Active TSS	Aorta	Aorta
34	chr12:38013600-38014000	ZNF genes & repeats	Colon Smooth Muscle	Colon
35	chr12:38013600-38014000	ZNF genes & repeats	Gastric	stomach
36	chr12:38013600-38014000	Active TSS	Psoas Muscle	Psoas
37	chr12:38013600-38016200	Weak transcription	Ovary	ovary
38	chr12:38013800-38016200	Weak transcription	NH-A	brain
39	chr12:38014000-38014800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:38014000-38014800	Weak transcription	Psoas Muscle	Psoas
41	chr12:38014000-38015000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:38014200-38015800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:38014400-38016000	Weak transcription	Stomach Mucosa	stomach
44	chr12:38014400-38016200	Weak transcription	Osteobl	bone
45	chr12:38014400-38017600	ZNF genes & repeats	Primary T cells from cord blood	blood
46	chr12:38014800-38015000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:38014800-38015200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
48	chr12:38014800-38015200	Active TSS	Psoas Muscle	Psoas
49	chr12:38015000-38015200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:38015000-38015200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood

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