Variant report

Variant	nsv558524
Chromosome Location	chr12:38011409-38258137
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	chr12:38143553..38144054-chr18:18519761..18520264,2	MCF-7	breast:
2	chr12:38062177..38062716-chr12:38709963..38710509,2	MCF-7	breast:
3	chr12:38031911..38033432-chr6:58776341..58779018,2	MCF-7	breast:
4	chr12:38032931..38033431-chr6:58776879..58777388,2	MCF-7	breast:
5	chr11:48862246..48863766-chr12:38036979..38038502,2	MCF-7	breast:
6	chr12:38092578..38093097-chr2:92306640..92307159,2	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	chr12:38038013..38039001-chr3:156392284..156392894,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175548	chromatin interactions
ENSG00000163659	chromatin interactions

Extended variants
information (count: 22754 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:22754 , 50 per page) page: 1 2 3 4 5 6 7 ... 456

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11830839	chr12:38011409-38011410	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566895206	chr12:38011422-38011423	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12301258	chr12:38011434-38011435	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549138990	chr12:38011462-38011463	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569193588	chr12:38011490-38011491	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200243363	chr12:38011492-38011493	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs8187609	chr12:38011493-38011494	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs79455431	chr12:38011503-38011504	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111710574	chr12:38011512-38011513	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79728608	chr12:38011526-38011527	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199634356	chr12:38011528-38011529	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565911807	chr12:38011532-38011533	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539268396	chr12:38011543-38011544	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73328903	chr12:38011544-38011545	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112728205	chr12:38011545-38011546	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78321943	chr12:38011552-38011553	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs8187608	chr12:38011574-38011575	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188049499	chr12:38011575-38011576	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553821190	chr12:38011583-38011584	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189508180	chr12:38011586-38011587	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113659803	chr12:38011607-38011608	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542584756	chr12:38011611-38011612	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555918798	chr12:38011612-38011613	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539299011	chr12:38011617-38011618	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370289763	chr12:38011623-38011624	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200516590	chr12:38011635-38011636	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201680464	chr12:38011639-38011640	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140982677	chr12:38011646-38011647	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73328905	chr12:38011649-38011650	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs527476906	chr12:38011655-38011656	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111486095	chr12:38011664-38011665	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559074987	chr12:38011675-38011676	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75964812	chr12:38011680-38011681	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201900712	chr12:38011687-38011688	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377416555	chr12:38011696-38011697	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560614620	chr12:38011697-38011698	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529829518	chr12:38011706-38011707	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529404144	chr12:38011726-38011727	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549472739	chr12:38011752-38011753	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61922104	chr12:38011790-38011791	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112969371	chr12:38011797-38011798	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192506735	chr12:38011798-38011799	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180739448	chr12:38011842-38011843	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184633994	chr12:38011849-38011850	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531599998	chr12:38011859-38011860	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12302755	chr12:38011865-38011866	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374857223	chr12:38011866-38011867	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534400087	chr12:38011867-38011868	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554097813	chr12:38011874-38011875	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200968253	chr12:38011896-38011897	ZNF genes & repeats Weak transcription	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:910 , 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	chr12:38008800-38013600	Weak transcription	Psoas Muscle	Psoas
5	chr12:38008800-38013600	Weak transcription	NH-A	brain
6	chr12:38008800-38016200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:38009400-38011600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:38009400-38011600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:38009400-38016200	Weak transcription	Small Intestine	intestine
10	chr12:38010600-38011600	Weak transcription	HUVEC	blood vessel
11	chr12:38011200-38014800	ZNF genes & repeats	HepG2	liver
12	chr12:38011600-38011800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:38011600-38012000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
14	chr12:38011600-38012000	ZNF genes & repeats	Fetal Lung	lung
15	chr12:38011600-38012600	ZNF genes & repeats	HUVEC	blood vessel
16	chr12:38012000-38013600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:38012000-38016200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr12:38012200-38013600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:38012200-38031600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr12:38013200-38014000	ZNF genes & repeats	Liver	Liver
21	chr12:38013400-38014000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
22	chr12:38013400-38014000	ZNF genes & repeats	Brain Substantia Nigra	brain
23	chr12:38013600-38013800	Bivalent/Poised TSS	Primary T helper naive cells from peripheral blood	blood
24	chr12:38013600-38013800	ZNF genes & repeats	NH-A	brain
25	chr12:38013600-38014000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:38013600-38014000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:38013600-38014000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:38013600-38014000	Active TSS	Aorta	Aorta
29	chr12:38013600-38014000	ZNF genes & repeats	Colon Smooth Muscle	Colon
30	chr12:38013600-38014000	ZNF genes & repeats	Gastric	stomach
31	chr12:38013600-38014000	Active TSS	Psoas Muscle	Psoas
32	chr12:38013600-38016200	Weak transcription	Ovary	ovary
33	chr12:38013800-38016200	Weak transcription	NH-A	brain
34	chr12:38014000-38014800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:38014000-38014800	Weak transcription	Psoas Muscle	Psoas
36	chr12:38014000-38015000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:38014200-38015800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:38014400-38016000	Weak transcription	Stomach Mucosa	stomach
39	chr12:38014400-38016200	Weak transcription	Osteobl	bone
40	chr12:38014400-38017600	ZNF genes & repeats	Primary T cells from cord blood	blood
41	chr12:38014800-38015000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:38014800-38015200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
43	chr12:38014800-38015200	Active TSS	Psoas Muscle	Psoas
44	chr12:38015000-38015200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:38015000-38015200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:38015200-38016200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr12:38015200-38016200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:38015200-38016200	Weak transcription	Psoas Muscle	Psoas
49	chr12:38015800-38017400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
50	chr12:38016000-38017000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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