Variant report

Variant	nsv558366
Chromosome Location	chr12:37992511-38094338
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000175548	chromatin interactions
ENSG00000163659	chromatin interactions

Extended variants
information (count: 12129 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:12129 , 50 per page) page: 1 2 3 4 5 6 7 ... 243

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12312188	chr12:37992511-37992512	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2892302	chr12:37992541-37992542	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199576380	chr12:37992558-37992559	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555752335	chr12:37992563-37992564	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111982291	chr12:37992595-37992596	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113280083	chr12:37992599-37992600	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192493747	chr12:37992602-37992603	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185746963	chr12:37992604-37992605	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145156181	chr12:37992611-37992612	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78715492	chr12:37992612-37992613	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145885258	chr12:37992615-37992616	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2387447	chr12:37992623-37992624	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs61101079	chr12:37992641-37992642	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138667257	chr12:37992654-37992655	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540343769	chr12:37992656-37992657	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201605944	chr12:37992667-37992668	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559854074	chr12:37992672-37992673	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188087278	chr12:37992676-37992677	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529422432	chr12:37992684-37992685	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199936859	chr12:37992698-37992699	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200857895	chr12:37992702-37992703	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201546863	chr12:37992710-37992711	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549150150	chr12:37992711-37992712	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78804825	chr12:37992712-37992713	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375415676	chr12:37992718-37992719	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549356676	chr12:37992719-37992720	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111385791	chr12:37992740-37992741	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113864807	chr12:37992745-37992746	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531545829	chr12:37992760-37992761	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147168039	chr12:37992763-37992764	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369366126	chr12:37992767-37992768	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202111679	chr12:37992770-37992771	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562872270	chr12:37992785-37992786	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200416869	chr12:37992796-37992797	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531907539	chr12:37992797-37992798	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552088218	chr12:37992798-37992799	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201131462	chr12:37992801-37992802	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377462651	chr12:37992805-37992806	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190650482	chr12:37992808-37992809	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534376517	chr12:37992826-37992827	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150441796	chr12:37992829-37992830	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138117126	chr12:37992831-37992832	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370926255	chr12:37992832-37992833	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535948812	chr12:37992847-37992848	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555738245	chr12:37992849-37992850	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575674601	chr12:37992870-37992871	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74221309	chr12:37992871-37992872	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375161977	chr12:37992873-37992874	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538540082	chr12:37992880-37992881	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571182783	chr12:37992885-37992886	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

Chromatin state (count:695 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:37989800-38041200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr12:37990000-37993400	ZNF genes & repeats	Primary T cells from cord blood	blood
3	chr12:37990000-38040800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr12:37990400-37993600	Weak transcription	Psoas Muscle	Psoas
5	chr12:37990400-38014000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:37991400-37993200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
7	chr12:37991600-37994000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr12:37991600-37994400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr12:37991800-37998200	Weak transcription	K562	blood
10	chr12:37993600-37994400	Active TSS	Psoas Muscle	Psoas
11	chr12:37995200-38003400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
12	chr12:37997200-38000200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:37997400-37997800	ZNF genes & repeats	Fetal Brain Male	brain
14	chr12:37997400-37998400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:37997800-37998800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr12:37997800-38000200	ZNF genes & repeats	HepG2	liver
17	chr12:37998000-37998400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr12:37998000-37998600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
19	chr12:37998000-38002400	ZNF genes & repeats	Primary T cells from cord blood	blood
20	chr12:37998000-38002800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
21	chr12:37998200-37998400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:37998200-37998400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:37998200-37998400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:37998200-37998400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:37998200-37998400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
26	chr12:37998200-37998400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
27	chr12:37998200-37998400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
28	chr12:37998200-37998400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:37998200-37998400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
30	chr12:37998200-37998400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:37998200-37998400	Enhancers	Aorta	Aorta
32	chr12:37998200-37998400	ZNF genes & repeats	Liver	Liver
33	chr12:37998200-37998400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
34	chr12:37998200-37998400	ZNF genes & repeats	Brain Hippocampus Middle	brain
35	chr12:37998200-37998400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
36	chr12:37998200-37998400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:37998200-37998400	ZNF genes & repeats	Brain Substantia Nigra	brain
38	chr12:37998200-37998400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
39	chr12:37998200-37998400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
40	chr12:37998200-37998400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
41	chr12:37998200-37998400	ZNF genes & repeats	Stomach Mucosa	stomach
42	chr12:37998200-37998400	ZNF genes & repeats	Dnd41	blood
43	chr12:37998200-37998400	ZNF genes & repeats	HMEC	breast
44	chr12:37998200-37998400	ZNF genes & repeats	HSMMtube	muscle
45	chr12:37998200-37998400	ZNF genes & repeats	K562	blood
46	chr12:37998200-37998400	ZNF genes & repeats	NH-A	brain
47	chr12:37998200-37998400	ZNF genes & repeats	NHLF	lung
48	chr12:37998200-37998600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
49	chr12:37998200-38000000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:37998400-37999200	Weak transcription	Brain Cingulate Gyrus	brain

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