Variant report

Variant	nsv558321
Chromosome Location	chr12:34695850-34853011
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:
2	chr12:34191233..34191868-chr12:34777963..34778741,2	MCF-7	breast:
3	chr1:121482950..121485225-chr12:34844826..34846345,4	MCF-7	breast:
4	chr12:34844846..34846346-chr19:27730625..27733192,2	K562	blood:
5	chr12:34275660..34276572-chr12:34778082..34778680,2	MCF-7	breast:
6	chr12:34844822..34846343-chr7:8071587..8073511,2	MCF-7	breast:
7	chr10:42528102..42529921-chr12:34831375..34832895,2	K562	blood:
8	chr12:34844825..34846346-chr19:27731692..27733219,2	K562	blood:
9	chr12:34844846..34846346-chr19:27731700..27733247,2	MCF-7	breast:
10	chr1:121483532..121485426-chr12:34844824..34846350,3	K562	blood:

No data

Extended variants
information (count: 11625 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:11625 , 50 per page) page: 1 2 3 4 5 6 7 ... 233

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9300217	chr12:34695850-34695851	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116388497	chr12:34695855-34695856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs189645475	chr12:34695862-34695863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs139774243	chr12:34695865-34695866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs576392007	chr12:34695873-34695874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs368276736	chr12:34695894-34695895	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs370856714	chr12:34695900-34695901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs73101698	chr12:34695921-34695922	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs527805863	chr12:34695925-34695926	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs116160306	chr12:34695928-34695929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs144764383	chr12:34695929-34695930	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs60594614	chr12:34695933-34695934	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551373553	chr12:34695934-34695935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs147872960	chr12:34695946-34695947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs113452307	chr12:34695959-34695960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs141576228	chr12:34695960-34695961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs145282931	chr12:34695985-34695986	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs145110465	chr12:34696014-34696015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs10772199	chr12:34696045-34696046	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs149075794	chr12:34696053-34696054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs181699727	chr12:34696106-34696107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs532901575	chr12:34696117-34696118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs557106878	chr12:34696119-34696120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs143132025	chr12:34696127-34696128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs185206807	chr12:34696129-34696130	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs374646448	chr12:34696130-34696131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs11513558	chr12:34696148-34696149	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs572072359	chr12:34696194-34696195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs541149015	chr12:34696207-34696208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs189428792	chr12:34696267-34696268	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs530241602	chr12:34696282-34696283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs55767804	chr12:34696284-34696285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs112343941	chr12:34696293-34696294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs562502105	chr12:34696299-34696300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs529780626	chr12:34696301-34696302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs182077137	chr12:34696339-34696340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs137871110	chr12:34696366-34696367	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs552822548	chr12:34696367-34696368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs10772200	chr12:34696388-34696389	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs377501488	chr12:34696410-34696411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs372148440	chr12:34696412-34696413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs528066073	chr12:34696415-34696416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs76104884	chr12:34696416-34696417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs142374336	chr12:34696457-34696458	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs370911309	chr12:34696476-34696477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs537138395	chr12:34696477-34696478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs578174162	chr12:34696498-34696499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs142219018	chr12:34696512-34696513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs376894166	chr12:34696522-34696523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs545343230	chr12:34696544-34696545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
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
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
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Bipolar disorder	19214233	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:689 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34684000-34708400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:34689800-34707200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr12:34691800-34698400	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr12:34693800-34701400	ZNF genes & repeats	Liver	Liver
5	chr12:34696000-34696800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:34699800-34711400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr12:34704000-34714600	ZNF genes & repeats	Liver	Liver
8	chr12:34704600-34706800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr12:34707200-34708400	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr12:34709800-34713600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr12:34712400-34728200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:34712800-34716000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr12:34717000-34717400	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr12:34719600-34722000	ZNF genes & repeats	Liver	Liver
15	chr12:34720800-34721200	Active TSS	Aorta	Aorta
16	chr12:34720800-34721400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
17	chr12:34721200-34726600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr12:34723200-34727200	ZNF genes & repeats	Liver	Liver
19	chr12:34724400-34726400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr12:34725400-34727800	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr12:34731000-34733400	ZNF genes & repeats	Liver	Liver
22	chr12:34735400-34748800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:34736800-34750800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr12:34737200-34740600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr12:34737800-34751000	ZNF genes & repeats	Liver	Liver
26	chr12:34738800-34739800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:34739800-34749400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr12:34740800-34741400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr12:34742000-34742400	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr12:34742400-34743000	Active TSS	Right Atrium	heart
31	chr12:34742400-34750600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
32	chr12:34743000-34753400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr12:34747400-34758800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:34747800-34761200	ZNF genes & repeats	Adipose Nuclei	Adipose
35	chr12:34748600-34748800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
36	chr12:34748800-34751200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:34748800-34752400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:34749000-34760600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
39	chr12:34749200-34750800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
40	chr12:34750000-34751000	ZNF genes & repeats	Spleen	Spleen
41	chr12:34752600-34752800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
42	chr12:34752800-34754400	ZNF genes & repeats	Fetal Stomach	stomach
43	chr12:34752800-34761000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:34753000-34757600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr12:34757600-34758200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:34758000-34761000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
47	chr12:34759000-34761000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
48	chr12:34767000-34767400	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr12:34768000-34770200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
50	chr12:34768000-34770800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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