Variant report

Variant	nsv1044553
Chromosome Location	chr12:34697234-34854486
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	chr12:34844822..34846343-chr7:8071587..8073511,2	MCF-7	breast:
2	chr12:34844825..34846346-chr19:27731692..27733219,2	K562	blood:
3	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:
4	chr1:121483532..121485426-chr12:34844824..34846350,3	K562	blood:
5	chr12:34191233..34191868-chr12:34777963..34778741,2	MCF-7	breast:
6	chr1:121482950..121485225-chr12:34844826..34846345,4	MCF-7	breast:
7	chr10:42528102..42529921-chr12:34831375..34832895,2	K562	blood:
8	chr12:34844846..34846346-chr19:27731700..27733247,2	MCF-7	breast:
9	chr12:34275660..34276572-chr12:34778082..34778680,2	MCF-7	breast:
10	chr12:34844846..34846346-chr19:27730625..27733192,2	K562	blood:

No data

Extended variants
information (count: 11776 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:11776 , 50 per page) page: 1 2 3 4 5 6 7 ... 236

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542523892	chr12:34697244-34697245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs117049917	chr12:34697255-34697256	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs114249210	chr12:34697256-34697257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs183506790	chr12:34697266-34697267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs532876115	chr12:34697269-34697270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs549019333	chr12:34697276-34697277	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs546437164	chr12:34697297-34697298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs566309167	chr12:34697309-34697310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs201820735	chr12:34697314-34697315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs373896970	chr12:34697315-34697316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs535395111	chr12:34697323-34697324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs548831571	chr12:34697330-34697331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs568386286	chr12:34697339-34697340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs537407617	chr12:34697340-34697341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs557186410	chr12:34697341-34697342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs561269250	chr12:34697352-34697353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs375767773	chr12:34697378-34697379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs188550349	chr12:34697383-34697384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs553635633	chr12:34697399-34697400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs190886307	chr12:34697404-34697405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs367959973	chr12:34697446-34697447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs562321131	chr12:34697466-34697467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs183393081	chr12:34697532-34697533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs370223027	chr12:34697540-34697541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs186610259	chr12:34697603-34697604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs147489661	chr12:34697604-34697605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs556455685	chr12:34697614-34697615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs115546178	chr12:34697621-34697622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs56210343	chr12:34697665-34697666	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs559933142	chr12:34697689-34697690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs191145056	chr12:34697705-34697706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs139837235	chr12:34697719-34697720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs569095209	chr12:34697744-34697745	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs145357951	chr12:34697762-34697763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs150998486	chr12:34697767-34697768	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs570739349	chr12:34697770-34697771	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs139618587	chr12:34697775-34697776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs11494884	chr12:34697805-34697806	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs184436645	chr12:34697819-34697820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs188098070	chr12:34697822-34697823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs10844943	chr12:34697833-34697834	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs555672523	chr12:34697836-34697837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs149755474	chr12:34697867-34697868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs145556327	chr12:34697874-34697875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs140355302	chr12:34697903-34697904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs192785047	chr12:34697977-34697978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs577533509	chr12:34697990-34697991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs540623056	chr12:34698020-34698021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs559772106	chr12:34698022-34698023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs529066636	chr12:34698032-34698033	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:692 , 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	chr12:34699800-34711400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr12:34704000-34714600	ZNF genes & repeats	Liver	Liver
7	chr12:34704600-34706800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr12:34707200-34708400	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr12:34709800-34713600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr12:34712400-34728200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:34712800-34716000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr12:34717000-34717400	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr12:34719600-34722000	ZNF genes & repeats	Liver	Liver
14	chr12:34720800-34721200	Active TSS	Aorta	Aorta
15	chr12:34720800-34721400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr12:34721200-34726600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr12:34723200-34727200	ZNF genes & repeats	Liver	Liver
18	chr12:34724400-34726400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr12:34725400-34727800	ZNF genes & repeats	Adipose Nuclei	Adipose
20	chr12:34731000-34733400	ZNF genes & repeats	Liver	Liver
21	chr12:34735400-34748800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:34736800-34750800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr12:34737200-34740600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr12:34737800-34751000	ZNF genes & repeats	Liver	Liver
25	chr12:34738800-34739800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:34739800-34749400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr12:34740800-34741400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
28	chr12:34742000-34742400	ZNF genes & repeats	Adipose Nuclei	Adipose
29	chr12:34742400-34743000	Active TSS	Right Atrium	heart
30	chr12:34742400-34750600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr12:34743000-34753400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr12:34747400-34758800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:34747800-34761200	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr12:34748600-34748800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
35	chr12:34748800-34751200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:34748800-34752400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:34749000-34760600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
38	chr12:34749200-34750800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
39	chr12:34750000-34751000	ZNF genes & repeats	Spleen	Spleen
40	chr12:34752600-34752800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
41	chr12:34752800-34754400	ZNF genes & repeats	Fetal Stomach	stomach
42	chr12:34752800-34761000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:34753000-34757600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
44	chr12:34757600-34758200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:34758000-34761000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
46	chr12:34759000-34761000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
47	chr12:34767000-34767400	ZNF genes & repeats	Adipose Nuclei	Adipose
48	chr12:34768000-34770200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
49	chr12:34768000-34770800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:34768200-34769200	ZNF genes & repeats	Liver	Liver

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