Variant report

Variant	nsv819238
Chromosome Location	chr12:34430676-34540257
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:22)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:34275776..34276287-chr12:34445928..34446780,2	MCF-7	breast:
2	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
3	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
4	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
5	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
6	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
7	chr12:34279057..34280887-chr12:34440053..34441876,2	K562	blood:
8	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
9	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
10	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
11	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
12	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
13	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
14	chr12:34275803..34276751-chr12:34446099..34446740,3	K562	blood:
15	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
16	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
17	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
18	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
19	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
20	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
21	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
22	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALG10-5	chr12:34430929-34431017	NONHSAT027661

No data

Extended variants
information (count: 7254 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:7254 , 50 per page) page: 1 2 3 4 5 6 7 ... 146

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539873359	chr12:34430677-34430678	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111692113	chr12:34430679-34430680	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547041863	chr12:34430680-34430681	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184774907	chr12:34430710-34430711	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188036925	chr12:34430715-34430716	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529272538	chr12:34430716-34430717	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs193020035	chr12:34430720-34430721	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78440764	chr12:34430721-34430722	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147800648	chr12:34430735-34430736	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557205890	chr12:34430743-34430744	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185357207	chr12:34430746-34430747	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553985295	chr12:34430766-34430767	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75266890	chr12:34430768-34430769	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115874365	chr12:34430781-34430782	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78117450	chr12:34430829-34430830	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78212408	chr12:34430834-34430835	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79115449	chr12:34430841-34430842	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75427875	chr12:34430845-34430846	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189429112	chr12:34430860-34430861	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75868128	chr12:34430862-34430863	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79601387	chr12:34430868-34430869	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541802685	chr12:34430882-34430883	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554893387	chr12:34430885-34430886	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575541746	chr12:34430887-34430888	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544469244	chr12:34430900-34430901	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78975064	chr12:34430918-34430919	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542731106	chr12:34430921-34430922	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76929267	chr12:34430926-34430927	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564360644	chr12:34430944-34430945	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs533546919	chr12:34430946-34430947	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs79844352	chr12:34430949-34430950	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs76477677	chr12:34430953-34430954	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs77139945	chr12:34430959-34430960	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs75573708	chr12:34430961-34430962	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs140148256	chr12:34430989-34430990	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs80216680	chr12:34430994-34430995	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs73310589	chr12:34430999-34431000	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs182041268	chr12:34431004-34431005	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs200966219	chr12:34431005-34431006	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs77324264	chr12:34431006-34431007	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs74377647	chr12:34431010-34431011	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs150250982	chr12:34431023-34431024	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74450987	chr12:34431026-34431027	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79463122	chr12:34431027-34431028	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78596820	chr12:34431033-34431034	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138874133	chr12:34431050-34431051	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113157005	chr12:34431057-34431058	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149014164	chr12:34431060-34431061	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575948697	chr12:34431072-34431073	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183712997	chr12:34431104-34431105	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19214233	CNVD

Chromatin state (count:214 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34415800-34431400	Weak transcription	Right Atrium	heart
2	chr12:34419200-34431400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr12:34426800-34431400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:34429200-34431200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr12:34429400-34431200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr12:34430400-34431400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr12:34430600-34431200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
8	chr12:34434200-34440800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr12:34438000-34439000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:34438800-34446600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:34439000-34441400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr12:34439200-34439800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
13	chr12:34439400-34445000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:34439400-34445400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:34440000-34446600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
16	chr12:34442200-34444000	Active TSS	K562	blood
17	chr12:34442400-34442800	Active TSS	A549	lung
18	chr12:34442800-34443200	Flanking Active TSS	A549	lung
19	chr12:34443200-34444200	Active TSS	A549	lung
20	chr12:34444000-34446000	Weak transcription	K562	blood
21	chr12:34446000-34446200	Flanking Active TSS	K562	blood
22	chr12:34446200-34446400	Enhancers	K562	blood
23	chr12:34446400-34446600	Flanking Active TSS	K562	blood
24	chr12:34447000-34448600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:34447600-34450600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr12:34448000-34462000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
27	chr12:34448400-34458800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:34449000-34449200	ZNF genes & repeats	Fetal Brain Female	brain
29	chr12:34449000-34449600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:34451600-34452000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:34451800-34453600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:34454600-34455400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr12:34455000-34455800	ZNF genes & repeats	Colonic Mucosa	Colon
34	chr12:34455000-34456000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
35	chr12:34457600-34457800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
36	chr12:34459800-34461200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:34460200-34512800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:34462200-34465600	Weak transcription	Right Atrium	heart
39	chr12:34462400-34474600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:34463600-34464000	Flanking Active TSS	K562	blood
41	chr12:34463800-34486200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
42	chr12:34464000-34465800	Weak transcription	K562	blood
43	chr12:34464000-34469600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
44	chr12:34465200-34466000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
45	chr12:34465800-34467000	Enhancers	K562	blood
46	chr12:34466000-34469000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
47	chr12:34468600-34475200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:34470200-34471400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
49	chr12:34472600-34473600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:34473000-34473200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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