Variant report

Variant	nsv430504
Chromosome Location	chr12:34427833-34760333
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:30)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
2	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
3	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
4	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
5	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
6	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
7	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
8	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
9	chr12:34279057..34280887-chr12:34440053..34441876,2	K562	blood:
10	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
11	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
12	chr12:34275776..34276287-chr12:34445928..34446780,2	MCF-7	breast:
13	chr12:34275803..34276751-chr12:34446099..34446740,3	K562	blood:
14	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
15	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
16	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
17	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
18	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
19	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
20	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
21	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
22	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
23	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
24	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
25	chr12:34427757..34428277-chr16:33958747..33959470,2	MCF-7	breast:
26	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
27	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
28	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
29	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
30	chr12:34497610..34503522-chr12:34523490..34528831,5	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: 20212 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:20212 , 50 per page) page: 1 2 3 4 5 6 7 ... 405

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200006673	chr12:34427836-34427837	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183624451	chr12:34427843-34427844	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188522883	chr12:34427857-34427858	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527329288	chr12:34427874-34427875	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116776044	chr12:34427887-34427888	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371757709	chr12:34427892-34427893	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200106043	chr12:34427950-34427951	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562987373	chr12:34427962-34427963	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549050010	chr12:34427965-34427966	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202046645	chr12:34427986-34427987	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143423401	chr12:34427994-34427995	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567375574	chr12:34428008-34428009	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138013008	chr12:34428015-34428016	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143490888	chr12:34428064-34428065	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541223049	chr12:34428068-34428069	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533278970	chr12:34428077-34428078	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74075653	chr12:34428081-34428082	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs60312234	chr12:34428095-34428096	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs58735036	chr12:34428103-34428104	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs147093003	chr12:34428114-34428115	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191850064	chr12:34428121-34428122	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138468078	chr12:34428140-34428141	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142024403	chr12:34428152-34428153	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs55701970	chr12:34428156-34428157	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs12303859	chr12:34428163-34428164	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs7136902	chr12:34428166-34428167	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185106157	chr12:34428167-34428168	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562889008	chr12:34428169-34428170	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61931972	chr12:34428198-34428199	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs369843040	chr12:34428216-34428217	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545482608	chr12:34428270-34428271	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190345329	chr12:34428278-34428279	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573663489	chr12:34428284-34428285	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534631222	chr12:34428315-34428316	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560385634	chr12:34428319-34428320	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554603244	chr12:34428332-34428333	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115884425	chr12:34428345-34428346	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113276057	chr12:34428348-34428349	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181803508	chr12:34428349-34428350	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs118186275	chr12:34428370-34428371	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146288970	chr12:34428388-34428389	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187223878	chr12:34428401-34428402	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544050671	chr12:34428421-34428422	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533768732	chr12:34428422-34428423	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139636901	chr12:34428424-34428425	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369257164	chr12:34428425-34428426	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs58848327	chr12:34428443-34428444	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs536503352	chr12:34428455-34428456	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367643122	chr12:34428522-34428523	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189482458	chr12:34428533-34428534	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

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	chr12:34427000-34428200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:34427200-34428600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr12:34429200-34431200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr12:34429400-34431200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr12:34430400-34431400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr12:34430600-34431200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
10	chr12:34434200-34440800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr12:34438000-34439000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:34438800-34446600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:34439000-34441400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr12:34439200-34439800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr12:34439400-34445000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:34439400-34445400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:34440000-34446600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
18	chr12:34442200-34444000	Active TSS	K562	blood
19	chr12:34442400-34442800	Active TSS	A549	lung
20	chr12:34442800-34443200	Flanking Active TSS	A549	lung
21	chr12:34443200-34444200	Active TSS	A549	lung
22	chr12:34444000-34446000	Weak transcription	K562	blood
23	chr12:34446000-34446200	Flanking Active TSS	K562	blood
24	chr12:34446200-34446400	Enhancers	K562	blood
25	chr12:34446400-34446600	Flanking Active TSS	K562	blood
26	chr12:34447000-34448600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:34447600-34450600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr12:34448000-34462000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr12:34448400-34458800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:34449000-34449200	ZNF genes & repeats	Fetal Brain Female	brain
31	chr12:34449000-34449600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:34451600-34452000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:34451800-34453600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:34454600-34455400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr12:34455000-34455800	ZNF genes & repeats	Colonic Mucosa	Colon
36	chr12:34455000-34456000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
37	chr12:34457600-34457800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
38	chr12:34459800-34461200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:34460200-34512800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:34462200-34465600	Weak transcription	Right Atrium	heart
41	chr12:34462400-34474600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:34463600-34464000	Flanking Active TSS	K562	blood
43	chr12:34463800-34486200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
44	chr12:34464000-34465800	Weak transcription	K562	blood
45	chr12:34464000-34469600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
46	chr12:34465200-34466000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
47	chr12:34465800-34467000	Enhancers	K562	blood
48	chr12:34466000-34469000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
49	chr12:34468600-34475200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:34470200-34471400	ZNF genes & repeats	Fetal Muscle Trunk	muscle

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