Variant report

Variant	nsv1043555
Chromosome Location	chr12:34418469-34559297
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:2)
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	chr12:34275803..34276751-chr12:34446099..34446740,3	K562	blood:
2	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
3	chr12:34427757..34428277-chr16:33958747..33959470,2	MCF-7	breast:
4	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
5	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
6	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
7	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
8	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
9	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
10	chr12:34279057..34280887-chr12:34440053..34441876,2	K562	blood:
11	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
12	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
13	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
14	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
15	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
16	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
17	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
18	chr12:34275776..34276287-chr12:34445928..34446780,2	MCF-7	breast:
19	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
20	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
21	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
22	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
23	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
24	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
25	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
26	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
27	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
28	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
29	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
30	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALG10-5	chr12:34430929-34431017	NONHSAT027661
2	lnc-ALG10-5	chr12:34421984-34422141	NONHSAT027661

No data

Extended variants
information (count: 9632 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:9632 , 50 per page) page: 1 2 3 4 5 6 7 ... 193

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536012687	chr12:34418481-34418482	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75409184	chr12:34418518-34418519	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537338698	chr12:34418554-34418555	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186972340	chr12:34418567-34418568	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143098640	chr12:34418590-34418591	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558267463	chr12:34418591-34418592	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571958144	chr12:34418604-34418605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145151949	chr12:34418608-34418609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190605664	chr12:34418609-34418610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575106468	chr12:34418615-34418616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533745808	chr12:34418625-34418626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563805904	chr12:34418632-34418633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532642607	chr12:34418660-34418661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546232451	chr12:34418661-34418662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376946551	chr12:34418681-34418682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116894511	chr12:34418683-34418684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558989905	chr12:34418687-34418688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113555991	chr12:34418695-34418696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547398761	chr12:34418709-34418710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567203801	chr12:34418710-34418711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529874739	chr12:34418725-34418726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549558961	chr12:34418730-34418731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569461091	chr12:34418787-34418788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7487048	chr12:34418791-34418792	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs369137698	chr12:34418793-34418794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558579079	chr12:34418804-34418805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565553000	chr12:34418805-34418806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534580682	chr12:34418810-34418811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372695075	chr12:34418834-34418835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144655197	chr12:34418835-34418836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563523413	chr12:34418851-34418852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544070685	chr12:34418853-34418854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557585268	chr12:34418868-34418869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577327853	chr12:34418872-34418873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545997018	chr12:34418873-34418874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182249718	chr12:34418886-34418887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112734906	chr12:34418904-34418905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557061335	chr12:34418906-34418907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112961700	chr12:34418923-34418924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560890635	chr12:34418928-34418929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575620055	chr12:34418950-34418951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542722435	chr12:34418958-34418959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529938010	chr12:34418969-34418970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185993367	chr12:34418970-34418971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564631229	chr12:34418992-34418993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549620450	chr12:34418995-34418996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111725751	chr12:34418996-34418997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532297275	chr12:34419016-34419017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552007461	chr12:34419023-34419024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189734996	chr12:34419089-34419090	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:273 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34415800-34431400	Weak transcription	Right Atrium	heart
2	chr12:34417000-34418600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr12:34418000-34418600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr12:34418200-34427200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:34418600-34427000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:34419200-34431400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr12:34426000-34426200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:34426000-34426200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr12:34426200-34427000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:34426200-34427200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:34426800-34431400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:34427000-34427200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr12:34427000-34427200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:34427000-34427200	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:34427000-34427200	Bivalent/Poised TSS	Gastric	stomach
16	chr12:34427000-34427400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
17	chr12:34427000-34427400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:34427000-34427400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
19	chr12:34427000-34427400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
20	chr12:34427000-34427400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:34427000-34427400	ZNF genes & repeats	Colon Smooth Muscle	Colon
22	chr12:34427000-34427600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:34427000-34428200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:34427200-34427400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
25	chr12:34427200-34427800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr12:34427200-34428600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr12:34429200-34431200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr12:34429400-34431200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr12:34430400-34431400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr12:34430600-34431200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
31	chr12:34434200-34440800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr12:34438000-34439000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:34438800-34446600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:34439000-34441400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
35	chr12:34439200-34439800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
36	chr12:34439400-34445000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:34439400-34445400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:34440000-34446600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
39	chr12:34442200-34444000	Active TSS	K562	blood
40	chr12:34442400-34442800	Active TSS	A549	lung
41	chr12:34442800-34443200	Flanking Active TSS	A549	lung
42	chr12:34443200-34444200	Active TSS	A549	lung
43	chr12:34444000-34446000	Weak transcription	K562	blood
44	chr12:34446000-34446200	Flanking Active TSS	K562	blood
45	chr12:34446200-34446400	Enhancers	K562	blood
46	chr12:34446400-34446600	Flanking Active TSS	K562	blood
47	chr12:34447000-34448600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:34447600-34450600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
49	chr12:34448000-34462000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
50	chr12:34448400-34458800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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