Variant report

Variant	nsv826321
Chromosome Location	chr12:34417554-34555454
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:31)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
2	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
3	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
4	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
5	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
6	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
7	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
8	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
9	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
10	chr12:34275803..34276751-chr12:34446099..34446740,3	K562	blood:
11	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
12	chr12:34279057..34280887-chr12:34440053..34441876,2	K562	blood:
13	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
14	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
15	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
16	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
17	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
18	chr12:34427757..34428277-chr16:33958747..33959470,2	MCF-7	breast:
19	chr12:34275776..34276287-chr12:34445928..34446780,2	MCF-7	breast:
20	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
21	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
22	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
23	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
24	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
25	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
26	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
27	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
28	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
29	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
30	chr12:34416477..34418281-chr16:33956682..33958772,3	MCF-7	breast:
31	chr12:34491491..34493706-chr12:34544208..34545803,2	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: 9361 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:9361 , 50 per page) page: 1 2 3 4 5 6 7 ... 188

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531880407	chr12:34417555-34417556	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551613276	chr12:34417560-34417561	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73100289	chr12:34417565-34417566	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs74075646	chr12:34417567-34417568	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs547894437	chr12:34417579-34417580	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567635981	chr12:34417582-34417583	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536682233	chr12:34417583-34417584	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116495861	chr12:34417592-34417593	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111637623	chr12:34417596-34417597	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552627141	chr12:34417615-34417616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116367832	chr12:34417682-34417683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147780291	chr12:34417690-34417691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12824730	chr12:34417692-34417693	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs185198765	chr12:34417701-34417702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368186614	chr12:34417725-34417726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553859967	chr12:34417726-34417727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76379521	chr12:34417738-34417739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573638779	chr12:34417753-34417754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542262854	chr12:34417774-34417775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76014614	chr12:34417785-34417786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141100554	chr12:34417786-34417787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545311646	chr12:34417798-34417799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565412973	chr12:34417822-34417823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188861421	chr12:34417827-34417828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548037968	chr12:34417828-34417829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201130129	chr12:34417857-34417858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146969633	chr12:34417915-34417916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs193147423	chr12:34417944-34417945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535945968	chr12:34417945-34417946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199790235	chr12:34417968-34417969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184417367	chr12:34417970-34417971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112169157	chr12:34417975-34417976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534754100	chr12:34418019-34418020	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188273392	chr12:34418034-34418035	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191378846	chr12:34418035-34418036	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150960087	chr12:34418044-34418045	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534026167	chr12:34418045-34418046	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553683124	chr12:34418047-34418048	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140752041	chr12:34418048-34418049	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111847696	chr12:34418061-34418062	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573455736	chr12:34418106-34418107	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535952599	chr12:34418126-34418127	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117720393	chr12:34418142-34418143	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183866208	chr12:34418149-34418150	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548288746	chr12:34418160-34418161	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544584021	chr12:34418166-34418167	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565608614	chr12:34418178-34418179	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568579672	chr12:34418216-34418217	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572643247	chr12:34418233-34418234	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188583632	chr12:34418234-34418235	Weak transcription ZNF genes & repeats Enhancers	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:268 , 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	chr12:34416600-34417600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:34417000-34418600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:34418000-34418600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr12:34418200-34427200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:34418600-34427000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:34419200-34431400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr12:34426000-34426200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:34426000-34426200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:34426200-34427000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:34426200-34427200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:34426800-34431400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:34427000-34427200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr12:34427000-34427200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:34427000-34427200	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:34427000-34427200	Bivalent/Poised TSS	Gastric	stomach
17	chr12:34427000-34427400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
18	chr12:34427000-34427400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:34427000-34427400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
20	chr12:34427000-34427400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
21	chr12:34427000-34427400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:34427000-34427400	ZNF genes & repeats	Colon Smooth Muscle	Colon
23	chr12:34427000-34427600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr12:34427000-34428200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:34427200-34427400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
26	chr12:34427200-34427800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr12:34427200-34428600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr12:34429200-34431200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr12:34429400-34431200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
30	chr12:34430400-34431400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr12:34430600-34431200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
32	chr12:34434200-34440800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr12:34438000-34439000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:34438800-34446600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:34439000-34441400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
36	chr12:34439200-34439800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
37	chr12:34439400-34445000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:34439400-34445400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:34440000-34446600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
40	chr12:34442200-34444000	Active TSS	K562	blood
41	chr12:34442400-34442800	Active TSS	A549	lung
42	chr12:34442800-34443200	Flanking Active TSS	A549	lung
43	chr12:34443200-34444200	Active TSS	A549	lung
44	chr12:34444000-34446000	Weak transcription	K562	blood
45	chr12:34446000-34446200	Flanking Active TSS	K562	blood
46	chr12:34446200-34446400	Enhancers	K562	blood
47	chr12:34446400-34446600	Flanking Active TSS	K562	blood
48	chr12:34447000-34448600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:34447600-34450600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr12:34448000-34462000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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