Variant report

Variant	nsv1046347
Chromosome Location	chr12:34454121-34854486
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:34844822..34846343-chr7:8071587..8073511,2	MCF-7	breast:
2	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
3	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
4	chr12:34844825..34846346-chr19:27731692..27733219,2	K562	blood:
5	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
6	chr12:34191233..34191868-chr12:34777963..34778741,2	MCF-7	breast:
7	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
8	chr12:34844846..34846346-chr19:27731700..27733247,2	MCF-7	breast:
9	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
10	chr1:121482950..121485225-chr12:34844826..34846345,4	MCF-7	breast:
11	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
12	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
13	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
14	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
15	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
16	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
17	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
18	chr12:34844846..34846346-chr19:27730625..27733192,2	K562	blood:
19	chr12:34275660..34276572-chr12:34778082..34778680,2	MCF-7	breast:
20	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
21	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
22	chr10:42528102..42529921-chr12:34831375..34832895,2	K562	blood:
23	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:
24	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
25	chr1:121483532..121485426-chr12:34844824..34846350,3	K562	blood:
26	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
27	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
28	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
29	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
30	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
31	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
32	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
33	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
34	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
35	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
36	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:

No data

Extended variants
information (count: 26397 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:26397 , 50 per page) page: 1 2 3 4 5 6 7 ... 528

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60669876	chr12:34454130-34454131	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs151154758	chr12:34454144-34454145	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs541510390	chr12:34454157-34454158	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs189350580	chr12:34454209-34454210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs75587228	chr12:34454228-34454229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs149564629	chr12:34454244-34454245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs370664908	chr12:34454252-34454253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs530194536	chr12:34454257-34454258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs141113571	chr12:34454266-34454267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs144982846	chr12:34454281-34454282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs147589106	chr12:34454294-34454295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs7314457	chr12:34454301-34454302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs565307172	chr12:34454309-34454310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs528089699	chr12:34454310-34454311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs549615965	chr12:34454314-34454315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs547838626	chr12:34454334-34454335	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs567884761	chr12:34454349-34454350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs373640926	chr12:34454359-34454360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs73312676	chr12:34454363-34454364	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs557112972	chr12:34454376-34454377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs570592274	chr12:34454387-34454388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs549747249	chr12:34454388-34454389	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs371010824	chr12:34454389-34454390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs74074359	chr12:34454404-34454405	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs192383993	chr12:34454445-34454446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs572438155	chr12:34454451-34454452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs546948993	chr12:34454496-34454497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs74074360	chr12:34454506-34454507	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs554718722	chr12:34454521-34454522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs574866672	chr12:34454533-34454534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs543586595	chr12:34454563-34454564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs563883666	chr12:34454569-34454570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs73312678	chr12:34454570-34454571	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs538743666	chr12:34454571-34454572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs546051547	chr12:34454577-34454578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs553978515	chr12:34454596-34454597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs559628080	chr12:34454597-34454598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs528028089	chr12:34454638-34454639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs557267553	chr12:34454642-34454643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs12314091	chr12:34454657-34454658	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs183836991	chr12:34454674-34454675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs150460931	chr12:34454680-34454681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs533764967	chr12:34454684-34454685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs539661708	chr12:34454741-34454742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs555609545	chr12:34454762-34454763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs10743846	chr12:34454773-34454774	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs138264609	chr12:34454779-34454780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs535796584	chr12:34454790-34454791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs554933485	chr12:34454813-34454814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs574768981	chr12:34454833-34454834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19214233	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:982 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34448000-34462000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr12:34448400-34458800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:34454600-34455400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr12:34455000-34455800	ZNF genes & repeats	Colonic Mucosa	Colon
5	chr12:34455000-34456000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr12:34457600-34457800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
7	chr12:34459800-34461200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:34460200-34512800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:34462200-34465600	Weak transcription	Right Atrium	heart
10	chr12:34462400-34474600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:34463600-34464000	Flanking Active TSS	K562	blood
12	chr12:34463800-34486200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
13	chr12:34464000-34465800	Weak transcription	K562	blood
14	chr12:34464000-34469600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
15	chr12:34465200-34466000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
16	chr12:34465800-34467000	Enhancers	K562	blood
17	chr12:34466000-34469000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr12:34468600-34475200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:34470200-34471400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
20	chr12:34472600-34473600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:34473000-34473200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:34473600-34489600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr12:34474600-34475200	ZNF genes & repeats	Spleen	Spleen
24	chr12:34475400-34475600	ZNF genes & repeats	Fetal Brain Female	brain
25	chr12:34475600-34479400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:34478200-34478400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
27	chr12:34480400-34559800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:34481800-34482200	Active TSS	Primary T cells from cord blood	blood
29	chr12:34484200-34488800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:34486200-34487000	Enhancers	K562	blood
31	chr12:34486400-34487600	Bivalent Enhancer	Placenta	Placenta
32	chr12:34486400-34488000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:34487000-34487800	Weak transcription	K562	blood
34	chr12:34487800-34488000	Bivalent/Poised TSS	A549	lung
35	chr12:34487800-34488600	Active TSS	K562	blood
36	chr12:34488000-34488400	Flanking Bivalent TSS/Enh	A549	lung
37	chr12:34488400-34489000	Bivalent/Poised TSS	A549	lung
38	chr12:34488400-34489200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr12:34488600-34488800	Flanking Active TSS	K562	blood
40	chr12:34488600-34489000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
41	chr12:34488800-34489000	Active TSS	K562	blood
42	chr12:34488800-34490600	Bivalent Enhancer	Placenta	Placenta
43	chr12:34489000-34490600	Flanking Bivalent TSS/Enh	A549	lung
44	chr12:34489000-34490600	Flanking Active TSS	K562	blood
45	chr12:34489800-34490200	Bivalent/Poised TSS	HepG2	liver
46	chr12:34490600-34490800	Enhancers	K562	blood
47	chr12:34490600-34491200	Bivalent Enhancer	A549	lung
48	chr12:34491400-34492600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:34491600-34492200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:34491600-34498400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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