Variant report

Variant	nsv1038416
Chromosome Location	chr12:34444790-34559297
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

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

No data

Extended variants
information (count: 8155 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:8155 , 50 per page) page: 1 2 3 4 5 6 7 ... 164

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576076846	chr12:34444816-34444817	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545035043	chr12:34444833-34444834	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12305253	chr12:34444865-34444866	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs116253634	chr12:34444872-34444873	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547221743	chr12:34444900-34444901	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561125662	chr12:34444902-34444903	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529878115	chr12:34444955-34444956	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191429353	chr12:34444972-34444973	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374080566	chr12:34444984-34444985	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571420024	chr12:34444985-34444986	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542768058	chr12:34444989-34444990	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569629739	chr12:34445000-34445001	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537810578	chr12:34445025-34445026	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538845783	chr12:34445063-34445064	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374983603	chr12:34445074-34445075	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs60087606	chr12:34445090-34445091	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551366914	chr12:34445092-34445093	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571599642	chr12:34445093-34445094	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545865983	chr12:34445115-34445116	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143000146	chr12:34445118-34445119	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147328140	chr12:34445139-34445140	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200402143	chr12:34445164-34445165	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146711954	chr12:34445178-34445179	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377594128	chr12:34445213-34445214	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536578059	chr12:34445219-34445220	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554253225	chr12:34445232-34445233	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536856239	chr12:34445251-34445252	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56302908	chr12:34445252-34445253	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs79175141	chr12:34445282-34445283	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115394776	chr12:34445374-34445375	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543111617	chr12:34445377-34445378	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531688007	chr12:34445384-34445385	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140972961	chr12:34445395-34445396	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549884489	chr12:34445406-34445407	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558236286	chr12:34445410-34445411	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541100799	chr12:34445422-34445423	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560842011	chr12:34445426-34445427	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371979297	chr12:34445447-34445448	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113271635	chr12:34445450-34445451	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7298322	chr12:34445489-34445490	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs532273793	chr12:34445496-34445497	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552096076	chr12:34445540-34445541	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11513529	chr12:34445543-34445544	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147867445	chr12:34445609-34445610	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374468480	chr12:34445613-34445614	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533966597	chr12:34445640-34445641	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368581034	chr12:34445663-34445664	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547839408	chr12:34445668-34445669	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567667000	chr12:34445743-34445744	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536798987	chr12:34445755-34445756	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Ovarian clear cell carcinoma	21343371	CNVD
Bipolar disorder	19214233	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:235 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34438800-34446600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:34439400-34445000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:34439400-34445400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:34440000-34446600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
5	chr12:34444000-34446000	Weak transcription	K562	blood
6	chr12:34446000-34446200	Flanking Active TSS	K562	blood
7	chr12:34446200-34446400	Enhancers	K562	blood
8	chr12:34446400-34446600	Flanking Active TSS	K562	blood
9	chr12:34447000-34448600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:34447600-34450600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr12:34448000-34462000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr12:34448400-34458800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:34449000-34449200	ZNF genes & repeats	Fetal Brain Female	brain
14	chr12:34449000-34449600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:34451600-34452000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:34451800-34453600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:34454600-34455400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr12:34455000-34455800	ZNF genes & repeats	Colonic Mucosa	Colon
19	chr12:34455000-34456000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr12:34457600-34457800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
21	chr12:34459800-34461200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:34460200-34512800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:34462200-34465600	Weak transcription	Right Atrium	heart
24	chr12:34462400-34474600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:34463600-34464000	Flanking Active TSS	K562	blood
26	chr12:34463800-34486200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
27	chr12:34464000-34465800	Weak transcription	K562	blood
28	chr12:34464000-34469600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr12:34465200-34466000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
30	chr12:34465800-34467000	Enhancers	K562	blood
31	chr12:34466000-34469000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr12:34468600-34475200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:34470200-34471400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
34	chr12:34472600-34473600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:34473000-34473200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:34473600-34489600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
37	chr12:34474600-34475200	ZNF genes & repeats	Spleen	Spleen
38	chr12:34475400-34475600	ZNF genes & repeats	Fetal Brain Female	brain
39	chr12:34475600-34479400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:34478200-34478400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
41	chr12:34480400-34559800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:34481800-34482200	Active TSS	Primary T cells from cord blood	blood
43	chr12:34484200-34488800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:34486200-34487000	Enhancers	K562	blood
45	chr12:34486400-34487600	Bivalent Enhancer	Placenta	Placenta
46	chr12:34486400-34488000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:34487000-34487800	Weak transcription	K562	blood
48	chr12:34487800-34488000	Bivalent/Poised TSS	A549	lung
49	chr12:34487800-34488600	Active TSS	K562	blood
50	chr12:34488000-34488400	Flanking Bivalent TSS/Enh	A549	lung

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