Variant report

Variant	nsv1051335
Chromosome Location	chr12:34464457-34854486
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	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
2	chr12:34191233..34191868-chr12:34777963..34778741,2	MCF-7	breast:
3	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
4	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
5	chr12:34275660..34276572-chr12:34778082..34778680,2	MCF-7	breast:
6	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:
7	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
8	chr1:121483532..121485426-chr12:34844824..34846350,3	K562	blood:
9	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
10	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
11	chr1:121482950..121485225-chr12:34844826..34846345,4	MCF-7	breast:
12	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
13	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
14	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
15	chr12:34844846..34846346-chr19:27730625..27733192,2	K562	blood:
16	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
17	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
18	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
19	chr12:34844822..34846343-chr7:8071587..8073511,2	MCF-7	breast:
20	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
21	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
22	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
23	chr12:34844846..34846346-chr19:27731700..27733247,2	MCF-7	breast:
24	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
25	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
26	chr10:42528102..42529921-chr12:34831375..34832895,2	K562	blood:
27	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
28	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
29	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
30	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
31	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
32	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
33	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
34	chr12:34844825..34846346-chr19:27731692..27733219,2	K562	blood:
35	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
36	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:

No data

Extended variants
information (count: 25700 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:25700 , 50 per page) page: 1 2 3 4 5 6 7 ... 514

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549885135	chr12:34464492-34464493	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73312694	chr12:34464494-34464495	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs192783153	chr12:34464541-34464542	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552650623	chr12:34464547-34464548	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183599116	chr12:34464554-34464555	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550903073	chr12:34464567-34464568	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554785106	chr12:34464581-34464582	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113568836	chr12:34464589-34464590	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144353196	chr12:34464594-34464595	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375613486	chr12:34464617-34464618	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188487469	chr12:34464627-34464628	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536746762	chr12:34464629-34464630	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200564614	chr12:34464635-34464636	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576780851	chr12:34464664-34464665	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569214863	chr12:34464673-34464674	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113430109	chr12:34464687-34464688	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs55866701	chr12:34464688-34464689	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs542029845	chr12:34464732-34464733	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561892033	chr12:34464733-34464734	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530689142	chr12:34464737-34464738	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550868580	chr12:34464743-34464744	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12296241	chr12:34464749-34464750	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs376462297	chr12:34464756-34464757	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540152347	chr12:34464785-34464786	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192224035	chr12:34464804-34464805	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73312697	chr12:34464825-34464826	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs540986232	chr12:34464839-34464840	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570110876	chr12:34464840-34464841	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs57989246	chr12:34464851-34464852	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74074382	chr12:34464859-34464860	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs534827101	chr12:34464887-34464888	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548355508	chr12:34464903-34464904	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12809868	chr12:34464905-34464906	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs148769952	chr12:34464924-34464925	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114429442	chr12:34464932-34464933	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577511766	chr12:34464949-34464950	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184756556	chr12:34464950-34464951	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12810040	chr12:34464956-34464957	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368932265	chr12:34464962-34464963	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113512761	chr12:34464973-34464974	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536549279	chr12:34465015-34465016	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555567337	chr12:34465016-34465017	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142479305	chr12:34465030-34465031	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541647698	chr12:34465040-34465041	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115070488	chr12:34465079-34465080	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564395647	chr12:34465082-34465083	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533120966	chr12:34465088-34465089	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545768290	chr12:34465127-34465128	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74074384	chr12:34465131-34465132	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs528540459	chr12:34465137-34465138	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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:974 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34460200-34512800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:34462200-34465600	Weak transcription	Right Atrium	heart
3	chr12:34462400-34474600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:34463800-34486200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
5	chr12:34464000-34465800	Weak transcription	K562	blood
6	chr12:34464000-34469600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr12:34465200-34466000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
8	chr12:34465800-34467000	Enhancers	K562	blood
9	chr12:34466000-34469000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr12:34468600-34475200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:34470200-34471400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
12	chr12:34472600-34473600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:34473000-34473200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:34473600-34489600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
15	chr12:34474600-34475200	ZNF genes & repeats	Spleen	Spleen
16	chr12:34475400-34475600	ZNF genes & repeats	Fetal Brain Female	brain
17	chr12:34475600-34479400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:34478200-34478400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
19	chr12:34480400-34559800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:34481800-34482200	Active TSS	Primary T cells from cord blood	blood
21	chr12:34484200-34488800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:34486200-34487000	Enhancers	K562	blood
23	chr12:34486400-34487600	Bivalent Enhancer	Placenta	Placenta
24	chr12:34486400-34488000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:34487000-34487800	Weak transcription	K562	blood
26	chr12:34487800-34488000	Bivalent/Poised TSS	A549	lung
27	chr12:34487800-34488600	Active TSS	K562	blood
28	chr12:34488000-34488400	Flanking Bivalent TSS/Enh	A549	lung
29	chr12:34488400-34489000	Bivalent/Poised TSS	A549	lung
30	chr12:34488400-34489200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr12:34488600-34488800	Flanking Active TSS	K562	blood
32	chr12:34488600-34489000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
33	chr12:34488800-34489000	Active TSS	K562	blood
34	chr12:34488800-34490600	Bivalent Enhancer	Placenta	Placenta
35	chr12:34489000-34490600	Flanking Bivalent TSS/Enh	A549	lung
36	chr12:34489000-34490600	Flanking Active TSS	K562	blood
37	chr12:34489800-34490200	Bivalent/Poised TSS	HepG2	liver
38	chr12:34490600-34490800	Enhancers	K562	blood
39	chr12:34490600-34491200	Bivalent Enhancer	A549	lung
40	chr12:34491400-34492600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:34491600-34492200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:34491600-34498400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:34492200-34492400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr12:34492200-34493600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:34492400-34493200	Bivalent Enhancer	A549	lung
46	chr12:34492800-34496000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
47	chr12:34493200-34494200	Flanking Bivalent TSS/Enh	A549	lung
48	chr12:34493800-34494400	Bivalent Enhancer	Placenta	Placenta
49	chr12:34493800-34495000	Flanking Active TSS	K562	blood
50	chr12:34494000-34494400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell

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