Variant report

Variant	esv3421916
Chromosome Location	chr12:121364119-121367217
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121362910..121365338-chr12:121366492..121368266,2	K562	blood:
2	chr12:121341649..121345411-chr12:121362011..121364307,3	MCF-7	breast:
3	chr12:121362910..121365338-chr12:121366492..121368266,2	K562	blood:
4	chr12:121358334..121360953-chr12:121366600..121368597,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157837	chromatin interactions

Extended variants
information (count: 251 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12299452	chr12:121364137-121364138	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116932904	chr12:121364138-121364139	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs140312632	chr12:121364139-121364140	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541915446	chr12:121364152-121364153	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536232218	chr12:121364165-121364166	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs112538829	chr12:121364170-121364171	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs191054767	chr12:121364181-121364182	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569468589	chr12:121364182-121364183	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs116131675	chr12:121364184-121364185	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs7300612	chr12:121364192-121364193	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577772495	chr12:121364201-121364202	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs534064638	chr12:121364204-121364205	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs73224334	chr12:121364252-121364253	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs376987692	chr12:121364254-121364255	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs573724833	chr12:121364258-121364259	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs557968284	chr12:121364266-121364267	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs577898113	chr12:121364267-121364268	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs372543899	chr12:121364301-121364302	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs576279076	chr12:121364302-121364303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs73224335	chr12:121364323-121364324	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs10774577	chr12:121364324-121364325	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs374459603	chr12:121364325-121364326	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs556213941	chr12:121364331-121364332	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs527480986	chr12:121364343-121364344	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs547543157	chr12:121364351-121364352	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs147765389	chr12:121364382-121364383	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs187096579	chr12:121364391-121364392	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs112028118	chr12:121364392-121364393	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs569588848	chr12:121364401-121364402	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs191528985	chr12:121364418-121364419	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs552039086	chr12:121364420-121364421	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs111821530	chr12:121364460-121364461	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs10849818	chr12:121364503-121364504	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs183508306	chr12:121364504-121364505	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs113406137	chr12:121364505-121364506	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs536722153	chr12:121364539-121364540	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs561808292	chr12:121364540-121364541	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs372093774	chr12:121364582-121364583	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs545023134	chr12:121364583-121364584	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs530749086	chr12:121364602-121364603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558869647	chr12:121364612-121364613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376567268	chr12:121364616-121364617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199634720	chr12:121364623-121364624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200753098	chr12:121364625-121364626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561178916	chr12:121364637-121364638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561039419	chr12:121364639-121364640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529756945	chr12:121364648-121364649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187244259	chr12:121364703-121364704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374286924	chr12:121364733-121364734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367696275	chr12:121364736-121364737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121362800-121364400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr12:121362800-121364400	Enhancers	H1 Cell Line	embryonic stem cell
3	chr12:121362800-121364400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:121362800-121364400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:121362800-121364400	Enhancers	Placenta	Placenta
6	chr12:121362800-121364600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:121362800-121364600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:121363000-121364400	Enhancers	Esophagus	oesophagus
9	chr12:121363000-121364400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr12:121363200-121364400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:121363200-121364400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:121363400-121364400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr12:121363400-121364400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr12:121363400-121364400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr12:121363400-121364400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr12:121363400-121364400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:121363400-121364400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:121363400-121364400	Enhancers	HepG2	liver
19	chr12:121363600-121364200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr12:121363600-121364200	Weak transcription	Fetal Thymus	thymus
21	chr12:121363600-121364400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr12:121363600-121364400	Flanking Active TSS	NHEK	skin
23	chr12:121363800-121364200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr12:121363800-121364400	Flanking Active TSS	HMEC	breast
25	chr12:121364000-121364200	Enhancers	Right Atrium	heart
26	chr12:121364000-121364400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:121364000-121366600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:121364200-121364400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr12:121364200-121364600	ZNF genes & repeats	Fetal Thymus	thymus
30	chr12:121364200-121366800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr12:121364400-121364600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:121364400-121364600	Enhancers	NHEK	skin
33	chr12:121364400-121366400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:121364400-121366600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr12:121364400-121366600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:121364400-121366600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:121364400-121366600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:121364400-121366600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr12:121364400-121366600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:121364400-121366600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:121364400-121366600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:121364400-121366600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:121364400-121366600	Weak transcription	Esophagus	oesophagus
44	chr12:121364400-121366600	Weak transcription	Placenta	Placenta
45	chr12:121364400-121366600	Weak transcription	HepG2	liver
46	chr12:121364400-121366600	Weak transcription	HMEC	breast
47	chr12:121364400-121366800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:121364400-121366800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:121364400-121366800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr12:121364400-121374000	Weak transcription	Placenta Amnion	Placenta Amnion

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