Variant report

Variant	esv3370922
Chromosome Location	chr12:121364594-121367142
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	chr12:121362910..121365338-chr12:121366492..121368266,2	K562	blood:
3	chr12:121358334..121360953-chr12:121366600..121368597,2	MCF-7	breast:

Extended variants
information (count: 212 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:212 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530749086	chr12:121364602-121364603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558869647	chr12:121364612-121364613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376567268	chr12:121364616-121364617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199634720	chr12:121364623-121364624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200753098	chr12:121364625-121364626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561178916	chr12:121364637-121364638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561039419	chr12:121364639-121364640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529756945	chr12:121364648-121364649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187244259	chr12:121364703-121364704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374286924	chr12:121364733-121364734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367696275	chr12:121364736-121364737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370073457	chr12:121364742-121364743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375569266	chr12:121364743-121364744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540435094	chr12:121364748-121364749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368564943	chr12:121364749-121364750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372707715	chr12:121364758-121364759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375681455	chr12:121364774-121364775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546266025	chr12:121364776-121364777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563174333	chr12:121364779-121364780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368335683	chr12:121364783-121364784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28660579	chr12:121364784-121364785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371640539	chr12:121364786-121364787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28657639	chr12:121364790-121364791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28665617	chr12:121364802-121364803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190050631	chr12:121364807-121364808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28449702	chr12:121364809-121364810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550831730	chr12:121364820-121364821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28766966	chr12:121364827-121364828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28759415	chr12:121364843-121364844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28816791	chr12:121364844-121364845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28799645	chr12:121364853-121364854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28766972	chr12:121364862-121364863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28871032	chr12:121364866-121364867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377085370	chr12:121364917-121364918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551812106	chr12:121364926-121364927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368151998	chr12:121364940-121364941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571592770	chr12:121364963-121364964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372183180	chr12:121364971-121364972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375131908	chr12:121365002-121365003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527944755	chr12:121365008-121365009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182327117	chr12:121365013-121365014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186750790	chr12:121365041-121365042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547605719	chr12:121365068-121365069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193298609	chr12:121365069-121365070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536387543	chr12:121365095-121365096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185467042	chr12:121365100-121365101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574990261	chr12:121365143-121365144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577454318	chr12:121365166-121365167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188795149	chr12:121365198-121365199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576406094	chr12:121365212-121365213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121362800-121364600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:121362800-121364600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:121364000-121366600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:121364200-121364600	ZNF genes & repeats	Fetal Thymus	thymus
5	chr12:121364200-121366800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:121364400-121364600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:121364400-121364600	Enhancers	NHEK	skin
8	chr12:121364400-121366400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:121364400-121366600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:121364400-121366600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:121364400-121366600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:121364400-121366600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:121364400-121366600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:121364400-121366600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:121364400-121366600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:121364400-121366600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:121364400-121366600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:121364400-121366600	Weak transcription	Esophagus	oesophagus
19	chr12:121364400-121366600	Weak transcription	Placenta	Placenta
20	chr12:121364400-121366600	Weak transcription	HepG2	liver
21	chr12:121364400-121366600	Weak transcription	HMEC	breast
22	chr12:121364400-121366800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:121364400-121366800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:121364400-121366800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:121364400-121374000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:121364600-121366600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:121364600-121366600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:121364600-121366600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:121364600-121366600	Weak transcription	Fetal Thymus	thymus
30	chr12:121364600-121366600	Weak transcription	NHEK	skin
31	chr12:121366400-121366600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr12:121366600-121366800	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr12:121366600-121366800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:121366600-121366800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr12:121366600-121366800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:121366600-121366800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:121366600-121366800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:121366600-121366800	Enhancers	Esophagus	oesophagus
39	chr12:121366600-121366800	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr12:121366600-121366800	Active TSS	HepG2	liver
41	chr12:121366600-121367000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:121366600-121367000	Enhancers	Fetal Intestine Large	intestine
43	chr12:121366600-121367000	Enhancers	Fetal Thymus	thymus
44	chr12:121366600-121367000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr12:121366600-121367200	Flanking Active TSS	HMEC	breast
46	chr12:121366600-121367400	Enhancers	H1 Cell Line	embryonic stem cell
47	chr12:121366600-121367400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:121366600-121367400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:121366600-121367400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:121366600-121367400	Enhancers	Pancreas	Pancrea

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