Variant report

Variant	nsv455703
Chromosome Location	chr12:103692799-103818049
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:24)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:103745859..103749136-chr12:103750822..103754295,3	MCF-7	breast:
2	chr12:103794502..103795818-chr12:103897463..103898386,6	MCF-7	breast:
3	chr12:103799013..103801250-chr12:103801844..103804662,2	MCF-7	breast:
4	chr12:103342411..103343286-chr12:103719674..103720624,2	MCF-7	breast:
5	chr12:103702824..103705384-chr12:103716372..103718257,2	K562	blood:
6	chr12:103720120..103720695-chr12:103941843..103942723,3	MCF-7	breast:
7	chr12:103790373..103792563-chr12:103796699..103799468,2	K562	blood:
8	chr12:103698904..103701727-chr12:103704570..103706923,2	MCF-7	breast:
9	chr12:103567485..103570052-chr12:103761974..103764560,2	MCF-7	breast:
10	chr12:103719744..103720561-chr12:103897421..103897994,2	MCF-7	breast:
11	chr12:103695455..103698300-chr12:103699189..103701415,2	K562	blood:
12	chr12:103639814..103640778-chr12:103766634..103767396,2	MCF-7	breast:
13	chr12:103771156..103771660-chr4:95383174..95384022,2	MCF-7	breast:
14	chr12:103745859..103749136-chr12:103750822..103754295,3	MCF-7	breast:
15	chr12:103695455..103698300-chr12:103699189..103701415,2	K562	blood:
16	chr12:103795267..103795917-chr12:103941709..103942438,2	MCF-7	breast:
17	chr12:103702824..103705384-chr12:103716372..103718257,2	K562	blood:
18	chr12:103795366..103795878-chr12:103941902..103942845,3	MCF-7	breast:
19	chr12:103643339..103643876-chr12:103766841..103767542,2	MCF-7	breast:
20	chr12:103569035..103569938-chr12:103766846..103767430,3	MCF-7	breast:
21	chr12:103794543..103795432-chr12:103917954..103918672,2	MCF-7	breast:
22	chr12:103698904..103701727-chr12:103704570..103706923,2	MCF-7	breast:
23	chr12:103799013..103801250-chr12:103801844..103804662,2	MCF-7	breast:
24	chr12:103790373..103792563-chr12:103796699..103799468,2	K562	blood:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAH-2	chr12:103762665-103762776	NR_103526
2	lnc-PAH-2	chr12:103762665-103762776	NONHSAT030367
3	lnc-PAH-2	chr12:103795385-103795453	NONHSAT030372
4	lnc-PAH-2	chr12:103795385-103795453	NR_103526
5	lnc-PAH-2	chr12:103795385-103795453	NONHSAT030367
6	lnc-PAH-2	chr12:103790271-103790478	NONHSAT030374
7	lnc-PAH-2	chr12:103795385-103795453	NONHSAT030368
8	lnc-PAH-2	chr12:103762665-103762776	NONHSAT030370
9	lnc-PAH-2	chr12:103795385-103795453	NONHSAT030374
10	lnc-PAH-2	chr12:103742901-103743091	NONHSAT030372
11	lnc-PAH-2	chr12:103795385-103795453	NONHSAT030370
12	lnc-PAH-2	chr12:103762665-103762776	NONHSAT030372
13	lnc-PAH-2	chr12:103795385-103795453	NONHSAT030371
14	lnc-PAH-2	chr12:103762665-103762776	NONHSAT030371
15	lnc-PAH-2	chr12:103762665-103762776	NONHSAT030368
16	lnc-PAH-2	chr12:103791474-103791531	NONHSAT030374
17	lnc-PAH-2	chr12:103699752-103700123	NONHSAT030371
18	lnc-PAH-2	chr12:103761790-103761884	NONHSAT030371

No data

Extended variants
information (count: 4705 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:4705 , 50 per page) page: 1 2 3 4 5 6 7 ... 95

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10778229	chr12:103692799-103692800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10860979	chr12:103692838-103692839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs187597174	chr12:103692844-103692845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566155534	chr12:103692904-103692905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535187358	chr12:103692928-103692929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558646942	chr12:103692938-103692939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558194121	chr12:103692946-103692947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs578184636	chr12:103692978-103692979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543875896	chr12:103692989-103692990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190756457	chr12:103693004-103693005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78548361	chr12:103693076-103693077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76251004	chr12:103693108-103693109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150272778	chr12:103693219-103693220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35418007	chr12:103693353-103693354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371104079	chr12:103693369-103693370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76938593	chr12:103693494-103693495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183592604	chr12:103693504-103693505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541566932	chr12:103693526-103693527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562692507	chr12:103693543-103693544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373577934	chr12:103693634-103693635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533051426	chr12:103693636-103693637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188932106	chr12:103693674-103693675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77567060	chr12:103693692-103693693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574692194	chr12:103693789-103693790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113955760	chr12:103693810-103693811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560226365	chr12:103693886-103693887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548824631	chr12:103693944-103693945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs193247519	chr12:103693967-103693968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534940704	chr12:103693970-103693971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527301786	chr12:103693979-103693980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184351423	chr12:103693993-103693994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551940712	chr12:103694003-103694004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572016537	chr12:103694041-103694042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138361530	chr12:103694090-103694091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557648647	chr12:103694101-103694102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75921738	chr12:103694107-103694108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186493452	chr12:103694108-103694109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12322023	chr12:103694212-103694213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35647075	chr12:103694245-103694246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148829170	chr12:103694272-103694273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11111517	chr12:103694312-103694313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs573275097	chr12:103694489-103694490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370257963	chr12:103694497-103694498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373808771	chr12:103694543-103694544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76347383	chr12:103694550-103694551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561797738	chr12:103694572-103694573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7300758	chr12:103694599-103694600	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs78417247	chr12:103694632-103694633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563210944	chr12:103694648-103694649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76813888	chr12:103694685-103694686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	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
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:103686000-103694800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:103694000-103694200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:103694200-103698600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr12:103694400-103696400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:103694800-103695200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:103694800-103695400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:103694800-103695600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:103694800-103697000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:103695000-103695400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:103695000-103695400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr12:103695000-103695800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
12	chr12:103695200-103695600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:103695200-103695800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr12:103695400-103695600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:103695400-103695600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr12:103695400-103695800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr12:103695400-103696200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:103695600-103695800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr12:103695600-103695800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:103695600-103695800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr12:103695600-103696200	Active TSS	H1 Cell Line	embryonic stem cell
22	chr12:103695600-103696200	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr12:103695600-103696400	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr12:103695800-103696000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr12:103695800-103696000	Active TSS	Brain Germinal Matrix	brain
26	chr12:103695800-103696400	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr12:103695800-103696400	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr12:103695800-103696400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:103695800-103696600	Active TSS	H9 Cell Line	embryonic stem cell
30	chr12:103695800-103696600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr12:103695800-103696600	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr12:103695800-103696600	Active TSS	Fetal Brain Female	brain
33	chr12:103695800-103697000	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr12:103696000-103696200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:103696000-103696400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:103696000-103696400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr12:103696000-103696400	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr12:103696200-103696400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:103696200-103696400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:103696200-103696400	Bivalent Enhancer	Brain Hippocampus Middle	brain
41	chr12:103696200-103696400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr12:103696200-103696400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr12:103696200-103696400	ZNF genes & repeats	Spleen	Spleen
44	chr12:103696200-103696600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr12:103696200-103696600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr12:103696200-103696600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
47	chr12:103696200-103696600	Enhancers	Fetal Brain Male	brain
48	chr12:103696200-103696800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:103696400-103696600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr12:103696400-103696600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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