Variant report

Variant	nsv557121
Chromosome Location	chr12:4399087-4411804
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:29)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:4393589..4397417-chr12:4408802..4414196,5	K562	blood:
2	chr12:4390281..4392971-chr12:4411655..4413761,2	K562	blood:
3	chr12:4407612..4409677-chr12:4410603..4412759,2	K562	blood:
4	chr12:4402239..4404395-chr12:4405990..4408960,2	K562	blood:
5	chr12:4356913..4358779-chr12:4400758..4402412,2	K562	blood:
6	chr12:4382122..4384197-chr12:4409065..4411706,3	K562	blood:
7	chr12:4395917..4398503-chr12:4411541..4413819,2	K562	blood:
8	chr12:4402239..4404395-chr12:4405990..4408960,2	K562	blood:
9	chr12:4407612..4409677-chr12:4410603..4412759,2	K562	blood:
10	chr12:4402697..4405001-chr12:4413753..4415725,2	K562	blood:
11	chr12:4381923..4384197-chr12:4410206..4412178,2	K562	blood:

No data

(count:29 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	CCND2	hsa-miR-16-5p	chr12:4409795-4409801
2	CCND2	hsa-miR-20a-5p	chr12:4410124-4410150
3	CCND2	hsa-miR-15a-5p	chr12:4410868-4410874
4	CCND2	hsa-miR-302b-3p	chr12:4410142-4410148
5	CCND2	hsa-miR-206	chr12:4410352-4410358
6	CCND2	hsa-miR-15a-5p	chr12:4409795-4409801
7	CCND2	hsa-miR-106b-5p	chr12:4410130-4410150
8	CCND2	hsa-miR-206	chr12:4410338-4410344
9	CCND2	hsa-miR-17-5p	chr12:4410124-4410150
10	CCND2	hsa-let-7a-5p	chr12:4411225-4411231
11	CCND2	hsa-let-7a-5p	chr12:4411158-4411164
12	CCND2	hsa-miR-15a-5p	chr12:4410939-4410946
13	CCND2	hsa-miR-206	chr12:4410128-4410134
14	CCND2	hsa-miR-16-5p	chr12:4409778-4409801
15	CCND2	hsa-let-7b-5p	chr12:4411225-4411231
16	CCND2	hsa-miR-26a-5p	chr12:4410572-4410579
17	CCND2	hsa-miR-16-5p	chr12:4410868-4410874
18	CCND2	hsa-miR-19b-3p	chr12:4410652-4410659
19	CCND2	hsa-miR-15a-5p	chr12:4410925-4410946
20	CCND2	hsa-miR-16-5p	chr12:4410939-4410946
21	CCND2	hsa-miR-17-5p	chr12:4410143-4410149
22	CCND2	hsa-miR-302d-3p	chr12:4410127-4410149
23	CCND2	hsa-miR-106b-5p	chr12:4410143-4410149
24	CCND2	hsa-miR-302b-3p	chr12:4410127-4410149
25	CCND2	hsa-miR-302d-3p	chr12:4410142-4410148
26	CCND2	hsa-miR-20a-5p	chr12:4410143-4410149
27	CCND2	hsa-miR-16-5p	chr12:4410919-4410946
28	CCND2	hsa-miR-19b-3p	chr12:4410637-4410659
29	CCND2	hsa-let-7b-5p	chr12:4411158-4411164

Variant related genes	Relation type
ENSG00000118971	chromatin interactions

Extended variants
information (count: 557 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:557 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3217862	chr12:4399087-4399088	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569116186	chr12:4399095-4399096	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs377511014	chr12:4399110-4399111	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs560391923	chr12:4399137-4399138	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs201771133	chr12:4399163-4399164	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs538346474	chr12:4399194-4399195	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs558258146	chr12:4399197-4399198	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs370585923	chr12:4399241-4399242	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs546007407	chr12:4399301-4399302	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs373025974	chr12:4399359-4399360	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs573087460	chr12:4399363-4399364	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs189951402	chr12:4399372-4399373	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs561730558	chr12:4399410-4399411	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs530377339	chr12:4399436-4399437	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs114657801	chr12:4399438-4399439	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs563803349	chr12:4399461-4399462	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs185446886	chr12:4399466-4399467	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs533381750	chr12:4399481-4399482	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs549937649	chr12:4399485-4399486	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs3217863	chr12:4399496-4399497	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs567093843	chr12:4399538-4399539	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs529601085	chr12:4399593-4399594	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs549365746	chr12:4399654-4399655	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs190367291	chr12:4399667-4399668	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs538211573	chr12:4399677-4399678	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs558319639	chr12:4399732-4399733	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs3217864	chr12:4399739-4399740	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs3217865	chr12:4399742-4399743	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs571749385	chr12:4399752-4399753	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs28664121	chr12:4399783-4399784	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs559306512	chr12:4399785-4399786	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs553120883	chr12:4399789-4399790	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs572908477	chr12:4399798-4399799	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs542107226	chr12:4399828-4399829	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs138358309	chr12:4399829-4399830	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs370416215	chr12:4399838-4399839	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs549432685	chr12:4399886-4399887	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs34800318	chr12:4399899-4399900	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs34430192	chr12:4399917-4399918	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs3217868	chr12:4399918-4399919	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs577310005	chr12:4399933-4399934	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs181730517	chr12:4399938-4399939	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs534824958	chr12:4399964-4399965	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs3217869	chr12:4399970-4399971	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	mRNA abundance disease
45	rs35552757	chr12:4399988-4399989	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs549668954	chr12:4400000-4400001	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs115271819	chr12:4400053-4400054	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs141530827	chr12:4400056-4400057	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs539569980	chr12:4400057-4400058	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs146222703	chr12:4400072-4400073	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Epilepsy	21858020	CNVD
Colorectal cancer	19359472	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4385400-4400000	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
2	chr12:4385400-4404400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
3	chr12:4385600-4400600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr12:4386000-4400000	Genic enhancers	Fetal Stomach	stomach
5	chr12:4386000-4404600	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr12:4386200-4403000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:4386200-4404200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr12:4386200-4404800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
9	chr12:4386600-4400000	Genic enhancers	Fetal Muscle Leg	muscle
10	chr12:4386600-4406800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:4387000-4402600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
12	chr12:4387200-4400000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:4387200-4415200	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr12:4387800-4402400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:4387800-4415200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:4388200-4401000	Genic enhancers	Left Ventricle	heart
17	chr12:4388200-4411200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:4388200-4415200	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr12:4388200-4415200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:4389200-4400800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:4389600-4403200	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:4390000-4399600	Genic enhancers	Fetal Intestine Small	intestine
23	chr12:4390000-4405800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
24	chr12:4390200-4399600	Genic enhancers	Fetal Intestine Large	intestine
25	chr12:4390200-4400000	Genic enhancers	Right Ventricle	heart
26	chr12:4390800-4400200	Strong transcription	Fetal Lung	lung
27	chr12:4391200-4400800	Strong transcription	Pancreas	Pancrea
28	chr12:4393000-4402200	Strong transcription	Aorta	Aorta
29	chr12:4393200-4400000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:4393600-4400000	Weak transcription	Fetal Kidney	kidney
31	chr12:4393600-4404400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr12:4394000-4410200	Weak transcription	Thymus	Thymus
33	chr12:4394200-4400200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:4394200-4404400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:4394400-4399800	Genic enhancers	Fetal Brain Male	brain
36	chr12:4394600-4400200	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:4394600-4401000	Strong transcription	K562	blood
38	chr12:4394800-4400000	Genic enhancers	Spleen	Spleen
39	chr12:4394800-4400400	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr12:4394800-4404200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:4395000-4399800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr12:4395000-4400800	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:4395000-4403800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:4395600-4400200	Enhancers	Right Atrium	heart
45	chr12:4395800-4399600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr12:4396400-4399800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:4396800-4399400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:4396800-4400400	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:4396800-4401200	Genic enhancers	Rectal Smooth Muscle	rectum
50	chr12:4397000-4399400	Genic enhancers	Primary B cells from peripheral blood	blood

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