Variant report

Variant	nsv469347
Chromosome Location	chr12:32555846-32602079
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:17)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:32552564..32554101-chr12:32601204..32602823,2	MCF-7	breast:
2	chr12:32585117..32587361-chr12:32596940..32599478,2	MCF-7	breast:
3	chr12:32551819..32553534-chr12:32555515..32557617,2	MCF-7	breast:
4	chr12:32585117..32587361-chr12:32596940..32599478,2	MCF-7	breast:
5	chr12:32590578..32592107-chr12:32597792..32599850,2	MCF-7	breast:
6	chr12:32550677..32552488-chr12:32597937..32600847,2	MCF-7	breast:
7	chr12:32580165..32582932-chr12:32583223..32584880,2	K562	blood:
8	chr12:32521160..32523381-chr12:32570318..32572312,2	MCF-7	breast:
9	chr12:32590578..32592107-chr12:32597792..32599850,2	MCF-7	breast:
10	chr12:32552514..32555337-chr12:32557035..32560074,3	MCF-7	breast:
11	chr12:32588671..32590721-chr12:32830840..32833559,2	MCF-7	breast:
12	chr12:32551367..32553605-chr12:32570827..32573292,2	MCF-7	breast:
13	chr12:32597976..32599716-chr12:32601227..32603938,2	K562	blood:
14	chr12:32597976..32599716-chr12:32601227..32603938,2	K562	blood:
15	chr12:32550694..32554059-chr12:32587426..32590293,5	MCF-7	breast:
16	chr12:32534188..32536796-chr12:32561079..32564068,2	MCF-7	breast:
17	chr12:32580165..32582932-chr12:32583223..32584880,2	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BICD1-3	chr12:32558027-32558182	NONHSAT027612
2	lnc-BICD1-3	chr12:32557462-32557481	NONHSAT027612
3	lnc-BICD1-3	chr12:32557113-32557450	NONHSAT027612
4	lnc-BICD1-3	chr12:32564376-32564483	NONHSAT027612
5	lnc-BICD1-3	chr12:32572878-32573361	NONHSAT027612
6	lnc-BICD1-3	chr12:32590791-32591274	NONHSAT027612
7	lnc-BICD1-3	chr12:32586545-32587362	NONHSAT027612
8	lnc-BICD1-3	chr12:32573758-32574475	NONHSAT027612
9	lnc-BICD1-3	chr12:32560576-32560852	NONHSAT027612
10	lnc-BICD1-3	chr12:32583267-32583630	NONHSAT027612

No data

Variant related genes	Relation type
ENSG00000139132	chromatin interactions
ENSG00000087470	chromatin interactions

Extended variants
information (count: 1721 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1721 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6488053	chr12:32555846-32555847	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs374153787	chr12:32555871-32555872	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs56149636	chr12:32555883-32555884	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs186772534	chr12:32555906-32555907	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs553001558	chr12:32555908-32555909	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs138923058	chr12:32555910-32555911	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs191193222	chr12:32555943-32555944	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs535371694	chr12:32556013-32556014	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs555554532	chr12:32556053-32556054	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs10545601	chr12:32556055-32556056	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs575320298	chr12:32556075-32556076	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs12811700	chr12:32556116-32556117	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs564202436	chr12:32556133-32556134	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs2931554	chr12:32556162-32556163	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs185861195	chr12:32556165-32556166	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560262916	chr12:32556183-32556184	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs529624338	chr12:32556216-32556217	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs549375957	chr12:32556227-32556228	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs563118247	chr12:32556295-32556296	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs79608711	chr12:32556368-32556369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs550703300	chr12:32556390-32556391	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs570607688	chr12:32556408-32556409	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs147434394	chr12:32556456-32556457	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs546654314	chr12:32556486-32556487	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs566312393	chr12:32556519-32556520	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs118039165	chr12:32556520-32556521	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113831633	chr12:32556536-32556537	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs555329042	chr12:32556539-32556540	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs79812154	chr12:32556547-32556548	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs570603976	chr12:32556561-32556562	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs188726492	chr12:32556589-32556590	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs193211146	chr12:32556675-32556676	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12579437	chr12:32556689-32556690	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs577740947	chr12:32556712-32556713	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540312293	chr12:32556720-32556721	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554150034	chr12:32556745-32556746	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs185175187	chr12:32556776-32556777	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs143941753	chr12:32556780-32556781	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs2455004	chr12:32556817-32556818	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs188942304	chr12:32556818-32556819	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs545646199	chr12:32556824-32556825	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs565463845	chr12:32556825-32556826	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs533077098	chr12:32556911-32556912	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs2651377	chr12:32556919-32556920	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs566467643	chr12:32556932-32556933	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs528845481	chr12:32556971-32556972	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs2062600	chr12:32556989-32556990	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs202093930	chr12:32557020-32557021	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs569319266	chr12:32557021-32557022	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs397776385	chr12:32557032-32557033	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	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	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:887 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32553400-32572200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:32553400-32572200	Weak transcription	HSMMtube	muscle
3	chr12:32553400-32572400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:32553600-32556000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:32553600-32572600	Weak transcription	Esophagus	oesophagus
6	chr12:32553800-32556000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:32553800-32571600	Weak transcription	Left Ventricle	heart
8	chr12:32554000-32572200	Weak transcription	Right Ventricle	heart
9	chr12:32554200-32556000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:32554200-32556000	Enhancers	NHEK	skin
11	chr12:32554200-32559600	Weak transcription	A549	lung
12	chr12:32554200-32561200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:32554200-32566400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:32554200-32571800	Weak transcription	Ovary	ovary
15	chr12:32554200-32573800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:32554400-32556800	Weak transcription	Colonic Mucosa	Colon
17	chr12:32554400-32559800	Weak transcription	Psoas Muscle	Psoas
18	chr12:32554600-32556000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:32554600-32556200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:32554600-32557000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr12:32554600-32572400	Weak transcription	Fetal Intestine Large	intestine
22	chr12:32554600-32593200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:32554800-32556000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr12:32554800-32556200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:32554800-32556800	Weak transcription	Liver	Liver
26	chr12:32555000-32556000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:32555200-32556400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:32555200-32556400	Enhancers	HMEC	breast
29	chr12:32555200-32556600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr12:32555200-32556600	Enhancers	Stomach Mucosa	stomach
31	chr12:32555200-32557200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr12:32555200-32557600	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr12:32555200-32557600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:32555400-32556400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
35	chr12:32555400-32556400	Enhancers	Fetal Intestine Small	intestine
36	chr12:32555400-32556600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:32555400-32558400	Weak transcription	Gastric	stomach
38	chr12:32555400-32571400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:32555400-32572000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr12:32555600-32556000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr12:32555600-32556200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:32555600-32556200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr12:32555600-32556600	Weak transcription	Pancreas	Pancrea
44	chr12:32555600-32556600	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr12:32555600-32557600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
46	chr12:32555600-32558600	Weak transcription	Adipose Nuclei	Adipose
47	chr12:32555600-32571400	Weak transcription	Lung	lung
48	chr12:32555800-32556000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:32555800-32556400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
50	chr12:32555800-32556400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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