Variant report

Variant	nsv832474
Chromosome Location	chr12:84634858-84800423
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr12:84666195-84666238	K562	blood:	n/a	n/a
2	BACH1	chr12:84703758-84703952	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr12:84760808-84760827	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr12:84735640-84735903	K562	blood:	n/a	chr12:84735771-84735782
5	CEBPB	chr12:84735626-84735910	Hela-S3	cervix:	n/a	chr12:84735771-84735782
6	CEBPB	chr12:84735633-84735950	HepG2	liver:	n/a	chr12:84735771-84735782
7	CEBPB	chr12:84754178-84754417	Hela-S3	cervix:	n/a	chr12:84754301-84754312
8	CEBPB	chr12:84773850-84774062	K562	blood:	n/a	chr12:84773956-84773967
9	CEBPB	chr12:84773812-84774129	HepG2	liver:	n/a	chr12:84773956-84773967
10	CEBPB	chr12:84783579-84783909	HepG2	liver:	n/a	chr12:84783756-84783767
11	CEBPB	chr12:84773957-84774038	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr12:84705099-84705356	HepG2	liver:	n/a	n/a
13	CEBPB	chr12:84754179-84754409	HepG2	liver:	n/a	chr12:84754301-84754312
14	CEBPB	chr12:84773793-84774149	IMR90	lung:	n/a	chr12:84773956-84773967
15	CEBPB	chr12:84773813-84774129	A549	lung:	n/a	chr12:84773956-84773967
16	CEBPB	chr12:84735646-84735920	A549	lung:	n/a	chr12:84735771-84735782
17	CEBPB	chr12:84735587-84735953	IMR90	lung:	n/a	chr12:84735771-84735782
18	CEBPB	chr12:84735641-84735936	H1-hESC	embryonic stem cell:	n/a	chr12:84735771-84735782
19	CEBPB	chr12:84760167-84760367	K562	blood:	n/a	chr12:84760300-84760313 chr12:84760328-84760337 chr12:84760167-84760180 chr12:84760326-84760339 chr12:84760326-84760337 chr12:84760326-84760339
20	CHD2	chr12:84752859-84752895	HepG2	liver:	n/a	n/a
21	CTCF	chr12:84791180-84791330	HMEC	breast:	n/a	chr12:84791277-84791284 chr12:84791271-84791287 chr12:84791265-84791286 chr12:84791270-84791288
22	CTCF	chr12:84791440-84791590	HCM	heart:	n/a	n/a
23	CTCF	chr12:84791080-84791230	HRPEpiC	eye:	n/a	n/a
24	CTCF	chr12:84791191-84791397	Medullo	brain:	n/a	chr12:84791277-84791284 chr12:84791271-84791287 chr12:84791265-84791286 chr12:84791270-84791288
25	CTCF	chr12:84791200-84791350	HUVEC	blood vessel:	n/a	chr12:84791277-84791284 chr12:84791271-84791287 chr12:84791265-84791286 chr12:84791270-84791288
26	CTCF	chr12:84791180-84791330	AG04449	skin:	n/a	chr12:84791277-84791284 chr12:84791271-84791287 chr12:84791265-84791286 chr12:84791270-84791288
27	CTCF	chr12:84791200-84791350	HMEC	breast:	n/a	chr12:84791277-84791284 chr12:84791271-84791287 chr12:84791265-84791286 chr12:84791270-84791288
28	CTCF	chr12:84791200-84791350	HPAF	blood vessel:	n/a	chr12:84791277-84791284 chr12:84791271-84791287 chr12:84791265-84791286 chr12:84791270-84791288
29	CTCF	chr12:84791220-84791370	AG10803	skin:	n/a	chr12:84791277-84791284 chr12:84791271-84791287 chr12:84791265-84791286 chr12:84791270-84791288
30	CTCF	chr12:84755584-84755683	H1-hESC	embryonic stem cell:	n/a	chr12:84755640-84755653
31	CTCF	chr12:84703841-84703893	ProgFib	skin:	n/a	n/a
32	CTCF	chr12:84791180-84791330	HCM	heart:	n/a	chr12:84791277-84791284 chr12:84791271-84791287 chr12:84791265-84791286 chr12:84791270-84791288
33	CTCF	chr12:84791220-84791370	NHDF-neo	bronchial:	n/a	chr12:84791277-84791284 chr12:84791271-84791287 chr12:84791265-84791286 chr12:84791270-84791288
34	CTCF	chr12:84673641-84673724	GM13976	blood:	n/a	n/a
35	CTCF	chr12:84791220-84791370	AG04449	skin:	n/a	chr12:84791277-84791284 chr12:84791271-84791287 chr12:84791265-84791286 chr12:84791270-84791288
36	CTCF	chr12:84791160-84791310	SAEC	small airway:	n/a	chr12:84791277-84791284 chr12:84791271-84791287 chr12:84791265-84791286 chr12:84791270-84791288
37	CTCF	chr12:84791100-84791250	HA-sp	spinal cord:	n/a	n/a
38	CTCF	chr12:84703860-84704010	NHEK	skin:	n/a	n/a
39	CTCF	chr12:84791254-84791348	Hela-S3	cervix:	n/a	chr12:84791277-84791284 chr12:84791271-84791287 chr12:84791265-84791286 chr12:84791270-84791288
40	CTCF	chr12:84791200-84791350	AG10803	skin:	n/a	chr12:84791277-84791284 chr12:84791271-84791287 chr12:84791265-84791286 chr12:84791270-84791288
41	CTCF	chr12:84791340-84791490	HCM	heart:	n/a	n/a
42	CTCF	chr12:84762767-84762819	LNCaP	prostate:	n/a	n/a
43	CTCF	chr12:84791240-84791390	AG09309	skin:	n/a	chr12:84791277-84791284 chr12:84791271-84791287 chr12:84791265-84791286 chr12:84791270-84791288
44	CTCF	chr12:84791198-84791352	LNCaP	prostate:	n/a	chr12:84791277-84791284 chr12:84791271-84791287 chr12:84791265-84791286 chr12:84791270-84791288
45	CTCF	chr12:84791200-84791350	Hela-S3	cervix:	n/a	chr12:84791277-84791284 chr12:84791271-84791287 chr12:84791265-84791286 chr12:84791270-84791288
46	CTCF	chr12:84739454-84739538	GM13976	blood:	n/a	n/a
47	CTCF	chr12:84791158-84791303	SK-N-SH_RA	brain:	n/a	chr12:84791277-84791284 chr12:84791271-84791287 chr12:84791265-84791286 chr12:84791270-84791288
48	CTCF	chr12:84791080-84791370	NHDF-neo	bronchial:	n/a	chr12:84791277-84791284 chr12:84791271-84791287 chr12:84791265-84791286 chr12:84791270-84791288
49	CTCF	chr12:84749169-84749203	Lung_OC	lung:	n/a	n/a
50	CTCF	chr12:84789295-84789368	Pancreas_OC	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:84219094..84220507-chr12:84790896..84791617,3	MCF-7	breast:
2	chr12:84219617..84220155-chr12:84790822..84791366,2	MCF-7	breast:
3	chr12:84677376..84680215-chr12:84681765..84683893,2	K562	blood:
4	chr12:84754965..84757723-chr12:84759689..84762304,2	MCF-7	breast:
5	chr12:84754965..84757723-chr12:84759689..84762304,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRIQ1-2	chr12:84688089-84688341	ENSG00000257729
2	lnc-LRRIQ1-2	chr12:84665119-84665185	ENSG00000257729
3	lnc-LRRIQ1-2	chr12:84687707-84687920	ENSG00000257729
4	lnc-LRRIQ1-2	chr12:84678170-84678273	ENSG00000257729
5	lnc-LRRIQ1-2	chr12:84688089-84688335	ENSG00000257729

Variant related genes	Relation type
ENSG00000257729	TF binding region
ENSG00000257729	chromatin interactions

Extended variants
information (count: 1813 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1813 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190869602	chr12:84653808-84653809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559050446	chr12:84653810-84653811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529617085	chr12:84653823-84653824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547800749	chr12:84653899-84653900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569575781	chr12:84653900-84653901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114106864	chr12:84653942-84653943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552232756	chr12:84653972-84653973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145835730	chr12:84653975-84653976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543056722	chr12:84654000-84654001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534547740	chr12:84654040-84654041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12581030	chr12:84654043-84654044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs34227250	chr12:84654071-84654072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs536613775	chr12:84654075-84654076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555011841	chr12:84654134-84654135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12319014	chr12:84654150-84654151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs544086578	chr12:84654155-84654156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201964225	chr12:84654165-84654166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74201808	chr12:84654169-84654170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529089970	chr12:84654173-84654174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12320466	chr12:84654175-84654176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577346379	chr12:84654177-84654178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376419352	chr12:84654191-84654192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541131820	chr12:84654193-84654194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200194120	chr12:84654194-84654195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201393045	chr12:84654203-84654204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200698352	chr12:84654206-84654207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541289110	chr12:84654273-84654274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183378093	chr12:84654324-84654325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529751384	chr12:84654362-84654363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541380039	chr12:84654364-84654365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11116276	chr12:84654387-84654388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs530462760	chr12:84654413-84654414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11116277	chr12:84654415-84654416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs570680598	chr12:84654419-84654420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186638011	chr12:84654420-84654421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528261387	chr12:84654423-84654424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546831930	chr12:84654428-84654429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11116278	chr12:84654460-84654461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs536747013	chr12:84654465-84654466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371232890	chr12:84654473-84654474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555142636	chr12:84654494-84654495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553400150	chr12:84654497-84654498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs67161882	chr12:84654498-84654499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs386377195	chr12:84654503-84654504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59324636	chr12:84654506-84654507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566290552	chr12:84654519-84654520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7138046	chr12:84654521-84654522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs537078854	chr12:84654525-84654526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559176603	chr12:84654532-84654533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148163280	chr12:84654549-84654550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Wilms tumour	21544195	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
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
Neurodevelopmental disorder	22521361	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
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84653800-84654000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr12:84654000-84655000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:84655000-84655800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr12:84658400-84658800	Enhancers	Fetal Brain Male	brain
5	chr12:84658800-84659200	Weak transcription	Fetal Brain Male	brain
6	chr12:84659200-84659800	Enhancers	Fetal Brain Male	brain
7	chr12:84662200-84664000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:84663800-84664200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
9	chr12:84663800-84664400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
10	chr12:84663800-84665200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr12:84664000-84664200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:84664000-84664400	Enhancers	NHEK	skin
13	chr12:84664000-84664600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr12:84664000-84665400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:84664200-84664400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr12:84664200-84664400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
17	chr12:84664200-84664800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:84664200-84664800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
19	chr12:84664200-84664800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:84664200-84665000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chr12:84664200-84665000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:84664400-84664800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
23	chr12:84664400-84664800	Flanking Active TSS	NHEK	skin
24	chr12:84664400-84665200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:84664600-84664800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
26	chr12:84664600-84664800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr12:84664600-84664800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr12:84664600-84665000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:84664600-84665000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
30	chr12:84664800-84665000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
31	chr12:84664800-84665000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:84664800-84665200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
33	chr12:84664800-84665200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
34	chr12:84664800-84665200	Enhancers	NHEK	skin
35	chr12:84665000-84665200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
36	chr12:84665000-84665200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:84665200-84670000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:84670000-84670200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:84678200-84679000	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr12:84679400-84679800	Enhancers	NHEK	skin
41	chr12:84683800-84684600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:84683800-84685000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:84684000-84684600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:84698800-84699200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:84698800-84699400	Enhancers	Fetal Lung	lung
46	chr12:84698800-84699600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:84706800-84707200	Enhancers	Fetal Lung	lung
48	chr12:84719400-84720400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:84719800-84720200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr12:84720400-84723800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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