Variant report

Variant	nsv560050
Chromosome Location	chr12:104531299-104532159
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:609)
CpG islands
(count:122)
Chromatin interactive
region (count:35)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:609 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:104531844-104532097	HepG2	liver:	n/a	n/a
2	ATF2	chr12:104531766-104532062	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr12:104531677-104532104	GM12878	blood:	n/a	n/a
4	ATF3	chr12:104531777-104532351	A549	lung:	n/a	n/a
5	BATF	chr12:104531839-104532100	GM12878	blood:	n/a	n/a
6	BCL3	chr12:104531716-104532463	A549	lung:	n/a	chr12:104532036-104532045 chr12:104532401-104532410 chr12:104532174-104532183
7	BCLAF1	chr12:104531764-104532118	GM12878	blood:	n/a	chr12:104532036-104532045
8	BCLAF1	chr12:104531731-104532209	GM12878	blood:	n/a	chr12:104532036-104532045 chr12:104532174-104532183
9	BCLAF1	chr12:104530703-104531373	GM12878	blood:	n/a	n/a
10	BHLHE40	chr12:104531679-104532329	HepG2	liver:	n/a	n/a
11	BHLHE40	chr12:104531274-104531321	GM12878	blood:	n/a	n/a
12	BHLHE40	chr12:104531812-104532099	GM12878	blood:	n/a	n/a
13	BHLHE40	chr12:104531797-104532337	K562	blood:	n/a	n/a
14	BRCA1	chr12:104531880-104532070	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr12:104531864-104532064	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr12:104532027-104532072	GM12878	blood:	n/a	n/a
17	CBX3	chr12:104531726-104532544	HCT-116	colon:	n/a	n/a
18	CBX3	chr12:104531739-104532735	K562	blood:	n/a	n/a
19	CBX3	chr12:104532099-104532313	K562	blood:	n/a	n/a
20	CCNT2	chr12:104531162-104532555	K562	blood:	n/a	chr12:104531268-104531277
21	CEBPB	chr12:104531828-104532155	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr12:104531877-104532046	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPD	chr12:104531997-104532367	HepG2	liver:	n/a	n/a
24	CEBPD	chr12:104531053-104531540	HepG2	liver:	n/a	n/a
25	CEBPD	chr12:104531596-104531953	HepG2	liver:	n/a	n/a
26	CHD1	chr12:104530868-104532056	GM12878	blood:	n/a	n/a
27	CHD1	chr12:104531530-104531992	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr12:104531776-104532367	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr12:104531081-104531332	GM12878	blood:	n/a	n/a
30	CHD2	chr12:104531768-104532683	K562	blood:	n/a	n/a
31	CHD2	chr12:104531722-104532380	Hela-S3	cervix:	n/a	n/a
32	CHD2	chr12:104531781-104532351	GM12878	blood:	n/a	n/a
33	CHD2	chr12:104531788-104532527	HepG2	liver:	n/a	n/a
34	CREB1	chr12:104531738-104532379	K562	blood:	n/a	n/a
35	CREB1	chr12:104531748-104532073	A549	lung:	n/a	n/a
36	CREB1	chr12:104531759-104532301	GM12878	blood:	n/a	n/a
37	CREB1	chr12:104531728-104532290	HepG2	liver:	n/a	n/a
38	CREB1	chr12:104531062-104532428	A549	lung:	n/a	n/a
39	CREB1	chr12:104531546-104532447	HepG2	liver:	n/a	n/a
40	CREB1	chr12:104531774-104532259	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr12:104531943-104532038	Lung_OC	lung:	n/a	n/a
42	CTCF	chr12:104532000-104532150	AG04449	skin:	n/a	n/a
43	CTCF	chr12:104531115-104531327	GM12878	blood:	n/a	chr12:104531180-104531201
44	CTCF	chr12:104531340-104531490	GM12864	blood:	n/a	n/a
45	CUX1	chr12:104531896-104532005	K562	blood:	n/a	n/a
46	E2F1	chr12:104531652-104532455	Hela-S3	cervix:	n/a	chr12:104532202-104532213
47	E2F4	chr12:104531709-104532398	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr12:104531756-104532096	GM12878	blood:	n/a	n/a
49	E2F4	chr12:104531431-104532511	K562	blood:	n/a	n/a
50	E2F6	chr12:104531428-104532565	Hela-S3	cervix:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:104531891-104531941	SKMC	muscle:	n/a
2	chr12:104531891-104531941	GM06990	blood:	n/a
3	chr12:104532011-104532061	HPAEpiC	pulmonary alveolar:	n/a
4	chr12:104531891-104531941	BJ	skin:	n/a
5	chr12:104531891-104531941	NHDF-neo	bronchial:	n/a
6	chr12:104532011-104532061	AG09309	skin:	n/a
7	chr12:104532011-104532061	HNPCEpiC	eye:	n/a
8	chr12:104531891-104531941	AG04450	lung:	fetal
9	chr12:104532011-104532061	HCT-116	colon:	n/a
10	chr12:104531891-104531941	GM12878	blood:	n/a
11	chr12:104531891-104531941	CMK	blood:	n/a
12	chr12:104532011-104532061	AoSMC	blood vessel:	n/a
13	chr12:104531891-104531941	T-47D	breast:	n/a
14	chr12:104532011-104532061	ovcar-3	ovarian:	n/a
15	chr12:104532011-104532061	SK-N-MC	brain:	n/a
16	chr12:104531891-104531941	ProgFib	skin:	n/a
17	chr12:104532011-104532061	HCPEpiC	choroid plexus:	n/a
18	chr12:104531891-104531941	PFSK-1	brain:	n/a
19	chr12:104531891-104531941	NB4	blood:	n/a
20	chr12:104531891-104531941	HMEC	breast:	n/a
21	chr12:104531891-104531941	Caco-2	colon:	n/a
22	chr12:104532011-104532061	Jurkat	blood:	n/a
23	chr12:104532011-104532061	H1-hESC	embryonic stem cell:	embryo
24	chr12:104532011-104532061	BE2_C	brain:	n/a
25	chr12:104531891-104531941	LNCaP	prostate:	n/a
26	chr12:104531891-104531941	ECC-1	luminal epithelium:	n/a
27	chr12:104532011-104532061	U87	brain:	n/a
28	chr12:104531891-104531941	GM12891	blood:	n/a
29	chr12:104532011-104532061	GM12878	blood:	n/a
30	chr12:104532011-104532061	ProgFib	skin:	n/a
31	chr12:104532011-104532061	GM06990	blood:	n/a
32	chr12:104532011-104532061	HepG2	liver:	n/a
33	chr12:104531891-104531941	SAEC	small airway:	n/a
34	chr12:104532011-104532061	HAEpiC	amniotic membrane:	n/a
35	chr12:104532011-104532061	NB4	blood:	n/a
36	chr12:104531891-104531941	PANC-1	pancreas:	n/a
37	chr12:104532011-104532061	SK-N-SH_RA	brain:	n/a
38	chr12:104532011-104532061	PANC-1	pancreas:	n/a
39	chr12:104531891-104531941	A549	lung:	n/a
40	chr12:104531891-104531941	HUVEC	blood vessel:	n/a
41	chr12:104532011-104532061	MCF-7	breast:	n/a
42	chr12:104532011-104532061	A549	lung:	n/a
43	chr12:104532011-104532061	IMR90	lung:	fetal
44	chr12:104531891-104531941	HEK293	kidney:	embryo
45	chr12:104532011-104532061	GM12892	blood:	n/a
46	chr12:104531891-104531941	HCT-116	colon:	n/a
47	chr12:104531891-104531941	ovcar-3	ovarian:	n/a
48	chr12:104532011-104532061	CMK	blood:	n/a
49	chr12:104532011-104532061	NHDF-neo	bronchial:	n/a
50	chr12:104531891-104531941	BE2_C	brain:	n/a

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104529689..104531446-chr12:104719514..104721289,2	K562	blood:
2	chr12:104234047..104236214-chr12:104531313..104532962,2	MCF-7	breast:
3	chr12:104481200..104483346-chr12:104529918..104531545,2	K562	blood:
4	chr12:104455182..104458865-chr12:104529769..104532559,3	MCF-7	breast:
5	chr12:104531360..104532346-chr4:185395679..185396224,2	Hela-S3	cervix:
6	chr12:104531343..104532062-chr14:24036745..24037302,2	HCT-116	colon:
7	chr12:104530782..104534411-chr12:104679881..104682289,3	K562	blood:
8	chr12:104529986..104533486-chr12:104678703..104682517,5	MCF-7	breast:
9	chr12:104490343..104492832-chr12:104530682..104533569,2	MCF-7	breast:
10	chr12:104530514..104533012-chr12:104679009..104681675,2	K562	blood:
11	chr12:104531449..104532221-chr9:72873633..72874142,2	Hela-S3	cervix:
12	chr12:104357850..104359549-chr12:104531019..104533949,2	K562	blood:
13	chr12:72079541..72080318-chr12:104531306..104531990,2	NB4	blood:
14	chr12:104530672..104533179-chr6:154830934..154833113,2	MCF-7	breast:
15	chr1:154946283..154947051-chr12:104531811..104532400,2	Hela-S3	cervix:
16	chr12:104531363..104532174-chr20:25228138..25229130,2	NB4	blood:
17	chr12:104322684..104325586-chr12:104530441..104532019,2	K562	blood:
18	chr12:104530239..104532383-chr12:105499797..105502736,2	MCF-7	breast:
19	chr12:104358049..104359986-chr12:104530882..104532737,3	K562	blood:
20	chr1:167905681..167906352-chr12:104531146..104532073,2	Hela-S3	cervix:
21	chr12:104529888..104531745-chr12:104641591..104644080,2	MCF-7	breast:
22	chr12:104456335..104459744-chr12:104529847..104533076,5	K562	blood:
23	chr12:104456193..104459744-chr12:104529847..104533076,6	K562	blood:
24	chr12:104356409..104362053-chr12:104528975..104533138,7	MCF-7	breast:
25	chr12:104531440..104533678-chr17:57914653..57916695,2	MCF-7	breast:
26	chr12:104530438..104533662-chr12:104564030..104567253,5	K562	blood:
27	chr12:104487179..104490226-chr12:104527814..104531447,3	K562	blood:
28	chr12:104528672..104531458-chr12:104545242..104548166,3	K562	blood:
29	chr12:104510515..104519727-chr12:104525085..104533754,15	MCF-7	breast:
30	chr12:104531384..104532055-chr2:26568058..26568772,2	Hela-S3	cervix:
31	chr12:104528832..104532197-chr12:105351511..105353407,3	MCF-7	breast:
32	chr12:104530429..104534144-chr12:104679811..104684673,6	MCF-7	breast:
33	chr12:104531573..104532274-chr3:49058505..49059412,2	Hela-S3	cervix:
34	chr12:104528672..104531458-chr12:104545242..104548166,2	K562	blood:
35	chr12:104348297..104351124-chr12:104530392..104533056,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GLT8D2-1	chr12:104531919-104532040	NONHSAT030410

No data

Variant related genes	Relation type
NFYB	TF binding region
NFYB	CpG island
ENSG00000100994	chromatin interactions
ENSG00000139372	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000271646	chromatin interactions
ENSG00000214198	chromatin interactions
ENSG00000136051	chromatin interactions
ENSG00000136052	chromatin interactions
ENSG00000166598	chromatin interactions
ENSG00000257193	chromatin interactions
ENSG00000198887	chromatin interactions
ENSG00000143158	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000168310	chromatin interactions
ENSG00000268364	chromatin interactions
ENSG00000153721	chromatin interactions
ENSG00000213983	chromatin interactions
ENSG00000257327	chromatin interactions
ENSG00000257999	chromatin interactions
ENSG00000199415	chromatin interactions
ENSG00000111727	chromatin interactions
ENSG00000173567	chromatin interactions
ENSG00000265072	chromatin interactions
ENSG00000111696	chromatin interactions
ENSG00000198431	chromatin interactions
ENSG00000120820	chromatin interactions
ENSG00000143164	chromatin interactions
ENSG00000204954	chromatin interactions
ENSG00000139291	chromatin interactions
ENSG00000160691	chromatin interactions
ENSG00000178149	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549174861	chr12:104531314-104531315	Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
2	rs565669947	chr12:104531328-104531329	Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
3	rs528177746	chr12:104531409-104531410	Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
4	rs551134855	chr12:104531447-104531448	Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
5	rs571224022	chr12:104531490-104531491	Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
6	rs536608624	chr12:104531607-104531608	Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
7	rs557246408	chr12:104531610-104531611	Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
8	rs567590627	chr12:104531686-104531687	Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
9	rs375472843	chr12:104531775-104531776	Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
10	rs553517345	chr12:104531818-104531819	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
11	rs376667886	chr12:104531958-104531959	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	31 gene(s)	Overlapped CNVs	n/a
12	rs548682471	chr12:104532131-104532132	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
13	rs12298853	chr12:104532159-104532160	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104529200-104532400	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr12:104529600-104532400	Active TSS	NHLF	lung
3	chr12:104529800-104532200	Active TSS	Right Atrium	heart
4	chr12:104530000-104532200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:104530000-104532400	Active TSS	NHDF-Ad	bronchial
6	chr12:104530000-104532800	Active TSS	Aorta	Aorta
7	chr12:104530200-104531400	Active TSS	GM12878-XiMat	blood
8	chr12:104530200-104532200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:104530200-104532200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:104530200-104532200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:104530200-104532400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:104530200-104532400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr12:104530200-104532400	Active TSS	HSMMtube	muscle
14	chr12:104530200-104532800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:104530200-104533200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr12:104530400-104532200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:104530400-104532200	Active TSS	Fetal Muscle Trunk	muscle
18	chr12:104530400-104532200	Active TSS	Right Ventricle	heart
19	chr12:104530400-104532400	Active TSS	Left Ventricle	heart
20	chr12:104530400-104532600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:104530400-104532800	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr12:104530400-104533000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr12:104530600-104531400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr12:104530600-104531800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:104530600-104532200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:104530600-104532200	Active TSS	Colonic Mucosa	Colon
27	chr12:104530600-104532200	Active TSS	Fetal Intestine Large	intestine
28	chr12:104530600-104532200	Active TSS	Fetal Thymus	thymus
29	chr12:104530600-104532400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:104530600-104532400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:104530600-104532400	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr12:104530600-104532600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:104530600-104532600	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr12:104530600-104532600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:104530600-104532800	Active TSS	Psoas Muscle	Psoas
36	chr12:104530800-104531400	Active TSS	Colon Smooth Muscle	Colon
37	chr12:104530800-104532200	Active TSS	H1 Cell Line	embryonic stem cell
38	chr12:104530800-104532200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:104530800-104532200	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr12:104530800-104532200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:104530800-104532200	Active TSS	Fetal Intestine Small	intestine
42	chr12:104530800-104532200	Active TSS	Fetal Stomach	stomach
43	chr12:104530800-104532200	Active TSS	Pancreas	Pancrea
44	chr12:104530800-104532200	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr12:104530800-104532200	Active TSS	Stomach Smooth Muscle	stomach
46	chr12:104530800-104532200	Active TSS	HepG2	liver
47	chr12:104530800-104532200	Active TSS	HMEC	breast
48	chr12:104530800-104532400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:104530800-104532400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:104530800-104532400	Active TSS	Esophagus	oesophagus

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