Variant report

Variant	esv3417525
Chromosome Location	chr12:122321837-122324560
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:122323200-122323282	IMR90	lung:	n/a	n/a
2	CEBPB	chr12:122321820-122321980	IMR90	lung:	n/a	n/a
3	CEBPB	chr12:122321890-122321927	K562	blood:	n/a	n/a
4	FOS	chr12:122323091-122323359	HUVEC	blood vessel:	n/a	chr12:122323251-122323262
5	FOS	chr12:122323073-122323412	MCF10A-Er-Src	breast:	n/a	chr12:122323251-122323262
6	FOS	chr12:122323075-122323426	MCF10A-Er-Src	breast:	n/a	chr12:122323251-122323262
7	FOS	chr12:122323106-122323392	MCF10A-Er-Src	breast:	n/a	chr12:122323251-122323262
8	FOS	chr12:122323073-122323533	MCF10A-Er-Src	breast:	n/a	chr12:122323251-122323262
9	JUN	chr12:122322997-122323649	K562	blood:	n/a	n/a
10	JUND	chr12:122323164-122323301	K562	blood:	n/a	n/a
11	SRF	chr12:122322062-122322215	GM12878	blood:	n/a	n/a
12	USF1	chr12:122322117-122322193	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122322817-122322867	PANC-1	pancreas:	n/a
2	chr12:122322817-122322867	HPAEpiC	pulmonary alveolar:	n/a
3	chr12:122322817-122322867	K562	blood:	n/a
4	chr12:122322817-122322867	LNCaP	prostate:	n/a
5	chr12:122322817-122322867	SK-N-SH_RA	brain:	n/a
6	chr12:122322817-122322867	NH-A	brain:	n/a
7	chr12:122322817-122322867	ProgFib	skin:	n/a
8	chr12:122322817-122322867	HCT-116	colon:	n/a
9	chr12:122322817-122322867	SKMC	muscle:	n/a
10	chr12:122322817-122322867	NT2-D1	testis:	n/a
11	chr12:122322817-122322867	PrEC	prostate:	n/a
12	chr12:122322817-122322867	SK-N-SH	brain:	n/a
13	chr12:122322817-122322867	GM12878	blood:	n/a
14	chr12:122322817-122322867	Hepatocyte	liver:	n/a
15	chr12:122322817-122322867	NHDF-neo	bronchial:	n/a
16	chr12:122322817-122322867	HMEC	breast:	n/a
17	chr12:122322817-122322867	HRE	kidney:	n/a
18	chr12:122322817-122322867	HepG2	liver:	n/a
19	chr12:122322817-122322867	NHBE	bronchial:	n/a
20	chr12:122322817-122322867	PFSK-1	brain:	n/a
21	chr12:122322817-122322867	Hela-S3	cervix:	n/a
22	chr12:122322817-122322867	ovcar-3	ovarian:	n/a
23	chr12:122322817-122322867	HCPEpiC	choroid plexus:	n/a
24	chr12:122322817-122322867	HNPCEpiC	eye:	n/a
25	chr12:122322817-122322867	HRCEpiC	kidney:	n/a
26	chr12:122322817-122322867	SK-N-MC	brain:	n/a
27	chr12:122322817-122322867	U87	brain:	n/a
28	chr12:122322817-122322867	GM19239	blood:	n/a
29	chr12:122322817-122322867	H1-hESC	embryonic stem cell:	embryo
30	chr12:122322817-122322867	Caco-2	colon:	n/a
31	chr12:122322817-122322867	BJ	skin:	n/a
32	chr12:122322817-122322867	HL-60	blood:	n/a
33	chr12:122322817-122322867	BE2_C	brain:	n/a
34	chr12:122322817-122322867	Jurkat	blood:	n/a
35	chr12:122322817-122322867	GM12892	blood:	n/a
36	chr12:122322817-122322867	HIPEpiC	eye:	n/a
37	chr12:122322817-122322867	AoSMC	blood vessel:	n/a
38	chr12:122322817-122322867	HCF	heart:	n/a
39	chr12:122322817-122322867	A549	lung:	n/a
40	chr12:122322817-122322867	AG10803	skin:	n/a
41	chr12:122322817-122322867	GM06990	blood:	n/a
42	chr12:122322817-122322867	RPTEC	kidney:	n/a
43	chr12:122322817-122322867	IMR90	lung:	fetal
44	chr12:122322817-122322867	CMK	blood:	n/a
45	chr12:122322817-122322867	AG09319	gingival:	n/a
46	chr12:122322817-122322867	HCM	heart:	n/a
47	chr12:122322817-122322867	T-47D	breast:	n/a
48	chr12:122322817-122322867	MCF-7	breast:	n/a
49	chr12:122322817-122322867	NB4	blood:	n/a
50	chr12:122322817-122322867	SAEC	small airway:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122319572..122322353-chr12:122324355..122326595,2	MCF-7	breast:
2	chr12:122231564..122242843-chr12:122324518..122333366,33	K562	blood:
3	chr12:122233107..122235013-chr12:122321542..122323051,2	MCF-7	breast:
4	chr12:122313122..122314664-chr12:122320554..122322412,2	K562	blood:
5	chr12:122321753..122324282-chr12:122324684..122326491,2	K562	blood:
6	chr12:122228999..122246158-chr12:122324401..122342013,93	MCF-7	breast:
7	chr12:122239544..122241081-chr12:122321387..122323397,2	MCF-7	breast:
8	chr12:122319572..122322353-chr12:122324355..122326595,2	MCF-7	breast:
9	chr12:122319850..122323065-chr12:122324628..122326672,4	MCF-7	breast:
10	chr12:122320221..122322912-chr12:122324691..122327698,3	K562	blood:
11	chr12:122228992..122246947-chr12:122322343..122339116,70	MCF-7	breast:
12	chr12:122228836..122242951-chr12:122324438..122335797,34	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256950	TF binding region
PSMD9	TF binding region
ENSG00000256950	CpG island
PSMD9	CpG island
ENSG00000110801	chromatin interactions
ENSG00000212694	chromatin interactions
ENSG00000256950	chromatin interactions
ENSG00000139725	chromatin interactions
ENSG00000139718	chromatin interactions
ENSG00000272849	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569488712	chr12:122321839-122321840	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs184566592	chr12:122321842-122321843	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs79237776	chr12:122321904-122321905	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs371075233	chr12:122321905-122321906	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs554770574	chr12:122321908-122321909	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs372959299	chr12:122321954-122321955	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs563812313	chr12:122321991-122321992	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs71082906	chr12:122322078-122322079	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs398021403	chr12:122322094-122322095	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs573368475	chr12:122322095-122322096	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs540736279	chr12:122322100-122322101	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs552649429	chr12:122322108-122322109	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs528912436	chr12:122322144-122322145	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs143076651	chr12:122322180-122322181	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs187843189	chr12:122322187-122322188	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs563585768	chr12:122322201-122322202	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs575479207	chr12:122322260-122322261	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs146148398	chr12:122322336-122322337	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs201507212	chr12:122322337-122322338	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs528551752	chr12:122322348-122322349	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs542614636	chr12:122322382-122322383	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs114237844	chr12:122322384-122322385	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs565280163	chr12:122322475-122322476	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs34472398	chr12:122322512-122322513	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs76938382	chr12:122322513-122322514	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs397687881	chr12:122322527-122322528	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs532527885	chr12:122322546-122322547	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs528237022	chr12:122322589-122322590	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs569511181	chr12:122322696-122322697	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs536569069	chr12:122322722-122322723	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs142142253	chr12:122322739-122322740	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs566726994	chr12:122322760-122322761	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs534171150	chr12:122322771-122322772	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs201261936	chr12:122322773-122322774	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs553026387	chr12:122322781-122322782	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs73229950	chr12:122322792-122322793	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs191714666	chr12:122322817-122322818	Weak transcription Enhancers	CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs184173176	chr12:122322831-122322832	Weak transcription Enhancers	CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs575573392	chr12:122322839-122322840	Weak transcription Enhancers	CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs370160926	chr12:122322857-122322858	Weak transcription Enhancers	CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs35944287	chr12:122322891-122322892	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs561016324	chr12:122322921-122322922	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs188907078	chr12:122323022-122323023	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs542101507	chr12:122323090-122323091	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs540093731	chr12:122323092-122323093	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs146198917	chr12:122323112-122323113	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs111896899	chr12:122323114-122323115	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs530603440	chr12:122323147-122323148	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs565362719	chr12:122323176-122323177	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs532526803	chr12:122323232-122323233	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	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
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Autism	21865298	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122312000-122322800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:122320400-122322000	Enhancers	K562	blood
3	chr12:122321000-122322000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:122321200-122322000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:122321400-122322000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr12:122321400-122323000	Enhancers	HepG2	liver
7	chr12:122321400-122325800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:122321400-122326000	Weak transcription	Right Atrium	heart
9	chr12:122321400-122326200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:122321400-122326200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:122321800-122323200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:122321800-122325600	Weak transcription	Liver	Liver
13	chr12:122321800-122325600	Weak transcription	Hela-S3	cervix
14	chr12:122321800-122325800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:122321800-122326000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:122322000-122322400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:122322000-122325600	Weak transcription	K562	blood
18	chr12:122322000-122325800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:122322000-122325800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:122322000-122326000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:122322800-122323200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:122323000-122325600	Weak transcription	HepG2	liver
23	chr12:122323200-122323400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr12:122323200-122325800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:122323400-122326000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr12:122324200-122325800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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