Variant report

Variant	esv2762208
Chromosome Location	chr1:194660159-194684743
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	ARID3A	chr1:194668067-194668506	K562	blood:	n/a	n/a
2	ARID3A	chr1:194667692-194667731	K562	blood:	n/a	n/a
3	ATF1	chr1:194668119-194668497	K562	blood:	n/a	n/a
4	ATF1	chr1:194662702-194662856	K562	blood:	n/a	n/a
5	BHLHE40	chr1:194668203-194668522	K562	blood:	n/a	n/a
6	BHLHE40	chr1:194680352-194680402	K562	blood:	n/a	n/a
7	CBX3	chr1:194667984-194668547	K562	blood:	n/a	n/a
8	CCNT2	chr1:194664494-194664648	K562	blood:	n/a	n/a
9	CEBPB	chr1:194674230-194674626	IMR90	lung:	n/a	chr1:194674409-194674420 chr1:194674319-194674330
10	CEBPB	chr1:194683156-194683864	K562	blood:	n/a	chr1:194683707-194683718 chr1:194683709-194683720
11	CEBPB	chr1:194662389-194662763	IMR90	lung:	n/a	chr1:194662566-194662577 chr1:194662729-194662742 chr1:194662568-194662577 chr1:194662568-194662577 chr1:194662568-194662577 chr1:194662568-194662577 chr1:194662566-194662579 chr1:194662568-194662579
12	CEBPB	chr1:194676213-194676501	HepG2	liver:	n/a	n/a
13	CEBPB	chr1:194676232-194676520	K562	blood:	n/a	n/a
14	CEBPB	chr1:194662459-194662683	H1-hESC	embryonic stem cell:	n/a	chr1:194662566-194662577 chr1:194662568-194662577 chr1:194662568-194662577 chr1:194662568-194662577 chr1:194662568-194662577 chr1:194662566-194662579 chr1:194662568-194662579
15	CEBPB	chr1:194678290-194678603	K562	blood:	n/a	chr1:194678451-194678462
16	CEBPB	chr1:194683164-194683906	HepG2	liver:	n/a	chr1:194683707-194683718 chr1:194683709-194683720
17	CEBPB	chr1:194683205-194683886	A549	lung:	n/a	chr1:194683707-194683718 chr1:194683709-194683720
18	CEBPB	chr1:194678284-194678632	HepG2	liver:	n/a	chr1:194678451-194678462
19	CEBPB	chr1:194662383-194662752	K562	blood:	n/a	chr1:194662566-194662577 chr1:194662729-194662742 chr1:194662568-194662577 chr1:194662568-194662577 chr1:194662568-194662577 chr1:194662568-194662577 chr1:194662566-194662579 chr1:194662568-194662579
20	CEBPB	chr1:194674226-194674612	Hela-S3	cervix:	n/a	chr1:194674409-194674420 chr1:194674319-194674330
21	CEBPB	chr1:194683147-194683890	IMR90	lung:	n/a	chr1:194683707-194683718 chr1:194683709-194683720
22	CEBPB	chr1:194667942-194668437	K562	blood:	n/a	n/a
23	CEBPB	chr1:194662419-194662746	A549	lung:	n/a	chr1:194662566-194662577 chr1:194662729-194662742 chr1:194662568-194662577 chr1:194662568-194662577 chr1:194662568-194662577 chr1:194662568-194662577 chr1:194662566-194662579 chr1:194662568-194662579
24	CEBPB	chr1:194678359-194678615	H1-hESC	embryonic stem cell:	n/a	chr1:194678451-194678462
25	CEBPB	chr1:194662414-194662743	HepG2	liver:	n/a	chr1:194662566-194662577 chr1:194662729-194662742 chr1:194662568-194662577 chr1:194662568-194662577 chr1:194662568-194662577 chr1:194662568-194662577 chr1:194662566-194662579 chr1:194662568-194662579
26	CEBPB	chr1:194676203-194676550	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr1:194674297-194674533	HepG2	liver:	n/a	chr1:194674409-194674420 chr1:194674319-194674330
28	CEBPB	chr1:194676246-194676409	K562	blood:	n/a	n/a
29	CEBPD	chr1:194668045-194668573	K562	blood:	n/a	n/a
30	CEBPD	chr1:194668061-194668553	K562	blood:	n/a	n/a
31	CTCF	chr1:194668277-194668506	K562	blood:	n/a	n/a
32	CTCF	chr1:194668300-194668496	K562	blood:	n/a	n/a
33	CTCF	chr1:194678158-194678165	K562	blood:	n/a	n/a
34	CTCF	chr1:194666033-194666060	GM10266	blood:	n/a	n/a
35	CTCF	chr1:194668148-194668541	K562	blood:	n/a	n/a
36	CTCF	chr1:194668320-194668470	K562	blood:	n/a	n/a
37	CTCF	chr1:194668220-194668370	BE2_C	brain:	n/a	n/a
38	CTCF	chr1:194668248-194668441	GM12878	blood:	n/a	n/a
39	CTCF	chr1:194668360-194668510	BE2_C	brain:	n/a	n/a
40	CTCF	chr1:194668187-194668598	K562	blood:	n/a	n/a
41	CTCF	chr1:194668400-194668550	K562	blood:	n/a	n/a
42	E2F4	chr1:194670324-194670345	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr1:194672995-194673445	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F6	chr1:194668266-194668415	K562	blood:	n/a	n/a
45	EGR1	chr1:194668190-194668441	K562	blood:	n/a	n/a
46	EP300	chr1:194668056-194668524	K562	blood:	n/a	chr1:194668202-194668216
47	EP300	chr1:194676253-194676561	K562	blood:	n/a	n/a
48	FAM48A	chr1:194677829-194677914	GM12878	blood:	n/a	n/a
49	FOS	chr1:194674355-194674633	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr1:194674294-194674631	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:194679059..194680742-chr1:194682290..194685138,2	K562	blood:
2	chr1:194674960..194679319-chr1:194679735..194682692,3	K562	blood:
3	chr1:194665790..194668787-chr1:194669663..194672481,2	K562	blood:
4	chr1:194674960..194679319-chr1:194679735..194682692,3	K562	blood:
5	chr1:194624614..194627443-chr1:194667316..194668924,2	K562	blood:
6	chr1:194666221..194668363-chr1:194676352..194679287,2	K562	blood:
7	chr1:194664202..194668787-chr1:194669381..194672481,4	K562	blood:
8	chr1:194679059..194680742-chr1:194682290..194685138,2	K562	blood:
9	chr1:194665790..194668787-chr1:194669663..194672481,2	K562	blood:
10	chr1:194666221..194668363-chr1:194676352..194679287,2	K562	blood:
11	chr1:194664202..194668787-chr1:194669381..194672481,4	K562	blood:
12	chr1:194681302..194685188-chr1:194688470..194690417,3	K562	blood:

Variant related genes	Relation type
ENSG00000228167	TF binding region

Extended variants
information (count: 500 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12121269	chr1:194667805-194667806	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs367644258	chr1:194667808-194667809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531368101	chr1:194667825-194667826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552174385	chr1:194667903-194667904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571167904	chr1:194667918-194667919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532411590	chr1:194667940-194667941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548136859	chr1:194667960-194667961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12064164	chr1:194668006-194668007	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs76576529	chr1:194668027-194668028	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs386369192	chr1:194668028-194668029	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs386369193	chr1:194668046-194668047	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs58704419	chr1:194668047-194668048	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs566194960	chr1:194668074-194668075	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs112319463	chr1:194668091-194668092	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs34799068	chr1:194668092-194668093	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs570112564	chr1:194668115-194668116	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs555015055	chr1:194668130-194668131	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs570179358	chr1:194668131-194668132	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs537592756	chr1:194668167-194668168	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs552843739	chr1:194668244-194668245	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs543154266	chr1:194668257-194668258	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs557014616	chr1:194668265-194668266	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs577601026	chr1:194668279-194668280	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs143657772	chr1:194668411-194668412	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs182293151	chr1:194668427-194668428	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs553465703	chr1:194668430-194668431	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs372260148	chr1:194668439-194668440	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs375888431	chr1:194668460-194668461	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs572139486	chr1:194668464-194668465	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs142627568	chr1:194668489-194668490	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs561010440	chr1:194668544-194668545	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs575841753	chr1:194668545-194668546	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs377641906	chr1:194668600-194668601	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs543203880	chr1:194668640-194668641	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs12130067	chr1:194668672-194668673	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs34881005	chr1:194668698-194668699	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs532253576	chr1:194668701-194668702	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs185735076	chr1:194668752-194668753	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs530281703	chr1:194668810-194668811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373814348	chr1:194668811-194668812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375845098	chr1:194668834-194668835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559505303	chr1:194668869-194668870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188894970	chr1:194668900-194668901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12753796	chr1:194668985-194668986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs181384357	chr1:194669018-194669019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10494712	chr1:194669067-194669068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs368418098	chr1:194669073-194669074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112258289	chr1:194669089-194669090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552799231	chr1:194669106-194669107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543809477	chr1:194669130-194669131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194667800-194668200	Enhancers	Ovary	ovary
2	chr1:194668000-194668800	Active TSS	K562	blood
3	chr1:194668200-194668600	Active TSS	Ovary	ovary
4	chr1:194668200-194668800	Enhancers	Fetal Heart	heart
5	chr1:194668800-194669600	Weak transcription	K562	blood
6	chr1:194669400-194670000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:194669600-194670000	Enhancers	K562	blood
8	chr1:194670000-194671000	Weak transcription	K562	blood
9	chr1:194670000-194674400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:194671000-194671200	Enhancers	K562	blood
11	chr1:194674000-194675000	Enhancers	Fetal Lung	lung
12	chr1:194674200-194674600	Enhancers	Brain Hippocampus Middle	brain
13	chr1:194674200-194674800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:194674200-194674800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:194674200-194675000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr1:194674400-194675000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:194674400-194675000	Active TSS	Ovary	ovary
18	chr1:194674600-194675000	Active TSS	Brain Cingulate Gyrus	brain
19	chr1:194674600-194675000	Active TSS	Brain Hippocampus Middle	brain
20	chr1:194675000-194677400	Weak transcription	Fetal Lung	lung
21	chr1:194675000-194678600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:194676200-194676400	Enhancers	Left Ventricle	heart
23	chr1:194678600-194679000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:194678600-194679600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:194680200-194680600	Enhancers	Left Ventricle	heart

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