Variant report

Variant	esv1798372
Chromosome Location	chr6:24158542-24181477
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:24168141-24168240	Kidney_OC	kidney:	n/a	n/a
2	E2F4	chr6:24173553-24173742	MCF10A-Er-Src	breast:	n/a	n/a
3	E2F4	chr6:24167254-24167432	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr6:24166982-24166991	K562	blood:	n/a	n/a
5	FOSL2	chr6:24158419-24158777	HepG2	liver:	n/a	n/a
6	FOSL2	chr6:24163688-24165192	HepG2	liver:	n/a	n/a
7	FOSL2	chr6:24160707-24161317	HepG2	liver:	n/a	chr6:24160780-24160789 chr6:24160779-24160788 chr6:24160780-24160787 chr6:24160780-24160788
8	FOSL2	chr6:24159209-24160006	HepG2	liver:	n/a	n/a
9	FOSL2	chr6:24163094-24163586	HepG2	liver:	n/a	n/a
10	FOSL2	chr6:24160061-24160486	HepG2	liver:	n/a	n/a
11	GATA3	chr6:24165272-24165392	SH-SY5Y	brain:	n/a	n/a
12	IRF1	chr6:24170942-24171033	K562	blood:	n/a	n/a
13	MXI1	chr6:24178480-24178507	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr6:24160353-24160399	HepG2	liver:	n/a	n/a
15	POLR2A	chr6:24177377-24177431	GM12878	blood:	n/a	n/a
16	POLR2A	chr6:24164217-24164302	HepG2	liver:	n/a	n/a
17	POLR2A	chr6:24169897-24169929	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:24160431-24160480	HepG2	liver:	n/a	n/a
19	POLR2A	chr6:24166320-24166411	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:24164553-24164697	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr6:24166287-24166314	HepG2	liver:	n/a	n/a
22	POLR2A	chr6:24166318-24166419	HepG2	liver:	n/a	n/a
23	POLR2A	chr6:24169825-24169896	GM12878	blood:	n/a	n/a
24	POLR2A	chr6:24159300-24159340	HepG2	liver:	n/a	n/a
25	POLR2A	chr6:24160402-24160426	HepG2	liver:	n/a	n/a
26	POLR2A	chr6:24164317-24164356	HepG2	liver:	n/a	n/a
27	POLR2A	chr6:24178821-24178983	GM12878	blood:	n/a	n/a
28	POLR2A	chr6:24164395-24164569	A549	lung:	n/a	n/a
29	POLR2A	chr6:24166446-24166464	HepG2	liver:	n/a	n/a
30	POLR2A	chr6:24163866-24164137	HepG2	liver:	n/a	n/a
31	POLR2A	chr6:24172062-24172083	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr6:24164405-24164678	HepG2	liver:	n/a	n/a
33	SPI1	chr6:24176455-24176704	HL-60	blood:	n/a	n/a
34	STAT3	chr6:24162902-24163102	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:24172312-24172362	NB4	blood:	n/a
2	chr6:24172312-24172362	HepG2	liver:	n/a
3	chr6:24172312-24172362	NH-A	brain:	n/a
4	chr6:24172312-24172362	HNPCEpiC	eye:	n/a
5	chr6:24172312-24172362	Caco-2	colon:	n/a
6	chr6:24172312-24172362	HPAEpiC	pulmonary alveolar:	n/a
7	chr6:24172312-24172362	PrEC	prostate:	n/a
8	chr6:24172312-24172362	U87	brain:	n/a
9	chr6:24172312-24172362	Hepatocyte	liver:	n/a
10	chr6:24172312-24172362	HRPEpiC	eye:	n/a
11	chr6:24172312-24172362	SK-N-SH	brain:	n/a
12	chr6:24172312-24172362	IMR90	lung:	fetal
13	chr6:24172312-24172362	BE2_C	brain:	n/a
14	chr6:24172312-24172362	GM12892	blood:	n/a
15	chr6:24172312-24172362	HL-60	blood:	n/a
16	chr6:24172312-24172362	GM12878	blood:	n/a
17	chr6:24172312-24172362	SAEC	small airway:	n/a
18	chr6:24172312-24172362	HEEpiC	esophagus:	n/a
19	chr6:24172312-24172362	CMK	blood:	n/a
20	chr6:24172312-24172362	K562	blood:	n/a
21	chr6:24172312-24172362	HCM	heart:	n/a
22	chr6:24172312-24172362	ovcar-3	ovarian:	n/a
23	chr6:24172312-24172362	NT2-D1	testis:	n/a
24	chr6:24172312-24172362	HEK293	kidney:	embryo
25	chr6:24172312-24172362	AG04450	lung:	fetal
26	chr6:24172312-24172362	AG10803	skin:	n/a
27	chr6:24172312-24172362	HIPEpiC	eye:	n/a
28	chr6:24172312-24172362	RPTEC	kidney:	n/a
29	chr6:24172312-24172362	HMEC	breast:	n/a
30	chr6:24172312-24172362	Jurkat	blood:	n/a
31	chr6:24172312-24172362	BJ	skin:	n/a
32	chr6:24172312-24172362	AoSMC	blood vessel:	n/a
33	chr6:24172312-24172362	T-47D	breast:	n/a
34	chr6:24172312-24172362	HCF	heart:	n/a
35	chr6:24172312-24172362	HCPEpiC	choroid plexus:	n/a
36	chr6:24172312-24172362	LNCaP	prostate:	n/a
37	chr6:24172312-24172362	PFSK-1	brain:	n/a
38	chr6:24172312-24172362	Hela-S3	cervix:	n/a
39	chr6:24172312-24172362	GM06990	blood:	n/a
40	chr6:24172312-24172362	AG04449	skin:	fetal
41	chr6:24172312-24172362	MCF10A-Er-Src	breast:	n/a
42	chr6:24172312-24172362	A549	lung:	n/a
43	chr6:24172312-24172362	AG09309	skin:	n/a
44	chr6:24172312-24172362	HCT-116	colon:	n/a
45	chr6:24172312-24172362	ProgFib	skin:	n/a
46	chr6:24172312-24172362	GM19239	blood:	n/a
47	chr6:24172312-24172362	MCF-7	breast:	n/a
48	chr6:24172312-24172362	PANC-1	pancreas:	n/a
49	chr6:24172312-24172362	NHDF-neo	bronchial:	n/a
50	chr6:24172312-24172362	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:24156672..24158492-chr6:24162411..24164152,2	MCF-7	breast:
2	chr15:65596739..65598774-chr6:24167185..24169291,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251830	TF binding region
ENSG00000251830	CpG island
ENSG00000200156	chromatin interactions

Extended variants
information (count: 1019 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1019 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3857540	chr6:24158542-24158543	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs368533186	chr6:24158585-24158586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75492290	chr6:24158615-24158616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs60661883	chr6:24158618-24158619	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189218981	chr6:24158620-24158621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375265032	chr6:24158648-24158649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs13199962	chr6:24158675-24158676	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs569596858	chr6:24158681-24158682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528902164	chr6:24158725-24158726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549074369	chr6:24158726-24158727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191818652	chr6:24158739-24158740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182859882	chr6:24158741-24158742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186671864	chr6:24158743-24158744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571395778	chr6:24158778-24158779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537342875	chr6:24158782-24158783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142167118	chr6:24158817-24158818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191829275	chr6:24158826-24158827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573929762	chr6:24158884-24158885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146373616	chr6:24158897-24158898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569720955	chr6:24158949-24158950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552986032	chr6:24158981-24158982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377491019	chr6:24158984-24158985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572979275	chr6:24158985-24158986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545144661	chr6:24159000-24159001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13203341	chr6:24159001-24159002	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs78491305	chr6:24159003-24159004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533701085	chr6:24159006-24159007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10595921	chr6:24159028-24159029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531024366	chr6:24159112-24159113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7754552	chr6:24159137-24159138	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs572297795	chr6:24159172-24159173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561447761	chr6:24159214-24159215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374799821	chr6:24159280-24159281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs28993070	chr6:24159301-24159302	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs139606863	chr6:24159330-24159331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565704161	chr6:24159430-24159431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528188951	chr6:24159438-24159439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534348107	chr6:24159464-24159465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144341262	chr6:24159472-24159473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571378928	chr6:24159492-24159493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536855111	chr6:24159512-24159513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187073795	chr6:24159561-24159562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373158617	chr6:24159565-24159566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536170807	chr6:24159592-24159593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552947198	chr6:24159601-24159602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9358752	chr6:24159636-24159637	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs114262645	chr6:24159663-24159664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1833033	chr6:24159670-24159671	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs386406499	chr6:24159705-24159706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4052668	chr6:24159721-24159722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24153800-24200800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:24155600-24160400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr6:24156400-24159000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:24157000-24158800	Enhancers	Brain Germinal Matrix	brain
5	chr6:24157600-24158800	Enhancers	Fetal Lung	lung
6	chr6:24157800-24158600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr6:24158000-24158600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:24158000-24158600	Enhancers	Rectal Smooth Muscle	rectum
9	chr6:24159000-24159200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:24163600-24177600	Weak transcription	Fetal Kidney	kidney
11	chr6:24164400-24183800	Weak transcription	Pancreas	Pancrea
12	chr6:24170000-24171600	Weak transcription	HepG2	liver
13	chr6:24171600-24173200	Strong transcription	HepG2	liver
14	chr6:24171600-24182800	Weak transcription	Fetal Intestine Small	intestine
15	chr6:24172800-24194800	Weak transcription	Fetal Intestine Large	intestine
16	chr6:24173200-24174000	Weak transcription	HepG2	liver
17	chr6:24174000-24179600	Strong transcription	HepG2	liver
18	chr6:24177600-24179600	Strong transcription	Fetal Kidney	kidney
19	chr6:24177800-24198400	Weak transcription	A549	lung
20	chr6:24179600-24181400	Weak transcription	Fetal Kidney	kidney
21	chr6:24179600-24181400	Weak transcription	HepG2	liver
22	chr6:24181400-24184000	Strong transcription	Fetal Kidney	kidney
23	chr6:24181400-24189600	Strong transcription	HepG2	liver

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