Variant report

Variant	rs788224
Chromosome Location	chr10:27532419-27532420
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:167)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:167 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr10:27531902-27532500	MCF-7	breast:	n/a	n/a
2	POLR2A	chr10:27531681-27532458	HL-60	blood:	n/a	n/a
3	MAX	chr10:27531753-27532603	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr10:27530430-27532475	HUVEC	blood vessel:	n/a	n/a
5	CHD2	chr10:27531814-27532530	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:27529059-27532978	MCF-7	breast:	n/a	n/a
7	MYC	chr10:27531708-27532563	K562	blood:	n/a	n/a
8	POU2F2	chr10:27531714-27532578	GM12878	blood:	n/a	n/a
9	MAX	chr10:27531724-27532605	HepG2	liver:	n/a	n/a
10	MTA3	chr10:27529032-27532977	GM12878	blood:	n/a	n/a
11	POLR2A	chr10:27531622-27532573	GM12891	blood:	n/a	n/a
12	KAP1	chr10:27531673-27532491	HEK293	kidney:	n/a	n/a
13	YY1	chr10:27531786-27532541	A549	lung:	n/a	n/a
14	ELF1	chr10:27531725-27532459	GM12878	blood:	n/a	chr10:27531856-27531867
15	YY1	chr10:27531826-27532646	GM12878	blood:	n/a	n/a
16	MYC	chr10:27531795-27532505	MCF-7	breast:	n/a	n/a
17	POLR2A	chr10:27529061-27532723	SK-N-MC	brain:	n/a	n/a
18	TBP	chr10:27530683-27532440	GM12878	blood:	n/a	chr10:27532336-27532347
19	MYC	chr10:27531733-27532489	MCF10A-Er-Src	breast:	n/a	n/a
20	GABPA	chr10:27531686-27532518	MCF-7	breast:	n/a	n/a
21	HEY1	chr10:27531601-27532510	HepG2	liver:	n/a	n/a
22	TEAD4	chr10:27531836-27532436	ECC-1	luminal epithelium:	n/a	n/a
23	NFATC1	chr10:27530640-27532693	GM12878	blood:	n/a	n/a
24	RELA	chr10:27531774-27532628	GM19099	blood:	n/a	n/a
25	POLR2A	chr10:27529167-27532597	Raji	blood:	n/a	n/a
26	MXI1	chr10:27528804-27533681	SK-N-SH	brain:	n/a	n/a
27	MAX	chr10:27531793-27532432	NB4	blood:	n/a	n/a
28	BCLAF1	chr10:27531593-27532573	GM12878	blood:	n/a	n/a
29	RELA	chr10:27531713-27532513	GM12891	blood:	n/a	n/a
30	POLR2A	chr10:27529206-27532672	GM12878	blood:	n/a	n/a
31	POLR2A	chr10:27529104-27532588	U87	brain:	n/a	n/a
32	MXI1	chr10:27529078-27532630	GM12878	blood:	n/a	n/a
33	EBF1	chr10:27532406-27532590	GM12878	blood:	n/a	chr10:27532496-27532507
34	GABPA	chr10:27531535-27532678	A549	lung:	n/a	n/a
35	SIN3A	chr10:27529056-27532474	H1-hESC	embryonic stem cell:	n/a	chr10:27531901-27531910 chr10:27530098-27530107
36	TAF1	chr10:27531702-27532454	MCF-7	breast:	n/a	n/a
37	E2F6	chr10:27531760-27532468	H1-hESC	embryonic stem cell:	n/a	n/a
38	RUNX3	chr10:27531704-27532492	GM12878	blood:	n/a	n/a
39	PAX5	chr10:27532213-27532569	GM12878	blood:	n/a	chr10:27532314-27532324
40	POLR2A	chr10:27531670-27532474	K562	blood:	n/a	n/a
41	RCOR1	chr10:27531674-27532537	IMR90	lung:	n/a	n/a
42	EP300	chr10:27531806-27532472	GM12878	blood:	n/a	chr10:27531852-27531866 chr10:27532000-27532014 chr10:27531856-27531865 chr10:27532007-27532016
43	POLR2A	chr10:27529181-27532999	GM12878	blood:	n/a	n/a
44	YY1	chr10:27531775-27532713	SK-N-SH_RA	brain:	n/a	n/a
45	RCOR1	chr10:27531890-27532434	HepG2	liver:	n/a	n/a
46	POLR2A	chr10:27529100-27533158	GM12891	blood:	n/a	n/a
47	MTA3	chr10:27531591-27532578	GM12878	blood:	n/a	n/a
48	POLR2A	chr10:27529235-27532454	HCT-116	colon:	n/a	n/a
49	POLR2A	chr10:27531693-27532615	ProgFib	skin:	n/a	n/a
50	TCF12	chr10:27531639-27532536	SK-N-SH	brain:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:36851243..36851919-chr10:27531741..27532426,2	NB4	blood:
2	chr10:27441850..27444956-chr10:27527496..27532549,10	MCF-7	breast:
3	chr10:27529521..27534854-chr10:27538591..27544292,11	K562	blood:
4	chr10:27530518..27532485-chr11:65188635..65191492,2	MCF-7	breast:
5	chr10:6242075..6244740-chr10:27530620..27532882,2	MCF-7	breast:
6	chr10:27442535..27445982-chr10:27528407..27534290,13	K562	blood:
7	chr10:27530732..27532552-chr3:155587161..155588906,2	MCF-7	breast:
8	chr1:179922632..179924837-chr10:27530640..27532515,2	MCF-7	breast:
9	chr10:27481130..27482667-chr10:27530501..27532426,2	K562	blood:
10	chr10:27528592..27532608-chr10:27549768..27554222,6	MCF-7	breast:
11	chr10:27422273..27425391-chr10:27529619..27533685,5	MCF-7	breast:
12	chr10:27441114..27446089-chr10:27527560..27532728,23	MCF-7	breast:
13	chr10:27442176..27446829-chr10:27524472..27534671,19	K562	blood:

No data

Variant related genes	Relation type
ACBD5	TF binding region
ENSG00000163655	Chromatin interaction
ENSG00000252639	Chromatin interaction
ENSG00000135837	Chromatin interaction
ENSG00000230445	Chromatin interaction
ENSG00000136758	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000238021	Chromatin interaction
ENSG00000213994	Chromatin interaction
ENSG00000120539	Chromatin interaction
ENSG00000260360	Chromatin interaction
ENSG00000196182	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10764674	1.00[AMR][1000 genomes]
rs10829210	1.00[AMR][1000 genomes]
rs11015569	1.00[AMR][1000 genomes]
rs1148168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1148170	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1630674	1.00[AMR][1000 genomes]
rs1753410	1.00[AMR][1000 genomes]
rs1755400	1.00[AMR][1000 genomes]
rs1755402	1.00[AMR][1000 genomes]
rs1775355	1.00[AMR][1000 genomes]
rs1887824	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2479910	1.00[AMR][1000 genomes]
rs2479913	1.00[AMR][1000 genomes]
rs2479916	1.00[AMR][1000 genomes]
rs2480716	1.00[AMR][1000 genomes]
rs2480717	1.00[AMR][1000 genomes]
rs2489371	1.00[AMR][1000 genomes]
rs3118890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4747591	1.00[AMR][1000 genomes]
rs487219	1.00[AMR][1000 genomes]
rs493598	1.00[AMR][1000 genomes]
rs525441	1.00[AMR][1000 genomes]
rs530567	1.00[AMR][1000 genomes]
rs56030738	1.00[AMR][1000 genomes]
rs605028	1.00[AMR][1000 genomes]
rs605354	1.00[AMR][1000 genomes]
rs607717	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60918938	1.00[AMR][1000 genomes]
rs620401	1.00[AMR][1000 genomes]
rs641128	1.00[AMR][1000 genomes]
rs646612	1.00[AMR][1000 genomes]
rs658082	1.00[AMR][1000 genomes]
rs695044	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7082922	1.00[AMR][1000 genomes]
rs7095372	1.00[AMR][1000 genomes]
rs788200	1.00[AMR][1000 genomes]
rs788206	1.00[AMR][1000 genomes]
rs788213	1.00[AMR][1000 genomes]
rs788217	1.00[AMR][1000 genomes]
rs788225	1.00[AMR][1000 genomes]
rs788231	1.00[AMR][1000 genomes]
rs788233	1.00[AMR][1000 genomes]
rs788236	1.00[AMR][1000 genomes]
rs788238	1.00[AMR][1000 genomes]
rs796842	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422253	chr10:27431366-27575370	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3337781	chr10:27472216-27666703	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv8614	chr10:27504487-27828406	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27528200-27532600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:27528200-27532800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr10:27528400-27532600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr10:27528400-27533000	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr10:27528400-27533000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr10:27528600-27532600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr10:27528600-27532600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:27528600-27532800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr10:27530600-27532600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:27530600-27532600	Active TSS	Stomach Mucosa	stomach
11	chr10:27531000-27532800	Active TSS	Stomach Smooth Muscle	stomach
12	chr10:27531400-27532600	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr10:27531400-27532800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr10:27531400-27532800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr10:27531600-27532600	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr10:27531600-27532600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr10:27531600-27532600	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr10:27531600-27532800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr10:27531800-27532600	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr10:27531800-27532600	Flanking Active TSS	Placenta	Placenta
21	chr10:27531800-27532600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr10:27531800-27532600	Flanking Active TSS	Rectal Smooth Muscle	rectum
23	chr10:27531800-27532600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr10:27531800-27532600	Flanking Active TSS	HUVEC	blood vessel
25	chr10:27531800-27532800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr10:27531800-27532800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr10:27531800-27532800	Flanking Active TSS	NHLF	lung
28	chr10:27531800-27533000	Flanking Active TSS	HMEC	breast
29	chr10:27532000-27532600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
30	chr10:27532000-27532600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr10:27532000-27532600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr10:27532000-27532600	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr10:27532000-27532600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr10:27532000-27532600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr10:27532000-27532600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr10:27532000-27532600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr10:27532000-27532600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr10:27532000-27532600	Flanking Active TSS	Fetal Intestine Large	intestine
39	chr10:27532000-27532600	Flanking Active TSS	Fetal Thymus	thymus
40	chr10:27532000-27532600	Flanking Active TSS	Lung	lung
41	chr10:27532000-27532600	Flanking Active TSS	Right Ventricle	heart
42	chr10:27532000-27532600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr10:27532000-27532600	Flanking Active TSS	K562	blood
44	chr10:27532000-27532600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr10:27532000-27532800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr10:27532000-27532800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr10:27532000-27532800	Flanking Active TSS	Fetal Brain Male	brain
48	chr10:27532000-27532800	Flanking Active TSS	Fetal Lung	lung
49	chr10:27532000-27532800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr10:27532000-27532800	Flanking Active TSS	NHEK	skin

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