Variant report

Variant	rs12252829
Chromosome Location	chr10:27023223-27023224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:69)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:69 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr10:27022806-27023667	HepG2	liver:	n/a	n/a
2	RAD21	chr10:27022946-27023414	HepG2	liver:	n/a	n/a
3	FOSL2	chr10:27022899-27023459	HepG2	liver:	n/a	n/a
4	HEY1	chr10:27022924-27023484	HepG2	liver:	n/a	n/a
5	MAFK	chr10:27023077-27023481	HepG2	liver:	n/a	n/a
6	MBD4	chr10:27022847-27023515	HepG2	liver:	n/a	n/a
7	POLR2A	chr10:27023207-27023251	H1-hESC	embryonic stem cell:	n/a	n/a
8	RXRA	chr10:27022970-27023441	HepG2	liver:	n/a	chr10:27023150-27023159
9	HNF4G	chr10:27022886-27023423	HepG2	liver:	n/a	chr10:27023146-27023158 chr10:27023146-27023158 chr10:27023190-27023202 chr10:27023145-27023159 chr10:27023143-27023158 chr10:27023145-27023158 chr10:27023145-27023158 chr10:27023146-27023158 chr10:27023181-27023203 chr10:27023146-27023159
10	SP1	chr10:27023143-27023519	H1-hESC	embryonic stem cell:	n/a	chr10:27023319-27023330 chr10:27023319-27023331 chr10:27023321-27023330
11	EP300	chr10:27022850-27023500	HepG2	liver:	n/a	n/a
12	FOXA1	chr10:27022907-27023539	HepG2	liver:	n/a	n/a
13	MBD4	chr10:27022943-27023556	HepG2	liver:	n/a	n/a
14	GATA3	chr10:27023164-27023551	T-47D	breast:	n/a	n/a
15	SP1	chr10:27023088-27023630	H1-hESC	embryonic stem cell:	n/a	chr10:27023319-27023330 chr10:27023319-27023331 chr10:27023321-27023330
16	FOXA2	chr10:27022976-27023444	HepG2	liver:	n/a	n/a
17	POLR2A	chr10:27022939-27023550	HepG2	liver:	n/a	n/a
18	TEAD4	chr10:27022725-27023602	HepG2	liver:	n/a	n/a
19	POLR2A	chr10:27022890-27023409	GM12892	blood:	n/a	n/a
20	MAFF	chr10:27023087-27023352	HepG2	liver:	n/a	n/a
21	REST	chr10:27022854-27023481	HepG2	liver:	n/a	n/a
22	NFIC	chr10:27022945-27023538	HepG2	liver:	n/a	n/a
23	POLR2A	chr10:27022710-27023438	HepG2	liver:	n/a	n/a
24	SMC3	chr10:27022949-27023428	HepG2	liver:	n/a	n/a
25	FOXA1	chr10:27023049-27023488	T-47D	breast:	n/a	n/a
26	NFIC	chr10:27022859-27023645	HepG2	liver:	n/a	n/a
27	EP300	chr10:27022922-27023423	HepG2	liver:	n/a	n/a
28	HEY1	chr10:27022867-27023607	HepG2	liver:	n/a	n/a
29	MXI1	chr10:27022976-27023518	HepG2	liver:	n/a	n/a
30	CEBPB	chr10:27022903-27023383	HepG2	liver:	n/a	n/a
31	RCOR1	chr10:27022977-27023387	HepG2	liver:	n/a	n/a
32	HNF4G	chr10:27022761-27023496	HepG2	liver:	n/a	chr10:27023146-27023158 chr10:27023146-27023158 chr10:27023190-27023202 chr10:27023145-27023159 chr10:27023143-27023158 chr10:27023145-27023158 chr10:27023145-27023158 chr10:27023146-27023158 chr10:27023181-27023203 chr10:27023146-27023159
33	JUND	chr10:27023070-27023345	HepG2	liver:	n/a	n/a
34	EP300	chr10:27023112-27023449	T-47D	breast:	n/a	n/a
35	EP300	chr10:27023055-27023638	T-47D	breast:	n/a	n/a
36	RAD21	chr10:27023001-27023455	HepG2	liver:	n/a	n/a
37	MAZ	chr10:27022949-27023411	HepG2	liver:	n/a	n/a
38	MAX	chr10:27022982-27023593	MCF-7	breast:	n/a	n/a
39	ARID3A	chr10:27022975-27023447	HepG2	liver:	n/a	n/a
40	EP300	chr10:27022967-27023475	HepG2	liver:	n/a	n/a
41	FOXA1	chr10:27022996-27023475	HepG2	liver:	n/a	n/a
42	MAX	chr10:27022952-27023394	HepG2	liver:	n/a	n/a
43	POLR2A	chr10:27022862-27023509	HepG2	liver:	n/a	n/a
44	POLR2A	chr10:27023175-27023277	GM12878	blood:	n/a	n/a
45	YY1	chr10:27023004-27023501	HepG2	liver:	n/a	chr10:27023319-27023330
46	FOXA1	chr10:27022844-27023596	HepG2	liver:	n/a	n/a
47	POLR2A	chr10:27023160-27023367	Hela-S3	cervix:	n/a	n/a
48	RFX5	chr10:27022976-27023354	HepG2	liver:	n/a	n/a
49	MYBL2	chr10:27022956-27023580	HepG2	liver:	n/a	n/a
50	POLR2A	chr10:27022932-27023764	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:27023190-27023240	NH-A	brain:	n/a
2	chr10:27023190-27023240	PANC-1	pancreas:	n/a
3	chr10:27023190-27023240	HEK293	kidney:	embryo
4	chr10:27023190-27023240	SK-N-SH	brain:	n/a
5	chr10:27023190-27023240	SK-N-MC	brain:	n/a
6	chr10:27023190-27023240	GM06990	blood:	n/a
7	chr10:27023190-27023240	Jurkat	blood:	n/a
8	chr10:27023190-27023240	HUVEC	blood vessel:	n/a
9	chr10:27023190-27023240	Caco-2	colon:	n/a
10	chr10:27023190-27023240	A549	lung:	n/a
11	chr10:27023190-27023240	HIPEpiC	eye:	n/a
12	chr10:27023190-27023240	AG09309	skin:	n/a
13	chr10:27023190-27023240	K562	blood:	n/a
14	chr10:27023190-27023240	HRPEpiC	eye:	n/a
15	chr10:27023190-27023240	U87	brain:	n/a
16	chr10:27023190-27023240	AG04449	skin:	fetal
17	chr10:27023190-27023240	ProgFib	skin:	n/a
18	chr10:27023190-27023240	LNCaP	prostate:	n/a
19	chr10:27023190-27023240	GM12878	blood:	n/a
20	chr10:27023190-27023240	RPTEC	kidney:	n/a
21	chr10:27023190-27023240	BE2_C	brain:	n/a
22	chr10:27023190-27023240	NHBE	bronchial:	n/a
23	chr10:27023190-27023240	HCM	heart:	n/a
24	chr10:27023190-27023240	HCPEpiC	choroid plexus:	n/a
25	chr10:27023190-27023240	HL-60	blood:	n/a
26	chr10:27023190-27023240	HCF	heart:	n/a
27	chr10:27023190-27023240	AG10803	skin:	n/a
28	chr10:27023190-27023240	HEEpiC	esophagus:	n/a
29	chr10:27023190-27023240	CMK	blood:	n/a
30	chr10:27023190-27023240	HCT-116	colon:	n/a
31	chr10:27023190-27023240	GM19239	blood:	n/a
32	chr10:27023190-27023240	IMR90	lung:	fetal
33	chr10:27023190-27023240	HPAEpiC	pulmonary alveolar:	n/a
34	chr10:27023190-27023240	NB4	blood:	n/a
35	chr10:27023190-27023240	GM12891	blood:	n/a
36	chr10:27023190-27023240	AoSMC	blood vessel:	n/a
37	chr10:27023190-27023240	SKMC	muscle:	n/a
38	chr10:27023190-27023240	GM12892	blood:	n/a
39	chr10:27023190-27023240	HepG2	liver:	n/a
40	chr10:27023190-27023240	AG09319	gingival:	n/a
41	chr10:27023190-27023240	ECC-1	luminal epithelium:	n/a
42	chr10:27023190-27023240	NHDF-neo	bronchial:	n/a
43	chr10:27023190-27023240	MCF-7	breast:	n/a
44	chr10:27023190-27023240	BJ	skin:	n/a
45	chr10:27023190-27023240	HRE	kidney:	n/a
46	chr10:27023190-27023240	NT2-D1	testis:	n/a
47	chr10:27023190-27023240	T-47D	breast:	n/a
48	chr10:27023190-27023240	HAEpiC	amniotic membrane:	n/a
49	chr10:27023190-27023240	SK-N-SH_RA	brain:	n/a
50	chr10:27023190-27023240	H1-hESC	embryonic stem cell:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27023145..27024775-chr10:27148207..27150009,2	MCF-7	breast:
2	chr10:26986198..26989615-chr10:27022506..27024765,3	MCF-7	breast:

No data

Variant related genes	Relation type
PDSS1	TF binding region
PDSS1	CpG island
ENSG00000148459	Chromatin interaction
ENSG00000136754	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11015219	1.00[AMR][1000 genomes]
rs11015248	1.00[AMR][1000 genomes]
rs11015252	1.00[AMR][1000 genomes]
rs11015317	1.00[AMR][1000 genomes]
rs12240788	1.00[AMR][1000 genomes]
rs12241021	1.00[AMR][1000 genomes]
rs12242741	1.00[AMR][1000 genomes]
rs12242781	1.00[AMR][1000 genomes]
rs12246527	1.00[AMR][1000 genomes]
rs12246860	1.00[AMR][1000 genomes]
rs12248463	1.00[AMR][1000 genomes]
rs12249971	1.00[AMR][1000 genomes]
rs12253149	1.00[AMR][1000 genomes]
rs12257262	1.00[AMR][1000 genomes]
rs12260147	1.00[AMR][1000 genomes]
rs12261754	1.00[AMR][1000 genomes]
rs12262215	1.00[AMR][1000 genomes]
rs12266735	1.00[AMR][1000 genomes]
rs12269061	1.00[AMR][1000 genomes]
rs56769298	1.00[AMR][1000 genomes]
rs58176653	1.00[AMR][1000 genomes]
rs58432580	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	esv3415799	chr10:26929831-27233591	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv933544	chr10:27005220-27111998	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2761585	chr10:27010701-27026012	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26987600-27024400	Weak transcription	Fetal Kidney	kidney
2	chr10:26987800-27031200	Weak transcription	NHDF-Ad	bronchial
3	chr10:26988000-27069600	Weak transcription	Colon Smooth Muscle	Colon
4	chr10:26989400-27031000	Weak transcription	Small Intestine	intestine
5	chr10:26994400-27040800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr10:26995800-27026600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr10:26996000-27026600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr10:26996200-27026200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr10:26996200-27028000	Weak transcription	Psoas Muscle	Psoas
10	chr10:26996600-27023600	Weak transcription	Fetal Heart	heart
11	chr10:26997200-27024400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr10:26997600-27054400	Weak transcription	Fetal Brain Male	brain
13	chr10:26999800-27037400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr10:27001000-27031800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr10:27001200-27041200	Strong transcription	Fetal Thymus	thymus
16	chr10:27001800-27041200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr10:27002200-27023400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr10:27004200-27031200	Weak transcription	Hela-S3	cervix
19	chr10:27006200-27023800	Weak transcription	NHLF	lung
20	chr10:27007800-27041200	Strong transcription	Dnd41	blood
21	chr10:27009600-27032200	Strong transcription	Fetal Muscle Trunk	muscle
22	chr10:27010000-27034600	Strong transcription	Thymus	Thymus
23	chr10:27011000-27024200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr10:27011000-27024200	Weak transcription	Aorta	Aorta
25	chr10:27011000-27027000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr10:27011200-27026200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr10:27011200-27026400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr10:27011200-27047400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr10:27011400-27023600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr10:27011400-27027000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr10:27012000-27044400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr10:27014800-27024200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr10:27014800-27024200	Weak transcription	Placenta	Placenta
34	chr10:27015000-27024000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr10:27015200-27035400	Weak transcription	Stomach Mucosa	stomach
36	chr10:27015800-27032400	Strong transcription	Fetal Stomach	stomach
37	chr10:27016000-27027600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr10:27018000-27025800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr10:27018000-27036400	Strong transcription	K562	blood
40	chr10:27018000-27038800	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr10:27018200-27025200	Strong transcription	HSMM	muscle
42	chr10:27018200-27025800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr10:27019200-27026000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr10:27019400-27025800	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr10:27019400-27026000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr10:27019400-27027200	Strong transcription	Fetal Muscle Leg	muscle
47	chr10:27019600-27025400	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr10:27019600-27025400	Strong transcription	Lung	lung
49	chr10:27019600-27025600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr10:27019600-27025800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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