Variant report

Variant	rs4411227
Chromosome Location	chr10:94831513-94831514
allele	C/G
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	REST	chr10:94831483-94832075	ECC-1	luminal epithelium:	n/a	chr10:94831756-94831765
2	EP300	chr10:94831300-94831990	SK-N-SH_RA	brain:	n/a	chr10:94831943-94831956
3	BHLHE40	chr10:94831397-94832005	K562	blood:	n/a	n/a
4	CEBPD	chr10:94831439-94831929	K562	blood:	n/a	n/a
5	EP300	chr10:94831277-94831989	SK-N-SH_RA	brain:	n/a	chr10:94831943-94831956
6	CTCF	chr10:94831500-94831650	GM06990	blood:	n/a	n/a
7	RAD21	chr10:94831427-94831990	SK-N-SH_RA	brain:	n/a	chr10:94831665-94831684
8	ZMIZ1	chr10:94831481-94831966	K562	blood:	n/a	n/a
9	POLR2A	chr10:94831368-94832107	K562	blood:	n/a	n/a
10	MAX	chr10:94831484-94831969	K562	blood:	n/a	n/a
11	RXRA	chr10:94831456-94831930	HepG2	liver:	n/a	chr10:94831664-94831684 chr10:94831674-94831690 chr10:94831716-94831727 chr10:94831642-94831658 chr10:94831715-94831728
12	E2F6	chr10:94831502-94831879	K562	blood:	n/a	chr10:94831520-94831529 chr10:94831583-94831593
13	CCNT2	chr10:94830883-94832028	K562	blood:	n/a	chr10:94831439-94831448 chr10:94831226-94831235
14	TBP	chr10:94831480-94832105	K562	blood:	n/a	n/a
15	NR2F2	chr10:94831445-94832251	HepG2	liver:	n/a	n/a
16	UBTF	chr10:94831499-94832029	K562	blood:	n/a	n/a
17	GATA3	chr10:94831332-94832019	T-47D	breast:	n/a	chr10:94831502-94831512
18	RXRA	chr10:94831477-94831780	H1-hESC	embryonic stem cell:	n/a	chr10:94831664-94831684 chr10:94831674-94831690 chr10:94831716-94831727 chr10:94831642-94831658 chr10:94831715-94831728
19	ZBTB7A	chr10:94831451-94832054	ECC-1	luminal epithelium:	n/a	chr10:94831769-94831776
20	CBX3	chr10:94831483-94831996	K562	blood:	n/a	n/a
21	SRF	chr10:94831392-94832050	ECC-1	luminal epithelium:	n/a	n/a
22	YY1	chr10:94831470-94832009	HepG2	liver:	n/a	chr10:94831517-94831526
23	SP1	chr10:94831459-94831963	K562	blood:	n/a	chr10:94831768-94831775
24	SP1	chr10:94831382-94832003	K562	blood:	n/a	chr10:94831450-94831464 chr10:94831437-94831449 chr10:94831439-94831448 chr10:94831768-94831775 chr10:94831403-94831424 chr10:94831437-94831449 chr10:94831438-94831452 chr10:94831438-94831448
25	GATA3	chr10:94831447-94831897	T-47D	breast:	n/a	chr10:94831502-94831512
26	POLR2A	chr10:94831500-94832113	K562	blood:	n/a	n/a
27	TEAD4	chr10:94831325-94831835	K562	blood:	n/a	n/a
28	CUX1	chr10:94831497-94831924	K562	blood:	n/a	n/a
29	POLR2A	chr10:94831465-94832243	K562	blood:	n/a	n/a
30	MAX	chr10:94831471-94832518	ECC-1	luminal epithelium:	n/a	n/a
31	MAZ	chr10:94830848-94832307	K562	blood:	n/a	chr10:94831445-94831455
32	CTCF	chr10:94831500-94831650	GM12864	blood:	n/a	n/a
33	MAX	chr10:94831382-94832483	ECC-1	luminal epithelium:	n/a	chr10:94831445-94831455
34	EP300	chr10:94831427-94832069	K562	blood:	n/a	chr10:94831943-94831956
35	ARID3A	chr10:94831430-94831961	K562	blood:	n/a	n/a
36	POLR2A	chr10:94830881-94833922	K562	blood:	n/a	n/a
37	ZNF384	chr10:94830980-94831929	K562	blood:	n/a	n/a
38	RXRA	chr10:94831438-94831981	HepG2	liver:	n/a	chr10:94831664-94831684 chr10:94831674-94831690 chr10:94831716-94831727 chr10:94831642-94831658 chr10:94831715-94831728
39	ZBTB7A	chr10:94831450-94832282	ECC-1	luminal epithelium:	n/a	chr10:94831769-94831776
40	FOXA1	chr10:94831447-94832079	HepG2	liver:	n/a	n/a
41	TEAD4	chr10:94831444-94831869	HepG2	liver:	n/a	n/a
42	YY1	chr10:94831477-94831955	SK-N-SH_RA	brain:	n/a	chr10:94831517-94831526
43	HDAC2	chr10:94831462-94832017	MCF-7	breast:	n/a	n/a
44	YY1	chr10:94831446-94832067	SK-N-SH_RA	brain:	n/a	chr10:94831517-94831526 chr10:94831448-94831459
45	HCFC1	chr10:94831492-94832041	K562	blood:	n/a	n/a
46	MAX	chr10:94831503-94831833	K562	blood:	n/a	n/a
47	MYBL2	chr10:94831450-94831904	HepG2	liver:	n/a	n/a
48	MAX	chr10:94831454-94832516	MCF-7	breast:	n/a	n/a
49	CEBPD	chr10:94831446-94831783	HepG2	liver:	n/a	n/a
50	GATA2	chr10:94831454-94831756	SH-SY5Y	brain:	n/a	chr10:94831502-94831512

No.	Distal block	Cell Line	Cell type
1	chr10:94820481..94822581-chr10:94829729..94832249,3	K562	blood:
2	chr10:94813543..94815385-chr10:94829083..94832030,2	K562	blood:
3	chr10:94831292..94832013-chr10:95194568..95195322,2	MCF-7	breast:
4	chr10:94819837..94822581-chr10:94829729..94831832,4	K562	blood:
5	chr10:94650650..94651477-chr10:94831181..94832053,2	MCF-7	breast:
6	chr10:94730886..94732779-chr10:94830239..94832619,2	K562	blood:
7	chr10:94827502..94829121-chr10:94830877..94833097,2	MCF-7	breast:
8	chr10:94831275..94831828-chr8:80776663..80777182,2	K562	blood:
9	chr10:94588398..94591090-chr10:94830057..94832892,2	K562	blood:
10	chr10:94830658..94833124-chr10:94835303..94840164,8	K562	blood:

Variant related genes	Relation type
CYP26A1	TF binding region
ENSG00000138190	Chromatin interaction
ENSG00000226425	Chromatin interaction
ENSG00000187553	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10748589	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10786066	0.83[ASN][1000 genomes]
rs10786067	0.83[ASN][1000 genomes]
rs11812460	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12256889	0.81[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap]
rs4568938	0.83[ASN][1000 genomes]
rs4919594	0.85[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7068500	0.83[ASN][1000 genomes]
rs7096857	0.83[ASN][1000 genomes]
rs7895716	0.83[ASN][1000 genomes]
rs8211	0.80[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802015	chr10:94811983-94839960	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv895899	chr10:94818382-94836435	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94828800-94831600	Weak transcription	Gastric	stomach
2	chr10:94830200-94831600	Enhancers	A549	lung
3	chr10:94830400-94831600	Enhancers	Liver	Liver
4	chr10:94831000-94831600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:94831000-94831600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:94831000-94831600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
7	chr10:94831000-94831600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
8	chr10:94831000-94831600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr10:94831000-94831600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr10:94831000-94831600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr10:94831000-94831600	Enhancers	Ovary	ovary
12	chr10:94831000-94831600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
13	chr10:94831000-94831800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:94831000-94832000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr10:94831000-94833200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr10:94831200-94831600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:94831200-94831600	Bivalent Enhancer	Fetal Intestine Large	intestine
18	chr10:94831200-94832000	Active TSS	K562	blood
19	chr10:94831200-94833200	Bivalent Enhancer	Brain Germinal Matrix	brain
20	chr10:94831200-94834200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr10:94831400-94831600	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr10:94831400-94831600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr10:94831400-94831600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr10:94831400-94831600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr10:94831400-94831600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr10:94831400-94831600	Bivalent Enhancer	Fetal Brain Female	brain
27	chr10:94831400-94831600	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr10:94831400-94831600	Bivalent Enhancer	Fetal Stomach	stomach
29	chr10:94831400-94831600	Weak transcription	Pancreas	Pancrea
30	chr10:94831400-94831600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
31	chr10:94831400-94831800	Bivalent Enhancer	Primary B cells from cord blood	blood
32	chr10:94831400-94832000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
33	chr10:94831400-94832000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr10:94831400-94832200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr10:94831400-94832400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:94831400-94832400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
37	chr10:94831400-94832600	Bivalent/Poised TSS	HepG2	liver
38	chr10:94831400-94833000	Active TSS	Right Atrium	heart
39	chr10:94831400-94833200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
40	chr10:94831400-94833400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
41	chr10:94831400-94833800	Bivalent Enhancer	Fetal Brain Male	brain
42	chr10:94831400-94835400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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