Variant report

Variant	rs11006701
Chromosome Location	chr10:28034629-28034630
allele	A/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	POLR2A	chr10:28034513-28034771	ProgFib	skin:	n/a	n/a
2	E2F6	chr10:28033207-28035994	H1-hESC	embryonic stem cell:	n/a	chr10:28034540-28034552 chr10:28035814-28035831 chr10:28035492-28035509 chr10:28034866-28034875 chr10:28034437-28034446 chr10:28034676-28034688 chr10:28035814-28035831
3	SETDB1	chr10:28034418-28035206	U2OS	brain:	n/a	n/a
4	CHD2	chr10:28034405-28034998	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr10:28034572-28034990	H1-neurons	neurons:	n/a	n/a
6	GTF2F1	chr10:28034508-28034803	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3A	chr10:28034402-28036216	H1-hESC	embryonic stem cell:	n/a	chr10:28034660-28034671
8	E2F6	chr10:28034500-28034977	A549	lung:	n/a	chr10:28034540-28034552 chr10:28034866-28034875 chr10:28034676-28034688
9	FOXA2	chr10:28034544-28034964	A549	lung:	n/a	n/a
10	MAX	chr10:28034530-28035083	A549	lung:	n/a	chr10:28034714-28034730
11	MAX	chr10:28034299-28035100	H1-hESC	embryonic stem cell:	n/a	chr10:28034714-28034730
12	TBP	chr10:28034447-28035726	H1-hESC	embryonic stem cell:	n/a	n/a
13	GABPA	chr10:28034425-28035212	H1-hESC	embryonic stem cell:	n/a	chr10:28034866-28034875
14	ATF3	chr10:28034619-28034943	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr10:28034221-28035275	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr10:28034385-28035745	H1-neurons	neurons:	n/a	n/a
17	TEAD4	chr10:28034508-28034965	H1-hESC	embryonic stem cell:	n/a	n/a
18	YY1	chr10:28034434-28034999	H1-hESC	embryonic stem cell:	n/a	chr10:28034440-28034460
19	SUZ12	chr10:28031619-28036341	NT2-D1	testis:	n/a	n/a
20	ZNF263	chr10:28034042-28035041	HEK293-T-REx	kidney:	n/a	n/a
21	E2F6	chr10:28033240-28035815	H1-hESC	embryonic stem cell:	n/a	chr10:28034540-28034552 chr10:28035492-28035509 chr10:28034866-28034875 chr10:28034437-28034446 chr10:28034676-28034688
22	E2F6	chr10:28034613-28034805	K562	blood:	n/a	chr10:28034676-28034688
23	MAX	chr10:28033165-28035047	ECC-1	luminal epithelium:	n/a	chr10:28034714-28034730
24	MAX	chr10:28033342-28035730	H1-hESC	embryonic stem cell:	n/a	chr10:28034714-28034730
25	MAX	chr10:28034537-28035046	A549	lung:	n/a	chr10:28034714-28034730
26	POLR2A	chr10:28034056-28034883	Gliobla	brain:	n/a	n/a
27	MAX	chr10:28034368-28035627	H1-hESC	embryonic stem cell:	n/a	chr10:28034714-28034730
28	MYC	chr10:28034312-28034910	H1-hESC	embryonic stem cell:	n/a	chr10:28034714-28034730
29	CREB1	chr10:28034555-28035410	H1-hESC	embryonic stem cell:	n/a	n/a
30	TEAD4	chr10:28034591-28034963	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTBP2	chr10:28029973-28035811	H1-hESC	embryonic stem cell:	n/a	n/a
32	GABPA	chr10:28034445-28035041	H1-hESC	embryonic stem cell:	n/a	chr10:28034866-28034875
33	CTCF	chr10:28034540-28034690	AG04449	skin:	n/a	n/a
34	SIX5	chr10:28034623-28035015	H1-hESC	embryonic stem cell:	n/a	n/a
35	ZNF143	chr10:28034597-28035333	H1-hESC	embryonic stem cell:	n/a	chr10:28034838-28034856
36	JUND	chr10:28034587-28035215	H1-hESC	embryonic stem cell:	n/a	n/a
37	KAP1	chr10:28034527-28035477	HEK293	kidney:	n/a	n/a
38	MAX	chr10:28034463-28035048	ECC-1	luminal epithelium:	n/a	chr10:28034714-28034730

Variant related genes	Relation type
MKX	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10826347	0.88[EUR][1000 genomes]
rs10826348	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10829311	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11006695	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11006706	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11015956	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11015959	0.83[EUR][1000 genomes]
rs11015961	0.88[EUR][1000 genomes]
rs11015964	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11015965	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11015966	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1112962	0.85[EUR][1000 genomes]
rs12217587	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12217663	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12257885	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12258832	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1907374	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2368249	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2368250	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4417171	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5024546	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72799605	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72799619	0.88[EUR][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	esv3368825	chr10:27864181-28043820	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv831813	chr10:28017606-28200651	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv917149	chr10:28018919-28688694	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28029800-28035800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr10:28029800-28036000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr10:28030000-28036600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr10:28030200-28036200	Bivalent Enhancer	Fetal Brain Male	brain
5	chr10:28030200-28036400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr10:28030600-28035400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:28030800-28035000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
8	chr10:28030800-28035600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
9	chr10:28030800-28035800	Active TSS	Aorta	Aorta
10	chr10:28031000-28035400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
11	chr10:28031000-28035400	Active TSS	Ovary	ovary
12	chr10:28031200-28034800	Bivalent/Poised TSS	NHLF	lung
13	chr10:28031200-28035800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr10:28031400-28035600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr10:28031400-28035800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:28031400-28035800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr10:28031600-28035200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
18	chr10:28031600-28035600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
19	chr10:28031600-28035600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
20	chr10:28031600-28035600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
21	chr10:28031600-28035600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
22	chr10:28031800-28034800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:28031800-28035400	Bivalent/Poised TSS	HSMM	muscle
24	chr10:28031800-28035800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr10:28032000-28035200	Bivalent/Poised TSS	HSMMtube	muscle
26	chr10:28032200-28034800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
27	chr10:28032200-28035400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
28	chr10:28032600-28034800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
29	chr10:28032600-28035200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
30	chr10:28032800-28035200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
31	chr10:28032800-28035400	Bivalent Enhancer	Placenta	Placenta
32	chr10:28032800-28035600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr10:28032800-28035800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr10:28032800-28036000	Bivalent Enhancer	Fetal Thymus	thymus
35	chr10:28033000-28034800	Flanking Active TSS	Pancreas	Pancrea
36	chr10:28033000-28035200	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
37	chr10:28033000-28035600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr10:28033000-28035600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr10:28033000-28036000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr10:28033200-28034800	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
41	chr10:28033200-28035000	Flanking Bivalent TSS/Enh	HMEC	breast
42	chr10:28033200-28035600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
43	chr10:28033200-28035800	Bivalent Enhancer	Spleen	Spleen
44	chr10:28033400-28035600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr10:28033600-28035800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
46	chr10:28033800-28034800	Bivalent Enhancer	Thymus	Thymus
47	chr10:28033800-28035000	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr10:28033800-28035600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
49	chr10:28033800-28035800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr10:28033800-28035800	Bivalent Enhancer	Stomach Mucosa	stomach

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