Variant report

Variant	rs73604056
Chromosome Location	chr10:28034282-28034283
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr10:28033292-28034313	MCF-7	breast:	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	BACH1	chr10:28034221-28035275	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr10:28033193-28034288	ECC-1	luminal epithelium:	n/a	n/a
5	HDAC2	chr10:28033487-28034381	MCF-7	breast:	n/a	chr10:28033561-28033580
6	POLR2A	chr10:28033014-28034326	H1-neurons	neurons:	n/a	n/a
7	SUZ12	chr10:28031619-28036341	NT2-D1	testis:	n/a	n/a
8	ZNF263	chr10:28034042-28035041	HEK293-T-REx	kidney:	n/a	n/a
9	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
10	MAX	chr10:28033165-28035047	ECC-1	luminal epithelium:	n/a	chr10:28034714-28034730
11	SUZ12	chr10:28033078-28034364	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr10:28033342-28035730	H1-hESC	embryonic stem cell:	n/a	chr10:28034714-28034730
13	POLR2A	chr10:28034056-28034883	Gliobla	brain:	n/a	n/a
14	CTBP2	chr10:28029973-28035811	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:28034247-28034297	PrEC	prostate:	n/a
2	chr10:28034247-28034297	SAEC	small airway:	n/a
3	chr10:28034247-28034297	GM12892	blood:	n/a
4	chr10:28034247-28034297	NHDF-neo	bronchial:	n/a
5	chr10:28034247-28034297	HRE	kidney:	n/a
6	chr10:28034247-28034297	CMK	blood:	n/a
7	chr10:28034247-28034297	LNCaP	prostate:	n/a
8	chr10:28034247-28034297	NH-A	brain:	n/a
9	chr10:28034247-28034297	HIPEpiC	eye:	n/a
10	chr10:28034247-28034297	HL-60	blood:	n/a
11	chr10:28034247-28034297	HPAEpiC	pulmonary alveolar:	n/a
12	chr10:28034247-28034297	HRPEpiC	eye:	n/a
13	chr10:28034247-28034297	BJ	skin:	n/a
14	chr10:28034247-28034297	ECC-1	luminal epithelium:	n/a
15	chr10:28034247-28034297	SK-N-SH_RA	brain:	n/a
16	chr10:28034247-28034297	RPTEC	kidney:	n/a
17	chr10:28034247-28034297	BE2_C	brain:	n/a
18	chr10:28034247-28034297	SK-N-MC	brain:	n/a
19	chr10:28034247-28034297	HNPCEpiC	eye:	n/a
20	chr10:28034247-28034297	HUVEC	blood vessel:	n/a
21	chr10:28034247-28034297	HepG2	liver:	n/a
22	chr10:28034247-28034297	HCF	heart:	n/a
23	chr10:28034247-28034297	GM19239	blood:	n/a
24	chr10:28034247-28034297	T-47D	breast:	n/a
25	chr10:28034247-28034297	PANC-1	pancreas:	n/a
26	chr10:28034247-28034297	NHBE	bronchial:	n/a
27	chr10:28034247-28034297	Jurkat	blood:	n/a
28	chr10:28034247-28034297	IMR90	lung:	fetal
29	chr10:28034247-28034297	ovcar-3	ovarian:	n/a
30	chr10:28034247-28034297	AG04450	lung:	fetal
31	chr10:28034247-28034297	NB4	blood:	n/a
32	chr10:28034247-28034297	HCM	heart:	n/a
33	chr10:28034247-28034297	GM06990	blood:	n/a
34	chr10:28034247-28034297	MCF-7	breast:	n/a
35	chr10:28034247-28034297	A549	lung:	n/a
36	chr10:28034247-28034297	AG04449	skin:	fetal
37	chr10:28034247-28034297	AoSMC	blood vessel:	n/a
38	chr10:28034247-28034297	U87	brain:	n/a
39	chr10:28034247-28034297	NT2-D1	testis:	n/a
40	chr10:28034247-28034297	HRCEpiC	kidney:	n/a
41	chr10:28034247-28034297	Caco-2	colon:	n/a
42	chr10:28034247-28034297	H1-hESC	embryonic stem cell:	embryo
43	chr10:28034247-28034297	ProgFib	skin:	n/a
44	chr10:28034247-28034297	HAEpiC	amniotic membrane:	n/a
45	chr10:28034247-28034297	HCT-116	colon:	n/a
46	chr10:28034247-28034297	SK-N-SH	brain:	n/a
47	chr10:28034247-28034297	HEEpiC	esophagus:	n/a
48	chr10:28034247-28034297	PFSK-1	brain:	n/a
49	chr10:28034247-28034297	Hepatocyte	liver:	n/a
50	chr10:28034247-28034297	AG09319	gingival:	n/a

No data

Variant related genes	Relation type
MKX	TF binding region
MKX	CpG island

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

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

rs_ID	r²[population]
rs10437435	1.00[AMR][1000 genomes]
rs12098473	0.80[AFR][1000 genomes]
rs12240762	1.00[AMR][1000 genomes]
rs12261080	1.00[AMR][1000 genomes]
rs16928129	1.00[AMR][1000 genomes]
rs16928237	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16928267	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16928281	0.85[AFR][1000 genomes]
rs16928301	0.80[AFR][1000 genomes]
rs16928302	0.80[AFR][1000 genomes]
rs57040272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604025	1.00[AMR][1000 genomes]
rs73604054	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604055	0.91[AFR][1000 genomes]
rs73604058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604063	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604069	0.85[AFR][1000 genomes]
rs73604071	0.80[AFR][1000 genomes]
rs73604072	0.80[AFR][1000 genomes]
rs73604075	0.80[AFR][1000 genomes]
rs7923439	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	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:118 , 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	chr10:28031600-28034600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
18	chr10:28031600-28035200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
19	chr10:28031600-28035600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
20	chr10:28031600-28035600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
21	chr10:28031600-28035600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
22	chr10:28031600-28035600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
23	chr10:28031800-28034400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
24	chr10:28031800-28034600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr10:28031800-28034600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
26	chr10:28031800-28034800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr10:28031800-28035400	Bivalent/Poised TSS	HSMM	muscle
28	chr10:28031800-28035800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
29	chr10:28032000-28035200	Bivalent/Poised TSS	HSMMtube	muscle
30	chr10:28032200-28034800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
31	chr10:28032200-28035400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
32	chr10:28032400-28034600	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
33	chr10:28032600-28034400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
34	chr10:28032600-28034800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
35	chr10:28032600-28035200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
36	chr10:28032800-28034400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr10:28032800-28035200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
38	chr10:28032800-28035400	Bivalent Enhancer	Placenta	Placenta
39	chr10:28032800-28035600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr10:28032800-28035800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr10:28032800-28036000	Bivalent Enhancer	Fetal Thymus	thymus
42	chr10:28033000-28034400	Bivalent Enhancer	Fetal Heart	heart
43	chr10:28033000-28034400	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
44	chr10:28033000-28034800	Flanking Active TSS	Pancreas	Pancrea
45	chr10:28033000-28035200	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
46	chr10:28033000-28035600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr10:28033000-28035600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr10:28033000-28036000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr10:28033200-28034800	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
50	chr10:28033200-28035000	Flanking Bivalent TSS/Enh	HMEC	breast

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