Variant report

Variant	rs73604054
Chromosome Location	chr10:28030912-28030913
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	CTCF	chr10:28030860-28031010	GM12869	blood:	n/a	n/a
2	RAD21	chr10:28030899-28031593	MCF-7	breast:	n/a	n/a
3	TCF7L2	chr10:28030795-28031455	Hela-S3	cervix:	n/a	chr10:28030972-28030981 chr10:28031142-28031149 chr10:28030972-28030982 chr10:28030968-28030984 chr10:28030971-28030980 chr10:28030969-28030983 chr10:28030968-28030984
4	ZNF143	chr10:28030910-28031457	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr10:28030800-28030950	HRE	kidney:	n/a	n/a
6	TCF7L2	chr10:28030746-28031528	HCT-116	colon:	n/a	chr10:28030972-28030981 chr10:28031142-28031149 chr10:28030972-28030982 chr10:28030968-28030984 chr10:28030971-28030980 chr10:28030969-28030983 chr10:28030968-28030984
7	CTCF	chr10:28030905-28030971	GM10266	blood:	n/a	n/a
8	TCF7L2	chr10:28030735-28031656	PANC-1	pancreas:	n/a	chr10:28030972-28030981 chr10:28031142-28031149 chr10:28030972-28030982 chr10:28030968-28030984 chr10:28030971-28030980 chr10:28030969-28030983 chr10:28030968-28030984
9	MAX	chr10:28029880-28031450	H1-hESC	embryonic stem cell:	n/a	chr10:28031404-28031413
10	RAD21	chr10:28030775-28031581	HCT-116	colon:	n/a	n/a
11	HCFC1	chr10:28030902-28031787	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr10:28030652-28031571	A549	lung:	n/a	n/a
13	MAX	chr10:28029755-28031448	H1-hESC	embryonic stem cell:	n/a	chr10:28031404-28031413
14	E2F6	chr10:28029879-28031338	H1-hESC	embryonic stem cell:	n/a	chr10:28030232-28030246 chr10:28030776-28030786 chr10:28030235-28030242 chr10:28030235-28030242 chr10:28030235-28030242 chr10:28031268-28031277
15	CTCF	chr10:28030820-28030970	HUVEC	blood vessel:	n/a	n/a
16	SIN3A	chr10:28030678-28031696	H1-hESC	embryonic stem cell:	n/a	chr10:28031249-28031262
17	CTBP2	chr10:28029973-28035811	H1-hESC	embryonic stem cell:	n/a	n/a
18	E2F6	chr10:28029638-28031447	H1-hESC	embryonic stem cell:	n/a	chr10:28030232-28030246 chr10:28030776-28030786 chr10:28030235-28030242 chr10:28030235-28030242 chr10:28030235-28030242 chr10:28031268-28031277
19	TFAP2A	chr10:28030664-28031568	Hela-S3	cervix:	n/a	chr10:28030771-28030782 chr10:28031183-28031198 chr10:28030844-28030858 chr10:28031185-28031195 chr10:28031184-28031195 chr10:28031183-28031197
20	TFAP2C	chr10:28030630-28031942	Hela-S3	cervix:	n/a	chr10:28031183-28031198
21	CTCF	chr10:28030820-28030970	GM12873	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:28030500..28032197-chr10:28034707..28036331,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230500	TF binding region
ENSG00000150051	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10437435	1.00[AMR][1000 genomes]
rs12240762	1.00[AMR][1000 genomes]
rs12261080	1.00[AMR][1000 genomes]
rs16928129	1.00[AMR][1000 genomes]
rs16928237	1.00[AMR][1000 genomes]
rs16928267	1.00[AMR][1000 genomes]
rs57040272	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604025	1.00[AMR][1000 genomes]
rs73604055	0.82[AFR][1000 genomes]
rs73604056	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604058	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604059	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604063	1.00[AMR][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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28029800-28031000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
2	chr10:28029800-28032600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr10:28029800-28033200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr10:28029800-28035800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr10:28029800-28036000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr10:28030000-28031200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
7	chr10:28030000-28032800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr10:28030000-28033400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:28030000-28033600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr10:28030000-28036600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr10:28030200-28031000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:28030200-28031200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
13	chr10:28030200-28031200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
14	chr10:28030200-28031200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:28030200-28031200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr10:28030200-28031200	Enhancers	Gastric	stomach
17	chr10:28030200-28031200	Bivalent Enhancer	Left Ventricle	heart
18	chr10:28030200-28031200	Enhancers	Spleen	Spleen
19	chr10:28030200-28031400	Bivalent Enhancer	Fetal Heart	heart
20	chr10:28030200-28031800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:28030200-28032800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr10:28030200-28036200	Bivalent Enhancer	Fetal Brain Male	brain
23	chr10:28030200-28036400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chr10:28030400-28031000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
25	chr10:28030400-28031000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr10:28030400-28031000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr10:28030400-28031000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
28	chr10:28030400-28031000	Flanking Active TSS	Right Ventricle	heart
29	chr10:28030400-28031000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
30	chr10:28030400-28031200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr10:28030400-28031200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
32	chr10:28030400-28031200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr10:28030400-28031200	Bivalent Enhancer	Fetal Stomach	stomach
34	chr10:28030400-28031200	Bivalent Enhancer	Fetal Thymus	thymus
35	chr10:28030400-28031200	Bivalent Enhancer	Stomach Mucosa	stomach
36	chr10:28030400-28031200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
37	chr10:28030400-28031600	Bivalent/Poised TSS	Thymus	Thymus
38	chr10:28030400-28031800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr10:28030400-28032200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr10:28030400-28033200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
41	chr10:28030400-28033400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr10:28030600-28031000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr10:28030600-28031000	Bivalent Enhancer	Brain Germinal Matrix	brain
44	chr10:28030600-28031000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
45	chr10:28030600-28031000	Bivalent Enhancer	Fetal Lung	lung
46	chr10:28030600-28031000	Enhancers	Placenta Amnion	Placenta Amnion
47	chr10:28030600-28031000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
48	chr10:28030600-28031000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
49	chr10:28030600-28031000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
50	chr10:28030600-28031200	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood

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