Variant report

Variant	rs56226527
Chromosome Location	chr10:93559268-93559269
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	chr10:93559131-93559294	K562	blood:	n/a	n/a
2	FOS	chr10:93559059-93559734	MCF10A-Er-Src	breast:	n/a	chr10:93559542-93559551 chr10:93559544-93559551 chr10:93559541-93559552
3	FOS	chr10:93558979-93559731	MCF10A-Er-Src	breast:	n/a	chr10:93559542-93559551 chr10:93559544-93559551 chr10:93559541-93559552
4	STAT3	chr10:93558924-93559717	MCF10A-Er-Src	breast:	n/a	chr10:93559480-93559491 chr10:93559482-93559490 chr10:93559215-93559226
5	GATA2	chr10:93558745-93559392	HUVEC	blood vessel:	n/a	chr10:93559298-93559311 chr10:93558792-93558805
6	SPI1	chr10:93559035-93559296	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:93557770-93559336	NB4	blood:	n/a	n/a
8	STAT3	chr10:93558939-93559690	MCF10A-Er-Src	breast:	n/a	chr10:93559480-93559491 chr10:93559482-93559490 chr10:93559215-93559226
9	MXI1	chr10:93557289-93559806	IMR90	lung:	n/a	n/a
10	RUNX3	chr10:93558432-93559375	GM12878	blood:	n/a	chr10:93558877-93558892
11	ELF1	chr10:93558509-93559298	MCF-7	breast:	n/a	chr10:93558932-93558945
12	FOS	chr10:93558939-93559735	MCF10A-Er-Src	breast:	n/a	chr10:93559542-93559551 chr10:93559544-93559551 chr10:93559541-93559552
13	ELF1	chr10:93558652-93559285	K562	blood:	n/a	chr10:93558932-93558945
14	MYC	chr10:93559009-93559613	MCF10A-Er-Src	breast:	n/a	n/a
15	EP300	chr10:93557342-93559350	ECC-1	luminal epithelium:	n/a	chr10:93558379-93558395 chr10:93558934-93558941 chr10:93558236-93558252
16	JUND	chr10:93559168-93559864	SK-N-SH	brain:	n/a	chr10:93559784-93559798 chr10:93559542-93559551 chr10:93559544-93559551 chr10:93559541-93559552
17	CHD1	chr10:93557951-93559379	GM12878	blood:	n/a	n/a
18	POLR2A	chr10:93557479-93559292	HUVEC	blood vessel:	n/a	n/a
19	MXI1	chr10:93557578-93559858	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr10:93557476-93559630	Hela-S3	cervix:	n/a	n/a
21	PML	chr10:93558629-93559273	GM12878	blood:	n/a	n/a
22	EP300	chr10:93559195-93559346	GM12878	blood:	n/a	n/a
23	RFX5	chr10:93559049-93559305	GM12878	blood:	n/a	n/a
24	BRCA1	chr10:93558772-93559742	Hela-S3	cervix:	n/a	n/a
25	SPI1	chr10:93559039-93559302	GM12891	blood:	n/a	n/a
26	CHD1	chr10:93558593-93559646	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr10:93557712-93559339	Hela-S3	cervix:	n/a	n/a
28	MYC	chr10:93557532-93559359	NB4	blood:	n/a	chr10:93558281-93558290
29	STAT3	chr10:93558867-93560002	MCF10A-Er-Src	breast:	n/a	chr10:93559480-93559491 chr10:93559482-93559490 chr10:93559215-93559226
30	ELK1	chr10:93557779-93559319	GM12878	blood:	n/a	chr10:93558933-93558942 chr10:93558933-93558942
31	TBP	chr10:93558836-93559647	Hela-S3	cervix:	n/a	n/a
32	RFX5	chr10:93557431-93559378	Hela-S3	cervix:	n/a	chr10:93558862-93558875 chr10:93558102-93558117
33	GATA1	chr10:93557774-93559374	PBDE	blood:	n/a	chr10:93559298-93559311 chr10:93558792-93558805
34	SIN3A	chr10:93557498-93559615	H1-hESC	embryonic stem cell:	n/a	chr10:93558411-93558420
35	MAX	chr10:93557654-93559280	ECC-1	luminal epithelium:	n/a	chr10:93558281-93558290
36	POLR2A	chr10:93556830-93559405	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr10:93559246-93559269	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr10:93557202-93559639	GM12891	blood:	n/a	n/a
39	GATA3	chr10:93558989-93559461	SH-SY5Y	brain:	n/a	chr10:93559298-93559311
40	GATA2	chr10:93558779-93559332	SH-SY5Y	brain:	n/a	chr10:93559298-93559311 chr10:93558792-93558805
41	TBP	chr10:93558746-93559282	HepG2	liver:	n/a	n/a
42	MAX	chr10:93557318-93559614	NB4	blood:	n/a	chr10:93558281-93558290
43	MAX	chr10:93557803-93559667	Hela-S3	cervix:	n/a	chr10:93558281-93558290
44	POLR2A	chr10:93557671-93559387	PBDE	blood:	n/a	n/a
45	IRF1	chr10:93558949-93559300	K562	blood:	n/a	chr10:93559213-93559227 chr10:93559215-93559225 chr10:93559215-93559229 chr10:93559214-93559226 chr10:93559158-93559167
46	POLR2A	chr10:93557481-93559704	MCF10A-Er-Src	breast:	n/a	n/a
47	MAX	chr10:93557421-93559346	ECC-1	luminal epithelium:	n/a	chr10:93558281-93558290
48	MXI1	chr10:93557738-93559308	GM12878	blood:	n/a	n/a
49	MAFK	chr10:93558662-93559410	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr10:93557235-93559315	Raji	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:93558304..93560845-chr10:99161084..99163297,2	MCF-7	breast:
2	chr10:93558698..93560238-chr10:93571745..93574194,2	MCF-7	breast:
3	chr10:93422934..93425044-chr10:93558921..93560973,2	K562	blood:
4	chr10:93559267..93561929-chr10:93568041..93570595,2	MCF-7	breast:
5	chr10:93558185..93560569-chr10:93560780..93564031,3	MCF-7	breast:

Variant related genes	Relation type
TNKS2-AS1	TF binding region
ENSG00000052749	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs56001634	1.00[AMR][1000 genomes]
rs56035629	1.00[AMR][1000 genomes]
rs56078226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56214670	1.00[AMR][1000 genomes]
rs56327910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56358636	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56367452	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56684777	1.00[AMR][1000 genomes]
rs57058393	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57095232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58926566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59026711	1.00[AMR][1000 genomes]
rs61218533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7096955	1.00[AMR][1000 genomes]
rs73312343	1.00[AMR][1000 genomes]
rs73314308	1.00[AMR][1000 genomes]
rs73323985	1.00[AMR][1000 genomes]
rs74149282	1.00[AMR][1000 genomes]
rs74149289	1.00[AMR][1000 genomes]
rs74149292	1.00[AMR][1000 genomes]
rs74149303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74149304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74149306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74149308	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74149309	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74149310	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74151715	1.00[AMR][1000 genomes]
rs74151717	1.00[AMR][1000 genomes]
rs74151727	1.00[AMR][1000 genomes]
rs74151730	1.00[AMR][1000 genomes]
rs74151733	1.00[AMR][1000 genomes]
rs74151738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74151739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74151743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74151744	1.00[AMR][1000 genomes]
rs74151745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74151748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431124	chr10:93557397-93559945	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93556000-93560000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr10:93556000-93560000	Active TSS	Aorta	Aorta
3	chr10:93556000-93560000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr10:93556000-93560200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr10:93556000-93560200	Active TSS	Stomach Smooth Muscle	stomach
6	chr10:93556000-93560800	Active TSS	Right Atrium	heart
7	chr10:93556000-93561200	Active TSS	Ovary	ovary
8	chr10:93556200-93559800	Active TSS	Fetal Stomach	stomach
9	chr10:93556200-93560000	Active TSS	Colonic Mucosa	Colon
10	chr10:93556200-93560200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr10:93556200-93560200	Active TSS	Right Ventricle	heart
12	chr10:93556200-93560800	Active TSS	Psoas Muscle	Psoas
13	chr10:93556200-93562000	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr10:93556400-93559800	Active TSS	Primary T cells fromperipheralblood	blood
15	chr10:93556600-93560200	Active TSS	H9 Cell Line	embryonic stem cell
16	chr10:93556600-93560400	Active TSS	Fetal Muscle Trunk	muscle
17	chr10:93557000-93559600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr10:93557000-93559600	Active TSS	HSMM	muscle
19	chr10:93557000-93560200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr10:93557000-93560400	Active TSS	Placenta	Placenta
21	chr10:93557200-93559800	Active TSS	H1 Cell Line	embryonic stem cell
22	chr10:93557200-93559800	Active TSS	NHDF-Ad	bronchial
23	chr10:93557200-93560000	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr10:93557200-93560200	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr10:93557400-93559400	Active TSS	Brain Angular Gyrus	brain
26	chr10:93557400-93559400	Active TSS	Brain Cingulate Gyrus	brain
27	chr10:93557400-93559400	Active TSS	Brain Hippocampus Middle	brain
28	chr10:93557400-93559400	Active TSS	Placenta Amnion	Placenta Amnion
29	chr10:93557400-93559400	Active TSS	Stomach Mucosa	stomach
30	chr10:93557400-93559600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr10:93557400-93559600	Active TSS	Muscle Satellite Cultured Cells	--
32	chr10:93557400-93559600	Active TSS	Colon Smooth Muscle	Colon
33	chr10:93557400-93559600	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr10:93557400-93559800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr10:93557400-93559800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr10:93557400-93559800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr10:93557400-93559800	Active TSS	Fetal Kidney	kidney
38	chr10:93557400-93559800	Active TSS	Fetal Lung	lung
39	chr10:93557400-93559800	Active TSS	Thymus	Thymus
40	chr10:93557400-93559800	Active TSS	HSMMtube	muscle
41	chr10:93557400-93560000	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr10:93557400-93560200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr10:93557400-93560400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr10:93557400-93560400	Active TSS	Fetal Muscle Leg	muscle
45	chr10:93557400-93560400	Active TSS	K562	blood
46	chr10:93557400-93560600	Active TSS	Fetal Intestine Large	intestine
47	chr10:93557600-93559400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr10:93557600-93559400	Active TSS	Brain Anterior Caudate	brain
49	chr10:93557600-93559400	Active TSS	Esophagus	oesophagus
50	chr10:93557600-93559400	Active TSS	Lung	lung

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