Variant report

Variant	rs72787434
Chromosome Location	chr10:43915373-43915374
allele	C/T
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	GATA1	chr10:43915337-43917500	PBDE	blood:	n/a	chr10:43916640-43916661 chr10:43916647-43916657 chr10:43916645-43916655 chr10:43916642-43916658 chr10:43916645-43916654 chr10:43916647-43916654
2	POLR2A	chr10:43915264-43916849	HL-60	blood:	n/a	n/a
3	POLR2A	chr10:43915204-43916846	HepG2	liver:	n/a	n/a
4	CBX3	chr10:43915312-43916839	K562	blood:	n/a	n/a
5	SMARCB1	chr10:43915366-43916629	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:43914713..43918981-chr10:43928825..43933676,11	MCF-7	breast:
2	chr10:43912793..43917262-chr10:43929806..43934635,10	MCF-7	breast:
3	chr10:43914381..43916452-chr16:1830541..1833137,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221400	TF binding region
ENSG00000230555	TF binding region
ENSG00000162032	Chromatin interaction
ENSG00000095906	Chromatin interaction
ENSG00000243660	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1106215	1.00[ASN][1000 genomes]
rs11238575	1.00[ASN][1000 genomes]
rs17153601	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17366781	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1856400	1.00[ASN][1000 genomes]
rs1879311	1.00[ASN][1000 genomes]
rs2248807	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2253260	1.00[ASN][1000 genomes]
rs2261637	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2264603	1.00[ASN][1000 genomes]
rs2265955	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2812798	0.95[EUR][1000 genomes]
rs2819025	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999222	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999288	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2999290	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3006393	1.00[ASN][1000 genomes]
rs3006410	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3124211	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4948727	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55765722	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56037308	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56087058	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56234785	1.00[ASN][1000 genomes]
rs56237566	1.00[ASN][1000 genomes]
rs56252639	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56275379	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7072967	1.00[ASN][1000 genomes]
rs7073345	1.00[ASN][1000 genomes]
rs7084621	1.00[ASN][1000 genomes]
rs7085670	1.00[ASN][1000 genomes]
rs72785234	1.00[ASN][1000 genomes]
rs72785236	1.00[ASN][1000 genomes]
rs72785237	1.00[ASN][1000 genomes]
rs72785243	1.00[ASN][1000 genomes]
rs72785246	1.00[ASN][1000 genomes]
rs72785248	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785255	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785256	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785266	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7916718	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9422365	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv825354	chr10:43883418-43949936	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv825355	chr10:43890579-43923802	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv825356	chr10:43893080-43946515	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43905800-43915600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr10:43905800-43915600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:43906000-43915800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:43906400-43915600	Weak transcription	Hela-S3	cervix
5	chr10:43907600-43915600	Weak transcription	NHEK	skin
6	chr10:43911800-43915600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:43912000-43915600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr10:43912400-43915600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr10:43912600-43915400	Enhancers	Primary T cells from cord blood	blood
10	chr10:43912600-43915400	Enhancers	Dnd41	blood
11	chr10:43912600-43915600	Enhancers	Fetal Thymus	thymus
12	chr10:43912800-43915400	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr10:43912800-43915600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr10:43912800-43915600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr10:43912800-43915600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr10:43913000-43915400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr10:43913000-43915600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr10:43913000-43915600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr10:43913200-43915600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr10:43913200-43915800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr10:43913400-43915600	Enhancers	HepG2	liver
22	chr10:43913800-43915400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr10:43913800-43915600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:43913800-43915800	Weak transcription	A549	lung
25	chr10:43914000-43915400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr10:43914000-43915400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr10:43914000-43915400	Weak transcription	Adipose Nuclei	Adipose
28	chr10:43914000-43916000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr10:43914200-43915600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr10:43914200-43915600	Weak transcription	Fetal Heart	heart
31	chr10:43914200-43915600	Enhancers	GM12878-XiMat	blood
32	chr10:43914200-43915600	Weak transcription	HUVEC	blood vessel
33	chr10:43914200-43915600	Enhancers	K562	blood
34	chr10:43914400-43915400	Weak transcription	Brain Hippocampus Middle	brain
35	chr10:43914400-43915600	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr10:43914400-43915600	Weak transcription	Esophagus	oesophagus
37	chr10:43914400-43915600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr10:43914600-43915600	Weak transcription	Thymus	Thymus
39	chr10:43915000-43915400	Enhancers	Primary B cells from cord blood	blood
40	chr10:43915000-43915400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr10:43915000-43915600	Enhancers	Primary B cells from peripheral blood	blood
42	chr10:43915000-43915600	Enhancers	Duodenum Mucosa	Duodenum
43	chr10:43915000-43915600	Enhancers	Stomach Mucosa	stomach
44	chr10:43915000-43916000	Enhancers	Primary hematopoietic stem cells	blood
45	chr10:43915200-43915400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr10:43915200-43915400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr10:43915200-43915400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr10:43915200-43915400	Enhancers	Placenta	Placenta
49	chr10:43915200-43915400	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr10:43915200-43915400	Enhancers	Skeletal Muscle Female	skeletal muscle

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