Variant report

Variant	rs73165952
Chromosome Location	chr2:10724578-10724579
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	MAX	chr2:10724299-10724783	MCF-7	breast:	n/a	chr2:10724539-10724546
2	FOXA2	chr2:10724375-10725109	HepG2	liver:	n/a	n/a
3	JUND	chr2:10724476-10725029	T-47D	breast:	n/a	chr2:10724699-10724711
4	NFIC	chr2:10724499-10725043	HepG2	liver:	n/a	n/a
5	FOXA1	chr2:10724372-10724878	T-47D	breast:	n/a	n/a
6	GATA3	chr2:10724233-10725407	A549	lung:	n/a	chr2:10724464-10724476
7	BCL3	chr2:10724413-10725292	A549	lung:	n/a	chr2:10724466-10724473
8	EP300	chr2:10724313-10725316	T-47D	breast:	n/a	chr2:10724728-10724738
9	FOXA2	chr2:10724256-10725519	HepG2	liver:	n/a	chr2:10725358-10725370
10	HDAC2	chr2:10724567-10725111	HepG2	liver:	n/a	n/a
11	FOXA2	chr2:10724325-10725286	A549	lung:	n/a	n/a
12	NFIC	chr2:10724573-10725014	HepG2	liver:	n/a	n/a
13	TEAD4	chr2:10724362-10725285	HepG2	liver:	n/a	n/a
14	TCF12	chr2:10724025-10725430	A549	lung:	n/a	chr2:10724228-10724236 chr2:10724525-10724534
15	MAX	chr2:10724263-10725276	A549	lung:	n/a	chr2:10724539-10724546 chr2:10725234-10725243
16	REST	chr2:10724432-10725387	A549	lung:	n/a	n/a
17	JUND	chr2:10724455-10725096	T-47D	breast:	n/a	chr2:10724699-10724711
18	FOXA2	chr2:10724173-10725265	A549	lung:	n/a	n/a
19	ARID3A	chr2:10724511-10725108	HepG2	liver:	n/a	n/a
20	GATA3	chr2:10724368-10725253	T-47D	breast:	n/a	chr2:10724464-10724476
21	FOXA1	chr2:10724196-10725086	HepG2	liver:	n/a	n/a
22	SP1	chr2:10724330-10725414	A549	lung:	n/a	n/a
23	GATA3	chr2:10724437-10725271	MCF-7	breast:	n/a	chr2:10724464-10724476
24	USF1	chr2:10724380-10725223	A549	lung:	n/a	n/a
25	SP1	chr2:10724407-10725380	A549	lung:	n/a	n/a
26	FOSL2	chr2:10724257-10725382	A549	lung:	n/a	chr2:10724699-10724711
27	FOXA1	chr2:10724313-10725204	T-47D	breast:	n/a	n/a
28	GATA3	chr2:10724461-10725081	A549	lung:	n/a	chr2:10724464-10724476
29	MXI1	chr2:10724221-10724859	IMR90	lung:	n/a	n/a
30	TCF7L2	chr2:10724431-10724893	HepG2	liver:	n/a	n/a
31	FOXA1	chr2:10724390-10724993	HepG2	liver:	n/a	n/a
32	GATA3	chr2:10724406-10725209	T-47D	breast:	n/a	chr2:10724464-10724476
33	EP300	chr2:10724575-10724851	T-47D	breast:	n/a	chr2:10724728-10724738
34	FOXA1	chr2:10724293-10725118	HepG2	liver:	n/a	n/a
35	FOXA1	chr2:10724280-10725247	HepG2	liver:	n/a	n/a
36	HDAC2	chr2:10724497-10725003	HepG2	liver:	n/a	n/a
37	NR2F2	chr2:10724450-10724991	MCF-7	breast:	n/a	n/a
38	GABPA	chr2:10724435-10725190	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:10719786..10721769-chr2:10722160..10724632,2	MCF-7	breast:
2	chr2:10716323..10719861-chr2:10722961..10726442,3	MCF-7	breast:
3	chr2:10723207..10725627-chr2:10730117..10731698,2	K562	blood:
4	chr2:10720734..10723680-chr2:10724490..10727001,3	K562	blood:

Variant related genes	Relation type
ENSG00000234818	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs57810121	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58188603	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58615432	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60258740	1.00[AMR][1000 genomes]
rs6432103	1.00[AMR][1000 genomes]
rs6759602	1.00[AMR][1000 genomes]
rs73165928	0.94[AFR][1000 genomes]
rs73165947	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73182443	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv833370	chr2:10625149-10785402	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1009897	chr2:10627248-10751468	Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10698600-10736600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10705800-10736000	Strong transcription	Duodenum Mucosa	Duodenum
3	chr2:10707400-10728800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:10708600-10727000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:10708600-10732000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:10708800-10732800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:10709000-10725800	Strong transcription	Primary B cells from peripheral blood	blood
8	chr2:10709000-10726600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr2:10709200-10746800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:10709400-10732600	Strong transcription	Primary B cells from cord blood	blood
11	chr2:10712600-10742000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:10713200-10727800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:10713800-10725600	Strong transcription	K562	blood
14	chr2:10717000-10728800	Weak transcription	Colonic Mucosa	Colon
15	chr2:10717600-10725600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:10717600-10732400	Weak transcription	Fetal Brain Male	brain
17	chr2:10717800-10725400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:10717800-10725400	Weak transcription	NHLF	lung
19	chr2:10717800-10726000	Weak transcription	Brain Germinal Matrix	brain
20	chr2:10717800-10726400	Weak transcription	HUVEC	blood vessel
21	chr2:10717800-10727600	Weak transcription	Brain Anterior Caudate	brain
22	chr2:10717800-10729000	Weak transcription	Small Intestine	intestine
23	chr2:10718000-10732000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:10718600-10724600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:10719400-10729000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:10719800-10746600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:10720000-10746400	Strong transcription	Dnd41	blood
28	chr2:10720200-10728400	Weak transcription	Psoas Muscle	Psoas
29	chr2:10720400-10728400	Weak transcription	Fetal Lung	lung
30	chr2:10720400-10740200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:10720800-10739200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:10721000-10724600	Weak transcription	HSMMtube	muscle
33	chr2:10721000-10728800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr2:10721000-10729000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:10721000-10755000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:10721200-10726200	Strong transcription	Adipose Nuclei	Adipose
37	chr2:10721200-10734600	Strong transcription	GM12878-XiMat	blood
38	chr2:10721200-10746800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:10721400-10724600	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr2:10721400-10725200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:10721400-10727800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:10721400-10731200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr2:10721400-10735800	Strong transcription	Primary T cells from cord blood	blood
44	chr2:10721600-10724600	Strong transcription	Aorta	Aorta
45	chr2:10721600-10724600	Strong transcription	Pancreas	Pancrea
46	chr2:10721600-10726400	Strong transcription	Stomach Smooth Muscle	stomach
47	chr2:10721600-10731800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:10721600-10735600	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:10721800-10724800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:10721800-10725200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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