Variant report

Variant	rs62128635
Chromosome Location	chr2:10725334-10725335
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	GATA3	chr2:10724233-10725407	A549	lung:	n/a	chr2:10724464-10724476
2	MAFK	chr2:10725002-10725507	IMR90	lung:	n/a	n/a
3	FOXA2	chr2:10724256-10725519	HepG2	liver:	n/a	chr2:10725358-10725370
4	POLR2A	chr2:10724992-10725507	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr2:10725121-10725344	A549	lung:	n/a	n/a
6	TCF12	chr2:10724025-10725430	A549	lung:	n/a	chr2:10724228-10724236 chr2:10724525-10724534
7	REST	chr2:10724432-10725387	A549	lung:	n/a	n/a
8	STAT3	chr2:10724934-10725366	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr2:10724927-10725365	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr2:10724904-10725418	MCF10A-Er-Src	breast:	n/a	n/a
11	RAD21	chr2:10724952-10725365	IMR90	lung:	n/a	n/a
12	SP1	chr2:10724330-10725414	A549	lung:	n/a	n/a
13	SP1	chr2:10724407-10725380	A549	lung:	n/a	n/a
14	FOSL2	chr2:10724257-10725382	A549	lung:	n/a	chr2:10724699-10724711
15	CEBPB	chr2:10725067-10725446	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:10716323..10719861-chr2:10722961..10726442,3	MCF-7	breast:
2	chr2:10723207..10725627-chr2:10730117..10731698,2	K562	blood:
3	chr2:10720734..10723680-chr2:10724490..10727001,3	K562	blood:
4	chr2:10724831..10728793-chr2:10731457..10735556,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234818	TF binding region

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10084172	0.89[ASN][1000 genomes]
rs10166765	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10167779	0.82[ASN][1000 genomes]
rs10168351	0.91[ASN][1000 genomes]
rs10168852	0.91[ASN][1000 genomes]
rs10174605	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175555	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10175884	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10177062	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10178751	0.91[ASN][1000 genomes]
rs10179854	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10182589	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10183359	0.91[ASN][1000 genomes]
rs10183883	0.86[ASN][1000 genomes]
rs10186984	0.91[ASN][1000 genomes]
rs10187659	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10188373	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10190673	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10190774	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10198971	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10199635	0.89[ASN][1000 genomes]
rs10199831	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202370	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10207885	0.91[ASN][1000 genomes]
rs10208103	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10211190	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10803724	0.90[ASN][1000 genomes]
rs10803725	0.90[ASN][1000 genomes]
rs10929677	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10929678	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10929679	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10929680	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10929681	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10929683	0.91[ASN][1000 genomes]
rs10929684	0.91[ASN][1000 genomes]
rs10929685	0.91[ASN][1000 genomes]
rs11680664	0.91[ASN][1000 genomes]
rs11684537	0.91[ASN][1000 genomes]
rs12104950	0.91[ASN][1000 genomes]
rs12329184	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12473787	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12473957	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12476554	0.91[ASN][1000 genomes]
rs12613769	0.91[ASN][1000 genomes]
rs12618726	0.91[ASN][1000 genomes]
rs12621977	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12622053	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12690510	0.84[ASN][1000 genomes]
rs12692412	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12692414	0.87[ASN][1000 genomes]
rs12692420	0.82[ASN][1000 genomes]
rs12995465	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12996735	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13009015	0.90[ASN][1000 genomes]
rs13027316	0.82[ASN][1000 genomes]
rs13407040	0.82[ASN][1000 genomes]
rs13424648	0.89[ASN][1000 genomes]
rs13425171	0.91[ASN][1000 genomes]
rs13427815	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13430911	0.90[ASN][1000 genomes]
rs1861299	0.90[ASN][1000 genomes]
rs1861300	0.90[ASN][1000 genomes]
rs2024432	0.91[ASN][1000 genomes]
rs2024433	0.91[ASN][1000 genomes]
rs2160258	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2884232	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34595606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35859525	0.82[ASN][1000 genomes]
rs55750243	0.91[ASN][1000 genomes]
rs62127189	0.90[ASN][1000 genomes]
rs6711473	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714787	0.91[ASN][1000 genomes]
rs6717431	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720112	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6721857	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6722126	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6730247	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6732429	0.91[ASN][1000 genomes]
rs6740245	0.90[ASN][1000 genomes]
rs6751436	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755281	0.90[ASN][1000 genomes]
rs7572489	0.91[ASN][1000 genomes]
rs7589694	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs759401	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7598541	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9287718	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9973374	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9973456	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][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	chr2:10719400-10729000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:10719800-10746600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:10720000-10746400	Strong transcription	Dnd41	blood
27	chr2:10720200-10728400	Weak transcription	Psoas Muscle	Psoas
28	chr2:10720400-10728400	Weak transcription	Fetal Lung	lung
29	chr2:10720400-10740200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:10720800-10739200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:10721000-10728800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr2:10721000-10729000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:10721000-10755000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:10721200-10726200	Strong transcription	Adipose Nuclei	Adipose
35	chr2:10721200-10734600	Strong transcription	GM12878-XiMat	blood
36	chr2:10721200-10746800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:10721400-10727800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:10721400-10731200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr2:10721400-10735800	Strong transcription	Primary T cells from cord blood	blood
40	chr2:10721600-10726400	Strong transcription	Stomach Smooth Muscle	stomach
41	chr2:10721600-10731800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:10721600-10735600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr2:10721800-10725800	Enhancers	Fetal Heart	heart
44	chr2:10721800-10727800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:10721800-10728000	Weak transcription	Brain Angular Gyrus	brain
46	chr2:10722000-10728600	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:10722000-10735200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:10722000-10738200	Strong transcription	Fetal Muscle Leg	muscle
49	chr2:10722400-10734800	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr2:10722400-10735200	Strong transcription	Primary T helper cells fromperipheralblood	blood

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