Variant report

Variant	rs7585532
Chromosome Location	chr2:100107778-100107779
allele	G/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	CEBPB	chr2:100107397-100107824	H1-hESC	embryonic stem cell:	n/a	chr2:100107729-100107738 chr2:100107729-100107738 chr2:100107729-100107738 chr2:100107727-100107740 chr2:100107727-100107738 chr2:100107727-100107740
2	CEBPB	chr2:100105858-100107896	Hela-S3	cervix:	n/a	chr2:100107729-100107738 chr2:100107729-100107738 chr2:100106054-100106067 chr2:100107729-100107738 chr2:100107727-100107740 chr2:100107727-100107738 chr2:100107727-100107740
3	CEBPB	chr2:100107414-100107879	A549	lung:	n/a	chr2:100107729-100107738 chr2:100107727-100107740 chr2:100107729-100107738 chr2:100107727-100107738 chr2:100107729-100107738 chr2:100107727-100107740
4	CEBPB	chr2:100106712-100107908	IMR90	lung:	n/a	chr2:100107729-100107738 chr2:100107729-100107738 chr2:100107729-100107738 chr2:100107727-100107740 chr2:100107727-100107738 chr2:100107727-100107740
5	CEBPB	chr2:100107528-100107802	K562	blood:	n/a	chr2:100107729-100107738 chr2:100107729-100107738 chr2:100107729-100107738 chr2:100107727-100107740 chr2:100107727-100107738 chr2:100107727-100107740
6	JUN	chr2:100105186-100107778	K562	blood:	n/a	n/a
7	CTCF	chr2:100106211-100107822	A549	lung:	n/a	chr2:100107020-100107038 chr2:100106518-100106534 chr2:100106698-100106711 chr2:100107015-100107036 chr2:100107021-100107037
8	CEBPB	chr2:100106813-100107879	K562	blood:	n/a	chr2:100107729-100107738 chr2:100107729-100107738 chr2:100107729-100107738 chr2:100107727-100107740 chr2:100107727-100107738 chr2:100107727-100107740
9	CEBPB	chr2:100106677-100107907	HepG2	liver:	n/a	chr2:100107729-100107738 chr2:100107729-100107738 chr2:100107729-100107738 chr2:100107727-100107740 chr2:100107727-100107738 chr2:100107727-100107740

No.	Distal block	Cell Line	Cell type
1	chr2:99950963..99955972-chr2:100104881..100108306,7	MCF-7	breast:
2	chr2:100075556..100080404-chr2:100103648..100108163,7	K562	blood:
3	chr2:99950324..99955285-chr2:100104603..100108030,8	MCF-7	breast:
4	chr2:99951055..99957153-chr2:100104418..100108530,14	K562	blood:
5	chr2:99796217..99799127-chr2:100105224..100108883,4	K562	blood:
6	chr2:100019850..100022413-chr2:100104870..100107869,3	MCF-7	breast:
7	chr2:100105579..100107417-chr2:100107751..100110835,3	MCF-7	breast:

Variant related genes	Relation type
REV1	TF binding region
ENSG00000241962	Chromatin interaction
ENSG00000158417	Chromatin interaction
ENSG00000273306	Chromatin interaction
ENSG00000185414	Chromatin interaction
ENSG00000158411	Chromatin interaction
ENSG00000115514	Chromatin interaction
ENSG00000135945	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10173883	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10175852	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10176205	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10179343	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10179435	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10179697	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10180138	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10180688	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10182492	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10186223	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10207435	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10210257	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10210346	0.91[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10496337	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11123783	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12162367	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12617324	0.80[EUR][1000 genomes]
rs12623835	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12992356	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13001438	0.86[EUR][1000 genomes]
rs13017843	0.83[EUR][1000 genomes]
rs13028722	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13384665	0.81[ASN][1000 genomes]
rs13394927	0.81[EUR][1000 genomes]
rs13401163	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13402784	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13405400	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13409359	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13415713	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13416265	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13419448	0.91[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13420087	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13420293	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13426758	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13427424	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13429185	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13429806	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs13430962	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13431410	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13432046	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1376444	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17022653	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17022663	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1882598	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1922625	0.81[EUR][1000 genomes]
rs2309577	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2309615	0.81[EUR][1000 genomes]
rs28369929	0.83[EUR][1000 genomes]
rs28369949	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28382945	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28382947	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28382955	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs28745279	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3087399	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3792151	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs3828162	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4522654	0.81[EUR][1000 genomes]
rs4850902	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4851199	0.81[EUR][1000 genomes]
rs4851201	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6542877	0.81[EUR][1000 genomes]
rs6706425	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6712137	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6721031	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6726711	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6745645	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6749029	0.81[EUR][1000 genomes]
rs72815074	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72817011	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7567230	0.81[EUR][1000 genomes]
rs7569805	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7579143	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7579171	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7581337	0.81[EUR][1000 genomes]
rs7582085	0.91[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7582133	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7584022	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7584705	0.81[EUR][1000 genomes]
rs7599384	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7603388	0.81[EUR][1000 genomes]
rs7606279	0.81[EUR][1000 genomes]
rs9308819	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9308821	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9308822	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9308823	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9973846	0.87[AFR][1000 genomes];0.89[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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv535841	chr2:100072790-100112121	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv1806302	chr2:100094799-100123030	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv1809009	chr2:100103752-100109251	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv582524	chr2:100103752-100110353	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv3354592	chr2:100104020-100108718	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100107400-100107800	Enhancers	Primary B cells from cord blood	blood
2	chr2:100107400-100107800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:100107400-100107800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:100107400-100107800	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:100107400-100107800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:100107400-100108000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr2:100107400-100108000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr2:100107400-100110400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:100107400-100111600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:100107600-100107800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:100107600-100107800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr2:100107600-100107800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:100107600-100107800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:100107600-100107800	Enhancers	Liver	Liver
15	chr2:100107600-100107800	Enhancers	Brain Angular Gyrus	brain
16	chr2:100107600-100107800	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr2:100107600-100107800	Enhancers	Brain Germinal Matrix	brain
18	chr2:100107600-100107800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr2:100107600-100107800	Enhancers	Stomach Smooth Muscle	stomach
20	chr2:100107600-100107800	Enhancers	Dnd41	blood
21	chr2:100107600-100107800	Enhancers	Hela-S3	cervix
22	chr2:100107600-100107800	Flanking Active TSS	HepG2	liver
23	chr2:100107600-100107800	Enhancers	HMEC	breast
24	chr2:100107600-100107800	Enhancers	K562	blood
25	chr2:100107600-100107800	Enhancers	NHLF	lung
26	chr2:100107600-100108000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:100107600-100109000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:100107600-100109600	Weak transcription	Fetal Stomach	stomach
29	chr2:100107600-100110400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:100107600-100111600	Weak transcription	Fetal Kidney	kidney
31	chr2:100107600-100111600	Weak transcription	Fetal Lung	lung
32	chr2:100107600-100111800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:100107600-100111800	Weak transcription	A549	lung
34	chr2:100107600-100112400	Weak transcription	Fetal Intestine Large	intestine
35	chr2:100107600-100112400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:100107600-100113000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:100107600-100119600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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