Variant report

Variant	rs7524679
Chromosome Location	chr1:92179448-92179449
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	MTA3	chr1:92178705-92179533	GM12878	blood:	n/a	n/a
2	CHD2	chr1:92178692-92179452	GM12878	blood:	n/a	n/a
3	NFIC	chr1:92178629-92179511	GM12878	blood:	n/a	n/a
4	EP300	chr1:92178903-92179489	GM12878	blood:	n/a	n/a
5	EP300	chr1:92178891-92179502	GM12878	blood:	n/a	n/a
6	RUNX3	chr1:92178517-92179509	GM12878	blood:	n/a	n/a
7	EP300	chr1:92178915-92179547	GM12878	blood:	n/a	n/a
8	FOXM1	chr1:92178622-92179519	GM12878	blood:	n/a	n/a
9	EBF1	chr1:92178699-92179462	GM12878	blood:	n/a	chr1:92179156-92179166 chr1:92179156-92179165 chr1:92179155-92179166
10	RUNX3	chr1:92178689-92179597	GM12878	blood:	n/a	n/a
11	MXI1	chr1:92178750-92179471	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92178299..92180371-chr1:92198181..92200886,2	K562	blood:

Variant related genes	Relation type
TGFBR3	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11466587	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11466605	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11811962	0.90[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12722864	1.00[MEX][hapmap];0.90[TSI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12735851	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17131531	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17131534	0.85[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35166025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6660401	0.81[AMR][1000 genomes]
rs6665312	1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1014990	chr1:92084142-92206674	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92152600-92184200	Strong transcription	HepG2	liver
2	chr1:92153000-92197000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:92155800-92191200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:92159800-92183800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:92164000-92184400	Weak transcription	Hela-S3	cervix
6	chr1:92164000-92195000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:92165800-92184800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:92165800-92196800	Weak transcription	Small Intestine	intestine
9	chr1:92166600-92191000	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:92167400-92184800	Weak transcription	A549	lung
11	chr1:92168000-92191000	Weak transcription	HUVEC	blood vessel
12	chr1:92169800-92187200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:92171000-92196800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:92171200-92196800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:92172800-92197000	Weak transcription	Colonic Mucosa	Colon
16	chr1:92173200-92182400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr1:92173200-92202400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:92173600-92185000	Weak transcription	Gastric	stomach
19	chr1:92173600-92197800	Weak transcription	Brain Angular Gyrus	brain
20	chr1:92173800-92184400	Weak transcription	Fetal Intestine Small	intestine
21	chr1:92173800-92184600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:92174400-92180200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:92174400-92181600	Weak transcription	Pancreas	Pancrea
24	chr1:92174400-92184400	Weak transcription	Esophagus	oesophagus
25	chr1:92174400-92191200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:92174600-92180200	Weak transcription	Spleen	Spleen
27	chr1:92174600-92184800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:92175400-92180600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:92176800-92184400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:92177800-92181800	Genic enhancers	NHDF-Ad	bronchial
31	chr1:92178000-92181600	Weak transcription	Lung	lung
32	chr1:92178000-92185000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:92178200-92180000	Enhancers	NHLF	lung
34	chr1:92178200-92180200	Weak transcription	Fetal Intestine Large	intestine
35	chr1:92178200-92180400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:92178200-92180600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr1:92178200-92180800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr1:92178200-92181600	Enhancers	Fetal Lung	lung
39	chr1:92178200-92183600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:92178400-92179800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr1:92178400-92180800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr1:92178600-92179600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:92178600-92179600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:92178600-92179600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr1:92178600-92179800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:92178600-92179800	Enhancers	Ovary	ovary
47	chr1:92178800-92179600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:92178800-92179800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr1:92178800-92180200	Weak transcription	Liver	Liver
50	chr1:92178800-92184800	Weak transcription	Right Ventricle	heart

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