Variant report

Variant	rs748822
Chromosome Location	chr12:59282525-59282526
allele	A/C/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	MAFK	chr12:59282256-59282531	HepG2	liver:	n/a	chr12:59282384-59282395 chr12:59282380-59282396 chr12:59282376-59282393 chr12:59282385-59282396 chr12:59282385-59282396 chr12:59282380-59282395
2	MAFK	chr12:59282042-59282534	IMR90	lung:	n/a	chr12:59282384-59282395 chr12:59282380-59282396 chr12:59282376-59282393 chr12:59282385-59282396 chr12:59282385-59282396 chr12:59282380-59282395
3	MAZ	chr12:59282460-59282535	GM12878	blood:	n/a	n/a
4	MAFF	chr12:59282248-59282548	K562	blood:	n/a	n/a
5	MAFK	chr12:59282253-59282583	K562	blood:	n/a	chr12:59282384-59282395 chr12:59282380-59282396 chr12:59282376-59282393 chr12:59282385-59282396 chr12:59282385-59282396 chr12:59282380-59282395

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:59265300..59268066-chr12:59282069..59283994,2	MCF-7	breast:
2	chr12:59278745..59280496-chr12:59282070..59283730,2	MCF-7	breast:

Variant related genes	Relation type
LRIG3	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10506360	0.84[AMR][1000 genomes]
rs11172776	0.88[AMR][1000 genomes]
rs11172781	0.88[AMR][1000 genomes]
rs11172785	0.88[AMR][1000 genomes]
rs11172814	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11611527	1.00[AFR][1000 genomes]
rs11837539	0.83[EUR][1000 genomes]
rs12301978	0.83[EUR][1000 genomes]
rs12322708	1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs17121655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121742	1.00[AFR][1000 genomes]
rs17121751	1.00[AFR][1000 genomes]
rs60869355	0.83[EUR][1000 genomes]
rs61921895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61921896	1.00[EUR][1000 genomes]
rs61921899	0.83[EUR][1000 genomes]
rs61921902	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758311	chr12:59022729-59323045	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2759902	chr12:59022729-59323045	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59260600-59284200	Strong transcription	HUVEC	blood vessel
2	chr12:59261400-59284200	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr12:59261600-59284200	Strong transcription	Rectal Mucosa Donor 31	rectum
4	chr12:59262600-59295000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:59264800-59284200	Strong transcription	Duodenum Mucosa	Duodenum
6	chr12:59265400-59284200	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr12:59266000-59311000	Weak transcription	Fetal Thymus	thymus
8	chr12:59266200-59284000	Strong transcription	Fetal Muscle Trunk	muscle
9	chr12:59266400-59284000	Strong transcription	Fetal Muscle Leg	muscle
10	chr12:59271600-59284600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:59271600-59284600	Strong transcription	Osteobl	bone
12	chr12:59271800-59284000	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr12:59272800-59285800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:59273200-59283400	Weak transcription	Esophagus	oesophagus
15	chr12:59273600-59287000	Weak transcription	Stomach Mucosa	stomach
16	chr12:59273800-59283400	Weak transcription	Lung	lung
17	chr12:59273800-59283400	Weak transcription	Spleen	Spleen
18	chr12:59273800-59289000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:59274600-59283200	Weak transcription	Gastric	stomach
20	chr12:59274600-59283200	Weak transcription	Pancreas	Pancrea
21	chr12:59274800-59283600	Weak transcription	Fetal Intestine Small	intestine
22	chr12:59274800-59289000	Weak transcription	Right Ventricle	heart
23	chr12:59275000-59300800	Weak transcription	HSMMtube	muscle
24	chr12:59275200-59297800	Weak transcription	Hela-S3	cervix
25	chr12:59276600-59284000	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:59277400-59286000	Weak transcription	GM12878-XiMat	blood
27	chr12:59277600-59283000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:59277800-59288800	Weak transcription	Right Atrium	heart
29	chr12:59278200-59284000	Strong transcription	Fetal Kidney	kidney
30	chr12:59278200-59284000	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:59278400-59283000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:59278400-59284000	Strong transcription	HSMM	muscle
33	chr12:59278600-59283200	Weak transcription	Aorta	Aorta
34	chr12:59279000-59282600	Weak transcription	Ovary	ovary
35	chr12:59279000-59286800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:59279000-59310800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr12:59279200-59283200	Weak transcription	Small Intestine	intestine
38	chr12:59279200-59290200	Weak transcription	Fetal Heart	heart
39	chr12:59279200-59309400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr12:59279600-59284000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:59279600-59284000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:59279800-59284200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr12:59280200-59287400	Weak transcription	Psoas Muscle	Psoas
44	chr12:59280400-59282800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:59280600-59282800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:59280800-59282800	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr12:59280800-59283400	Genic enhancers	Fetal Lung	lung
48	chr12:59281000-59282600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:59281000-59283200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:59281000-59284000	Strong transcription	HepG2	liver

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