Variant report

Variant	rs12196237
Chromosome Location	chr6:30969781-30969782
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30953051..30955055-chr6:30968288..30971008,2	K562	blood:
2	chr6:30967966..30971967-chr6:30974378..30977539,3	K562	blood:
3	chr6:30956761..30958639-chr6:30968903..30970825,2	MCF-7	breast:
4	chr6:30969067..30971818-chr6:30977942..30979590,2	K562	blood:

Variant related genes	Relation type
ENSG00000261272	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10456390	0.93[ASN][1000 genomes]
rs11757361	0.80[ASN][1000 genomes]
rs12193866	0.93[ASN][1000 genomes]
rs12196019	0.93[ASN][1000 genomes]
rs12197587	0.93[ASN][1000 genomes]
rs12198448	0.81[EUR][1000 genomes]
rs12201301	0.93[ASN][1000 genomes]
rs12202207	0.93[ASN][1000 genomes]
rs12204688	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12204735	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12204842	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12207025	0.93[ASN][1000 genomes]
rs12207166	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12207266	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12208652	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12211072	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12212799	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12214258	0.81[ASN][1000 genomes]
rs12215548	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13191523	0.93[ASN][1000 genomes]
rs13201872	0.81[ASN][1000 genomes]
rs13212987	0.93[ASN][1000 genomes]
rs17189812	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17189826	0.93[ASN][1000 genomes]
rs17196346	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3094086	0.80[ASN][1000 genomes]
rs3132580	0.80[ASN][1000 genomes]
rs3132581	0.80[ASN][1000 genomes]
rs3869095	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3873342	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41288689	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55883436	0.81[ASN][1000 genomes]
rs57426248	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6909998	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6910464	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6910475	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6926507	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73727119	0.80[ASN][1000 genomes]
rs73727120	0.80[ASN][1000 genomes]
rs73727123	0.80[ASN][1000 genomes]
rs73727137	0.80[ASN][1000 genomes]
rs73727153	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73727154	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73727156	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73727158	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73727160	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1031677	chr6:30857542-30972865	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv3358044	chr6:30940552-31000175	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1023108	chr6:30944982-30990490	Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv884127	chr6:30955681-30972121	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv462745	chr6:30955681-30987176	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv601485	chr6:30955681-30987176	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv601486	chr6:30957618-30980015	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv884128	chr6:30957766-30972121	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv970676	chr6:30966672-30987268	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30950800-30972200	Weak transcription	Right Atrium	heart
2	chr6:30965200-30975800	Weak transcription	Gastric	stomach
3	chr6:30966800-30972400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr6:30967000-30972200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:30967000-30972400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:30968000-30969800	Weak transcription	K562	blood
7	chr6:30969200-30970600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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