Variant report

Variant	rs12600163
Chromosome Location	chr16:71877201-71877202
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	NFIC	chr16:71877130-71877864	GM12878	blood:	n/a	n/a
2	IKZF1	chr16:71877166-71877943	GM12878	blood:	n/a	chr16:71877474-71877482
3	NFYB	chr16:71877148-71877750	GM12878	blood:	n/a	chr16:71877307-71877317 chr16:71877305-71877320 chr16:71877305-71877319 chr16:71877307-71877317 chr16:71877305-71877320 chr16:71877305-71877318

No.	Distal block	Cell Line	Cell type
1	chr16:71876239..71877929-chr16:71926608..71929113,2	K562	blood:
2	chr16:71840441..71845295-chr16:71875076..71881716,14	K562	blood:
3	chr16:71832833..71836832-chr16:71876405..71879704,4	K562	blood:

Variant related genes	Relation type
IST1	TF binding region
ATXN1L	TF binding region
ENSG00000182149	Chromatin interaction
ENSG00000166747	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1035543	0.91[CEU][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap];0.85[EUR][1000 genomes]
rs12597418	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12598902	0.84[YRI][hapmap];0.85[AFR][1000 genomes]
rs12600153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12925901	0.90[JPT][hapmap]
rs13332113	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13332180	1.00[CEU][hapmap];0.80[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13337118	0.89[EUR][1000 genomes]
rs16973477	0.85[CHB][hapmap]
rs17286411	0.90[JPT][hapmap]
rs1834033	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2291947	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2303220	0.90[JPT][hapmap]
rs34111614	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4538017	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4788448	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4788567	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4788572	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4788574	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4788578	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55702379	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56309616	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60075093	0.88[EUR][1000 genomes]
rs60740701	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7350856	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs952159	0.96[CEU][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes]
rs952160	0.96[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9889100	0.83[EUR][1000 genomes]
rs9925441	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9925684	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9929683	0.83[YRI][hapmap]
rs9936965	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9937626	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71870800-71879000	Weak transcription	NHEK	skin
2	chr16:71871400-71879000	Weak transcription	HMEC	breast
3	chr16:71871600-71879200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr16:71874600-71879000	Weak transcription	Hela-S3	cervix
5	chr16:71874800-71878800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr16:71875400-71879000	Enhancers	Primary B cells from peripheral blood	blood
7	chr16:71876000-71879400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr16:71876200-71878400	Flanking Active TSS	GM12878-XiMat	blood
9	chr16:71876200-71878800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr16:71876200-71879000	Weak transcription	Fetal Thymus	thymus
11	chr16:71876400-71879000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr16:71876400-71879200	Weak transcription	Esophagus	oesophagus
13	chr16:71876400-71879200	Weak transcription	Placenta	Placenta
14	chr16:71876600-71879000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr16:71876600-71879000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr16:71876600-71879000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:71876600-71879000	Weak transcription	K562	blood
18	chr16:71876600-71879200	Weak transcription	Primary T cells from cord blood	blood
19	chr16:71876800-71878800	Weak transcription	HepG2	liver
20	chr16:71876800-71879000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr16:71876800-71879000	Weak transcription	Primary B cells from cord blood	blood
22	chr16:71877000-71879000	Weak transcription	Pancreas	Pancrea
23	chr16:71877000-71879400	Weak transcription	Fetal Heart	heart
24	chr16:71877200-71877800	Enhancers	Fetal Kidney	kidney

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