Variant report

Variant	rs12199983
Chromosome Location	chr6:167047530-167047531
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:167044666..167049346-chr6:167050228..167055763,8	K562	blood:
2	chr6:167045626..167049988-chr6:167051387..167056754,6	K562	blood:
3	chr6:167042665..167045576-chr6:167045886..167047673,3	K562	blood:
4	chr6:167040000..167042307-chr6:167045871..167048705,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071242	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10946178	1.00[CEU][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10946179	0.81[EUR][1000 genomes]
rs12196315	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12202785	0.80[EUR][1000 genomes]
rs12203904	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12204787	1.00[CEU][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2223405	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs2223406	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs3778367	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs3778369	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3778370	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3778371	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3778372	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs3778373	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3778375	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3799566	0.94[CEU][hapmap]
rs3799570	0.94[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3799571	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs58727224	0.88[EUR][1000 genomes]
rs60145177	0.88[EUR][1000 genomes]
rs6456097	0.95[CEU][hapmap]
rs6456098	0.94[CEU][hapmap]
rs6911301	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs6927052	0.85[EUR][1000 genomes]
rs6929319	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72503823	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs873070	1.00[CEU][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs873071	1.00[CEU][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes]
rs874153	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs916389	0.95[CEU][hapmap]
rs9347146	1.00[YRI][hapmap]
rs9348158	1.00[CHB][hapmap];0.88[JPT][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9348166	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs9348167	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs9356498	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9366034	0.90[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9459709	0.86[CHB][hapmap]

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	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv432984	chr6:167018915-167181613	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023649	chr6:167026469-167060732	Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167042800-167049600	Weak transcription	Adipose Nuclei	Adipose
2	chr6:167042800-167050600	Weak transcription	Esophagus	oesophagus
3	chr6:167043000-167048000	Weak transcription	Fetal Brain Female	brain
4	chr6:167043400-167058200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:167044600-167050000	Weak transcription	HUVEC	blood vessel
6	chr6:167045000-167048800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:167045000-167050600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:167045000-167061200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:167046000-167048200	Enhancers	Fetal Heart	heart
10	chr6:167046200-167047600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:167046200-167048000	Enhancers	Lung	lung
12	chr6:167046200-167048000	Enhancers	Right Atrium	heart
13	chr6:167046200-167051600	Enhancers	Right Ventricle	heart
14	chr6:167046400-167047800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr6:167046400-167048600	Weak transcription	Spleen	Spleen
16	chr6:167046600-167047600	Enhancers	Fetal Muscle Leg	muscle
17	chr6:167046600-167047800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr6:167046600-167048000	Enhancers	NHDF-Ad	bronchial
19	chr6:167046600-167054600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr6:167046800-167047600	Enhancers	NHLF	lung
21	chr6:167046800-167047800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:167046800-167047800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:167047400-167047600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:167047400-167047600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:167047400-167047600	Enhancers	Gastric	stomach
26	chr6:167047400-167047800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:167047400-167047800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr6:167047400-167047800	Flanking Active TSS	Left Ventricle	heart
29	chr6:167047400-167047800	Enhancers	Psoas Muscle	Psoas
30	chr6:167047400-167047800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr6:167047400-167047800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr6:167047400-167047800	Bivalent Enhancer	K562	blood

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