Variant report

Variant	rs12198683
Chromosome Location	chr6:146151180-146151181
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:146134387..146137603-chr6:146148264..146152568,4	K562	blood:
2	chr6:146141313..146146704-chr6:146148816..146153932,6	K562	blood:
3	chr6:146142328..146146619-chr6:146150916..146155602,4	K562	blood:

Variant related genes	Relation type
ENSG00000118496	Chromatin interaction
ENSG00000235652	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10447450	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10457789	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10457790	0.81[ASN][1000 genomes]
rs11232	0.93[ASN][1000 genomes]
rs12189548	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12193627	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12195117	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12195987	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12196298	0.81[ASN][1000 genomes]
rs12200607	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12205454	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12212636	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12214668	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12214705	1.00[CEU][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12216492	0.81[ASN][1000 genomes]
rs13196875	0.80[EUR][1000 genomes]
rs13200495	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs13201738	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13203662	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13209322	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13210966	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17225973	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28703599	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34211445	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35587488	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35667536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35807318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3811105	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3923580	0.91[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs714680	0.81[ASN][1000 genomes]
rs73579446	0.84[EUR][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	nsv1034226	chr6:146071068-146306942	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830835	chr6:146145148-146287473	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146136800-146165200	Weak transcription	Lung	lung
2	chr6:146137400-146167200	Weak transcription	Primary B cells from cord blood	blood
3	chr6:146137600-146156400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:146137800-146152800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:146137800-146159600	Weak transcription	Psoas Muscle	Psoas
6	chr6:146137800-146163000	Weak transcription	Fetal Stomach	stomach
7	chr6:146138000-146157000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:146140000-146157200	Weak transcription	HSMMtube	muscle
9	chr6:146149800-146151200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr6:146150200-146151400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr6:146150200-146151600	Enhancers	Osteobl	bone
12	chr6:146150600-146155000	Weak transcription	Ovary	ovary
13	chr6:146150600-146163000	Weak transcription	Left Ventricle	heart
14	chr6:146150600-146171200	Weak transcription	Aorta	Aorta
15	chr6:146150600-146174000	Weak transcription	Right Ventricle	heart
16	chr6:146150800-146151200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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