Variant report

Variant	rs12193575
Chromosome Location	chr6:131305724-131305725
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131303458..131306255-chr6:131349749..131352593,2	K562	blood:
2	chr6:131304583..131308500-chr6:131310186..131313138,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10456991	1.00[ASN][1000 genomes]
rs10457565	1.00[ASN][1000 genomes]
rs10457566	1.00[ASN][1000 genomes]
rs12192664	1.00[ASN][1000 genomes]
rs12193685	1.00[ASN][1000 genomes]
rs12198862	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12202022	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12202345	1.00[ASN][1000 genomes]
rs12204522	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12207007	1.00[ASN][1000 genomes]
rs12207401	1.00[ASN][1000 genomes]
rs12210131	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210483	1.00[ASN][1000 genomes]
rs12211363	1.00[ASN][1000 genomes]
rs12212907	1.00[ASN][1000 genomes]
rs12213224	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12214117	1.00[ASN][1000 genomes]
rs13191751	1.00[ASN][1000 genomes]
rs13193708	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13194156	0.92[EUR][1000 genomes]
rs13199082	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13205393	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13214846	1.00[ASN][1000 genomes]
rs13218427	1.00[ASN][1000 genomes]
rs13219477	1.00[ASN][1000 genomes]
rs34043716	1.00[ASN][1000 genomes]
rs34206551	1.00[ASN][1000 genomes]
rs34948572	1.00[ASN][1000 genomes]
rs35061946	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35089988	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35111535	1.00[ASN][1000 genomes]
rs35291891	0.91[EUR][1000 genomes]
rs35916985	1.00[ASN][1000 genomes]
rs6935560	1.00[ASN][1000 genomes]
rs6937306	1.00[ASN][1000 genomes]
rs71572945	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71572950	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760822	1.00[ASN][1000 genomes]
rs7767569	1.00[ASN][1000 genomes]
rs9885632	1.00[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	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr6:131288200-131306600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:131291800-131306200	Weak transcription	Fetal Intestine Small	intestine
3	chr6:131292400-131306400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:131298800-131314800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:131299000-131306200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:131299000-131309800	Weak transcription	HepG2	liver
7	chr6:131300400-131312200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr6:131300400-131314600	Weak transcription	Small Intestine	intestine
9	chr6:131301800-131306200	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:131302400-131306400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr6:131302800-131305800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr6:131302800-131306200	Weak transcription	Thymus	Thymus
13	chr6:131302800-131306200	Weak transcription	NHLF	lung
14	chr6:131303800-131315400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:131304000-131305800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:131304000-131312600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:131304200-131313400	Weak transcription	K562	blood
18	chr6:131304400-131306400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:131304400-131312200	Weak transcription	Fetal Stomach	stomach
20	chr6:131304600-131305800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr6:131305000-131306600	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:131305400-131306200	Enhancers	Brain Substantia Nigra	brain
23	chr6:131305600-131306200	Weak transcription	Dnd41	blood
24	chr6:131305600-131307000	ZNF genes & repeats	GM12878-XiMat	blood

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