Variant report

Variant	rs12199553
Chromosome Location	chr6:144192655-144192656
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144184104..144185729-chr6:144192312..144194282,2	K562	blood:

Variant related genes	Relation type
ENSG00000118491	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10457754	0.92[ASN][1000 genomes]
rs11155329	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203482	0.82[ASN][1000 genomes]
rs2092715	0.98[ASN][1000 genomes]
rs2328509	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4896679	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3522138	chr6:144174685-144367463	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3522139	chr6:144174685-144367463	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830830	chr6:144177942-144380870	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv604806	chr6:144188805-144199416	Enhancers ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv604807	chr6:144190492-144199416	ZNF genes & repeats Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144178800-144203800	Weak transcription	Stomach Mucosa	stomach
2	chr6:144183000-144193000	Weak transcription	Spleen	Spleen
3	chr6:144185600-144193000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:144186000-144192800	Weak transcription	HSMMtube	muscle
5	chr6:144186000-144223000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr6:144186200-144193200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr6:144186600-144193000	Weak transcription	Osteobl	bone
8	chr6:144186600-144193200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr6:144186800-144193000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:144187000-144193200	Weak transcription	NHEK	skin
11	chr6:144187000-144193800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:144187600-144193000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:144187600-144193000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:144187600-144193200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:144187600-144193400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr6:144187600-144193400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:144187600-144199400	Weak transcription	Left Ventricle	heart
18	chr6:144187800-144193400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr6:144190600-144193200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr6:144191000-144192800	Weak transcription	Fetal Muscle Leg	muscle

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