Variant report

Variant	rs6688248
Chromosome Location	chr1:150868282-150868283
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150525936..150528012-chr1:150866007..150868752,2	MCF-7	breast:
2	chr1:150538508..150540794-chr1:150868102..150869659,2	K562	blood:
3	chr1:150867829..150869388-chr1:150873614..150875595,2	MCF-7	breast:
4	chr1:150859611..150863685-chr1:150866729..150869931,3	K562	blood:
5	chr1:150848907..150850900-chr1:150866879..150869881,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143437	Chromatin interaction
ENSG00000264508	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10788795	0.80[EUR][1000 genomes]
rs10888396	0.84[EUR][1000 genomes]
rs11204727	0.80[EUR][1000 genomes]
rs11576175	0.80[EUR][1000 genomes]
rs11579289	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12040707	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12042263	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12044969	0.87[ASN][1000 genomes]
rs12728254	0.88[EUR][1000 genomes]
rs16832604	0.89[ASN][1000 genomes]
rs2134688	0.88[EUR][1000 genomes]
rs2305812	0.84[ASN][1000 genomes]
rs2305815	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs267724	0.86[ASN][1000 genomes]
rs267736	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34090972	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3738483	0.88[EUR][1000 genomes]
rs3754210	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3768017	0.88[EUR][1000 genomes]
rs3820541	0.91[EUR][1000 genomes]
rs3820543	0.88[EUR][1000 genomes]
rs4379678	0.88[EUR][1000 genomes]
rs533928	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs539118	0.86[ASN][1000 genomes]
rs61817600	0.80[EUR][1000 genomes]
rs61817649	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661100	0.80[EUR][1000 genomes]
rs6671489	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6671703	0.85[EUR][1000 genomes]
rs6679701	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6692277	0.80[EUR][1000 genomes]
rs6696167	0.80[EUR][1000 genomes]
rs72704624	0.80[EUR][1000 genomes]
rs72706512	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7517566	0.91[EUR][1000 genomes]
rs7521445	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7529204	0.91[EUR][1000 genomes]
rs7535032	0.86[ASN][1000 genomes]
rs7535848	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs771203	0.86[ASN][1000 genomes]
rs771204	0.86[ASN][1000 genomes]
rs771205	0.87[ASN][1000 genomes]

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	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv2810	chr1:150835173-150879869	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1008496	chr1:150845827-150970656	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150867800-150868400	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr1:150867800-150868600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:150867800-150868600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:150867800-150868600	Enhancers	HMEC	breast
5	chr1:150867800-150869000	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr1:150867800-150869000	Enhancers	Hela-S3	cervix
7	chr1:150868000-150868400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:150868000-150868400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:150868000-150868400	Enhancers	NH-A	brain
10	chr1:150868000-150868400	Enhancers	Osteobl	bone
11	chr1:150868000-150868600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:150868000-150868600	Enhancers	Brain Hippocampus Middle	brain
13	chr1:150868000-150868600	Enhancers	Placenta	Placenta
14	chr1:150868000-150868600	Enhancers	HSMMtube	muscle
15	chr1:150868000-150868800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:150868200-150868600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:150868200-150868600	Enhancers	Brain Substantia Nigra	brain
18	chr1:150868200-150868600	Enhancers	A549	lung
19	chr1:150868200-150868600	Enhancers	NHDF-Ad	bronchial

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