Variant report

Variant	rs41317507
Chromosome Location	chr1:186134246-186134247
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186123425..186125569-chr1:186132539..186134337,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10489752	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11803845	0.90[ASN][1000 genomes]
rs11808677	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11809665	1.00[EUR][1000 genomes]
rs11811575	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16824945	0.94[EUR][1000 genomes]
rs16825022	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16825024	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35594835	0.90[ASN][1000 genomes]
rs58758627	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59091582	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59379268	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658106	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6672327	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72707450	0.94[EUR][1000 genomes]
rs72707466	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72707470	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74136042	1.00[ASN][1000 genomes]
rs7527214	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7552194	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186046400-186135200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:186113800-186135800	Weak transcription	Ovary	ovary
3	chr1:186114600-186160800	Weak transcription	Fetal Kidney	kidney
4	chr1:186115400-186135400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:186116400-186135400	Weak transcription	Aorta	Aorta
6	chr1:186116600-186135400	Weak transcription	Lung	lung
7	chr1:186117200-186135800	Weak transcription	Fetal Lung	lung
8	chr1:186120000-186135200	Weak transcription	Liver	Liver
9	chr1:186122200-186135600	Weak transcription	K562	blood
10	chr1:186133000-186134400	Weak transcription	NH-A	brain
11	chr1:186133200-186137400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:186133600-186160800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:186133800-186134800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:186133800-186135000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:186133800-186135000	Enhancers	HMEC	breast
16	chr1:186133800-186147800	Weak transcription	Left Ventricle	heart
17	chr1:186134000-186134400	Enhancers	A549	lung
18	chr1:186134000-186134600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:186134000-186134800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:186134000-186134800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:186134000-186134800	Enhancers	NHEK	skin
22	chr1:186134000-186135000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:186134000-186135000	Enhancers	Osteobl	bone
24	chr1:186134000-186137200	Strong transcription	Adipose Nuclei	Adipose
25	chr1:186134200-186134600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:186134200-186134800	Enhancers	HepG2	liver

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