Variant report

Variant	rs8180171
Chromosome Location	chr4:99451680-99451681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99446603..99448154-chr4:99449799..99451915,2	K562	blood:
2	chr4:99445632..99448103-chr4:99449993..99451915,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10030622	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17027701	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28618327	0.96[AMR][1000 genomes]
rs28784902	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4699347	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4699649	0.96[AMR][1000 genomes]
rs4699653	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6532743	0.91[AMR][1000 genomes]
rs6824330	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7691924	0.87[AMR][1000 genomes]
rs9991048	0.86[AMR][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	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99438800-99452000	Enhancers	Fetal Heart	heart
2	chr4:99440400-99458400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:99445200-99451800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:99445200-99461800	Weak transcription	HMEC	breast
5	chr4:99445400-99465400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:99446000-99467400	Weak transcription	Fetal Stomach	stomach
7	chr4:99446800-99457400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:99446800-99461600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:99448200-99461000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:99448800-99451800	Enhancers	Brain Substantia Nigra	brain
11	chr4:99449400-99461200	Weak transcription	NHEK	skin
12	chr4:99449400-99464200	Weak transcription	Fetal Brain Female	brain
13	chr4:99449800-99467400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:99450200-99451800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:99450200-99458400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:99450200-99467400	Weak transcription	Osteobl	bone
17	chr4:99450400-99461800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:99450400-99465200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr4:99450600-99451800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:99450800-99458800	Weak transcription	NHLF	lung
21	chr4:99450800-99468000	Weak transcription	HSMM	muscle
22	chr4:99451200-99451800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:99451200-99451800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:99451200-99452000	Enhancers	Brain Angular Gyrus	brain
25	chr4:99451200-99457000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:99451600-99451800	Enhancers	Brain Cingulate Gyrus	brain
27	chr4:99451600-99458800	Weak transcription	Brain Hippocampus Middle	brain

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