Variant report

Variant	rs4447870
Chromosome Location	chr4:99449378-99449379
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	chr4:99441293..99445376-chr4:99447706..99451023,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10002696	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10006366	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10006430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10025051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097619	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13108940	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13123700	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1528547	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1534554	0.81[ASN][1000 genomes]
rs1573478	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1919210	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2037832	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28886705	0.85[ASN][1000 genomes]
rs4699343	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4699344	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4699345	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4699348	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4699639	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4699640	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4699644	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4699646	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4699648	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6815038	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6823547	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6837359	0.84[EUR][1000 genomes]
rs6847124	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs71600251	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9760870	0.87[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	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:36 , 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	chr4:99442200-99450600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr4:99444600-99450200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:99445200-99451800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:99445200-99461800	Weak transcription	HMEC	breast
7	chr4:99445400-99465400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:99445600-99449800	Weak transcription	NHLF	lung
9	chr4:99445600-99450000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr4:99445600-99450200	Weak transcription	Gastric	stomach
11	chr4:99445800-99450000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr4:99446000-99449800	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:99446000-99467400	Weak transcription	Fetal Stomach	stomach
14	chr4:99446600-99450200	Weak transcription	NH-A	brain
15	chr4:99446800-99449800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:99446800-99451200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:99446800-99457400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:99446800-99461600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:99447400-99449400	Enhancers	Fetal Brain Female	brain
20	chr4:99447400-99450200	Enhancers	Brain Hippocampus Middle	brain
21	chr4:99447800-99450400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr4:99448200-99450200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr4:99448200-99461000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:99448400-99450200	Enhancers	Brain Angular Gyrus	brain
25	chr4:99448400-99450400	Enhancers	NHDF-Ad	bronchial
26	chr4:99448600-99449400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:99448600-99449600	Enhancers	Osteobl	bone
28	chr4:99448800-99449400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:99448800-99449400	Enhancers	Brain Cingulate Gyrus	brain
30	chr4:99448800-99449400	Flanking Active TSS	Ovary	ovary
31	chr4:99448800-99449800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:99448800-99450000	Enhancers	Brain Anterior Caudate	brain
33	chr4:99448800-99451800	Enhancers	Brain Substantia Nigra	brain
34	chr4:99449000-99449400	Enhancers	NHEK	skin
35	chr4:99449200-99450000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:99449200-99450400	Weak transcription	HSMM	muscle

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