Variant report

Variant	rs370252
Chromosome Location	chr4:79268692-79268693
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	chr4:79267580..79269981-chr4:79274532..79277748,3	K562	blood:
2	chr4:79267050..79269903-chr4:79274110..79276032,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs17459809	0.96[EUR][1000 genomes]
rs1840388	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs370865	1.00[EUR][1000 genomes]
rs371923	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs373144	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs376809	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs381765	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs386832	1.00[EUR][1000 genomes]
rs395192	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs396790	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs397439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs397449	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs405190	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs410660	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs417796	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs420238	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs423884	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs431812	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs438511	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs441064	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs446773	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs454649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4569782	0.96[EUR][1000 genomes]
rs644235	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs737397	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs931277	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv829978	chr4:79144453-79291868	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv4399	chr4:79251832-79284571	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv508290	chr4:79259152-79277975	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv819290	chr4:79266834-79275538	Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv435786	chr4:79268353-79275254	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3507233	chr4:79268378-79276076	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv990445	chr4:79268459-79275889	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv2446951	chr4:79268477-79275875	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79258000-79275200	Weak transcription	Fetal Brain Female	brain
2	chr4:79258400-79269000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr4:79258800-79276800	Weak transcription	Fetal Kidney	kidney
4	chr4:79258800-79291000	Weak transcription	Fetal Lung	lung
5	chr4:79259200-79275400	Weak transcription	Brain Germinal Matrix	brain
6	chr4:79260800-79281000	Weak transcription	Fetal Intestine Small	intestine
7	chr4:79261000-79275200	Weak transcription	Fetal Intestine Large	intestine
8	chr4:79261400-79287800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:79262800-79277400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:79263000-79282200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:79263400-79283400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:79263600-79281000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:79265200-79275600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:79265600-79277000	Weak transcription	HSMMtube	muscle
15	chr4:79266000-79280600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:79266200-79275600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:79266400-79284400	Weak transcription	HepG2	liver
18	chr4:79266600-79268800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:79266800-79269200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:79266800-79276400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:79267800-79275200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:79268600-79268800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:79268600-79268800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:79268600-79268800	ZNF genes & repeats	Pancreas	Pancrea
25	chr4:79268600-79269200	Enhancers	Fetal Brain Male	brain
26	chr4:79268600-79283200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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