Variant report

Variant	rs2869384
Chromosome Location	chr4:86686764-86686765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10012090	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10516755	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11724267	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11732231	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11736641	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11937419	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13102580	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13105921	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13111293	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13111662	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13112030	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13113783	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13127274	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13137008	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13150566	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1482093	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1482094	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17010755	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17010812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010816	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010847	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2062097	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2062098	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2198328	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2601855	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2601860	0.93[ASN][1000 genomes]
rs2601861	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2624021	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28490560	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2869377	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2869379	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2869380	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs343849	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs343854	0.89[AFR][1000 genomes]
rs343856	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs343860	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34422670	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34949750	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41527748	0.93[ASN][1000 genomes]
rs4302455	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4507354	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6813799	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7658797	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7660252	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7660702	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7677114	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7692808	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs994285	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[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	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv879517	chr4:86677107-86739805	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86663400-86699800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:86676800-86697800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr4:86682000-86697000	Weak transcription	Psoas Muscle	Psoas
4	chr4:86683200-86699000	Weak transcription	Primary B cells from cord blood	blood
5	chr4:86683800-86695200	Weak transcription	HMEC	breast
6	chr4:86684000-86688600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:86684400-86687600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr4:86684600-86687200	Enhancers	HUVEC	blood vessel
9	chr4:86684600-86687600	Weak transcription	Adipose Nuclei	Adipose
10	chr4:86684600-86695800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr4:86684800-86687000	Weak transcription	Right Atrium	heart
12	chr4:86684800-86688600	Weak transcription	Fetal Stomach	stomach
13	chr4:86684800-86695200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:86684800-86705600	Weak transcription	Small Intestine	intestine
15	chr4:86685200-86687200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:86685800-86687400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr4:86685800-86688600	Enhancers	Fetal Kidney	kidney
18	chr4:86686000-86687400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr4:86686200-86687600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:86686200-86688400	Weak transcription	Fetal Lung	lung
21	chr4:86686200-86695000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:86686400-86686800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:86686400-86687400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:86686600-86687000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:86686600-86687600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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