Variant report

Variant	rs2869383
Chromosome Location	chr4:86685562-86685563
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10516752	1.00[MEX][hapmap]
rs11941635	0.81[YRI][hapmap];0.87[AFR][1000 genomes]
rs13108185	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13110649	0.91[LWK][hapmap];0.88[MKK][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs13150113	1.00[MEX][hapmap]
rs1377206	1.00[MEX][hapmap]
rs1452678	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1482097	1.00[MEX][hapmap]
rs1482098	1.00[MEX][hapmap]
rs17010622	1.00[MEX][hapmap]
rs17010756	1.00[MEX][hapmap]
rs2869382	1.00[MEX][hapmap]
rs6812584	0.89[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7682809	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs7684989	1.00[MEX][hapmap]
rs9993320	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][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:30 , 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	chr4:86680400-86685600	Enhancers	Osteobl	bone
4	chr4:86682000-86697000	Weak transcription	Psoas Muscle	Psoas
5	chr4:86683200-86699000	Weak transcription	Primary B cells from cord blood	blood
6	chr4:86683800-86686600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:86683800-86695200	Weak transcription	HMEC	breast
8	chr4:86684000-86685600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:86684000-86685600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:86684000-86685600	Enhancers	NHLF	lung
11	chr4:86684000-86688600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr4:86684200-86685600	Weak transcription	Brain Anterior Caudate	brain
13	chr4:86684200-86685800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:86684400-86685800	Weak transcription	Fetal Kidney	kidney
15	chr4:86684400-86687600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:86684600-86686400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:86684600-86687200	Enhancers	HUVEC	blood vessel
18	chr4:86684600-86687600	Weak transcription	Adipose Nuclei	Adipose
19	chr4:86684600-86695800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr4:86684800-86687000	Weak transcription	Right Atrium	heart
21	chr4:86684800-86688600	Weak transcription	Fetal Stomach	stomach
22	chr4:86684800-86695200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:86684800-86705600	Weak transcription	Small Intestine	intestine
24	chr4:86685000-86685600	Weak transcription	Fetal Lung	lung
25	chr4:86685200-86687200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:86685400-86685600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr4:86685400-86686200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:86685400-86686200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr4:86685400-86686200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr4:86685400-86686600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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