Variant report

Variant	rs8039346
Chromosome Location	chr15:42987070-42987071
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42985508..42988057-chr15:43016423..43018014,2	K562	blood:
2	chr15:42983652..42985690-chr15:42986702..42989327,2	K562	blood:

Variant related genes	Relation type
ENSG00000140326	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10220718	1.00[JPT][hapmap]
rs10220875	1.00[JPT][hapmap]
rs10438302	1.00[JPT][hapmap]
rs11070381	1.00[JPT][hapmap]
rs1317628	1.00[JPT][hapmap]
rs13380301	1.00[JPT][hapmap]
rs16957043	0.81[JPT][hapmap]
rs16957125	1.00[JPT][hapmap]
rs16957138	1.00[JPT][hapmap]
rs16957178	1.00[JPT][hapmap]
rs16957187	0.90[JPT][hapmap]
rs16957224	1.00[JPT][hapmap]
rs1915243	0.90[JPT][hapmap]
rs28537072	0.94[ASN][1000 genomes]
rs57460884	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59900882	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61192504	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61753412	0.90[AMR][1000 genomes]
rs7162040	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7163324	1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7165249	1.00[JPT][hapmap]
rs7174661	1.00[JPT][hapmap]
rs7177501	1.00[JPT][hapmap]
rs8027319	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs8032994	1.00[JPT][hapmap]
rs8039217	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8039438	1.00[JPT][hapmap]
rs8043143	0.81[JPT][hapmap]

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	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv457122	chr15:42948862-43062548	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv569238	chr15:42948862-43062548	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv517553	chr15:42970899-43023482	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42908800-43015000	Weak transcription	Fetal Kidney	kidney
2	chr15:42949800-42999200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr15:42950400-42990200	Strong transcription	Fetal Stomach	stomach
4	chr15:42951000-42995000	Strong transcription	Fetal Muscle Trunk	muscle
5	chr15:42952600-42995600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:42952800-42996000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:42953400-42992200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:42955000-42990200	Strong transcription	Fetal Muscle Leg	muscle
9	chr15:42961200-42989200	Strong transcription	Ovary	ovary
10	chr15:42961400-42990800	Strong transcription	Colon Smooth Muscle	Colon
11	chr15:42961600-42989200	Weak transcription	Pancreas	Pancrea
12	chr15:42966000-42992800	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr15:42966400-42988400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:42966400-42988600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr15:42966600-42988000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:42966600-42989200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr15:42966800-42987600	Strong transcription	Aorta	Aorta
18	chr15:42968400-42992200	Weak transcription	Fetal Brain Male	brain
19	chr15:42968600-42996800	Weak transcription	Liver	Liver
20	chr15:42968600-42999000	Weak transcription	HUVEC	blood vessel
21	chr15:42969400-42988400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:42970600-42990200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:42971400-42992600	Strong transcription	Adipose Nuclei	Adipose
24	chr15:42971600-42992400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:42973200-42991200	Strong transcription	Brain Germinal Matrix	brain
26	chr15:42973400-42987600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr15:42973600-42988400	Strong transcription	Lung	lung
28	chr15:42973600-42989000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr15:42973600-42992600	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr15:42974400-42989200	Strong transcription	Left Ventricle	heart
31	chr15:42975600-43011400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:42976600-42989000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:42976600-42990400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr15:42976600-42992200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr15:42976600-42996800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr15:42976600-43015200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr15:42977000-42999400	Weak transcription	HepG2	liver
38	chr15:42977000-43011600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr15:42977000-43016600	Weak transcription	Hela-S3	cervix
40	chr15:42977600-42988000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr15:42978200-42989600	Weak transcription	Gastric	stomach
42	chr15:42978200-42989800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr15:42978200-42996800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr15:42978200-43010400	Weak transcription	Thymus	Thymus
45	chr15:42978400-42991000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr15:42978600-42992400	Weak transcription	Small Intestine	intestine
47	chr15:42978800-42988400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr15:42978800-43012000	Weak transcription	NH-A	brain
49	chr15:42979000-42992600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr15:42979200-42992400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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