Variant report

Variant	rs8027319
Chromosome Location	chr15:43049788-43049789
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:43029329..43031752-chr15:43048197..43049883,2	K562	blood:
2	chr15:43036520..43038696-chr15:43047355..43050009,2	K562	blood:
3	chr15:43042004..43045508-chr15:43046491..43050155,3	K562	blood:

Variant related genes	Relation type
ENSG00000246283	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10220713	0.89[JPT][hapmap]
rs10220718	1.00[JPT][hapmap]
rs10220875	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs10438302	1.00[JPT][hapmap]
rs11070381	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs12324135	0.81[JPT][hapmap]
rs1317628	1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs13380301	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs16957043	0.81[JPT][hapmap]
rs16957052	1.00[MEX][hapmap]
rs16957125	1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs16957138	1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs16957178	1.00[JPT][hapmap]
rs16957187	1.00[JPT][hapmap]
rs16957224	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs1915243	0.90[JPT][hapmap]
rs28537072	0.82[ASN][1000 genomes]
rs34348991	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57460884	0.87[ASN][1000 genomes]
rs58071203	0.83[AFR][1000 genomes]
rs58423426	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs59900882	0.87[ASN][1000 genomes]
rs60752181	0.85[AFR][1000 genomes]
rs60807675	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61192504	0.87[ASN][1000 genomes]
rs61433348	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6493058	1.00[MEX][hapmap]
rs7162040	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7163324	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[ASN][1000 genomes]
rs7165249	1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs7174661	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs7177501	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs7181448	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs8023743	0.81[JPT][hapmap]
rs8032994	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs8039217	1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[ASN][1000 genomes]
rs8039346	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs8039438	1.00[JPT][hapmap];1.00[MEX][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	nsv977054	chr15:43015821-43171355	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS 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	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43029400-43051200	Weak transcription	Spleen	Spleen
2	chr15:43029800-43050800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:43029800-43051200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:43029800-43051200	Weak transcription	Esophagus	oesophagus
5	chr15:43029800-43051200	Weak transcription	Gastric	stomach
6	chr15:43029800-43051400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:43029800-43071000	Weak transcription	Pancreas	Pancrea
8	chr15:43030000-43051000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr15:43030000-43051400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr15:43030000-43051600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr15:43030000-43053200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:43030000-43053200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr15:43030000-43053800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr15:43030000-43066200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr15:43030000-43067200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr15:43030000-43093600	Weak transcription	Colonic Mucosa	Colon
17	chr15:43030200-43052800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr15:43038200-43055200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr15:43038400-43051200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr15:43038400-43051200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr15:43038400-43067400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr15:43041800-43051000	Weak transcription	Psoas Muscle	Psoas
23	chr15:43044200-43051000	Weak transcription	Fetal Intestine Small	intestine
24	chr15:43044400-43050800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:43044400-43051200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:43044600-43056000	Weak transcription	Fetal Lung	lung
27	chr15:43044800-43052800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr15:43044800-43053000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr15:43044800-43053000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr15:43044800-43053200	Weak transcription	Osteobl	bone
31	chr15:43044800-43053600	Weak transcription	Aorta	Aorta
32	chr15:43044800-43054200	Weak transcription	Fetal Brain Male	brain
33	chr15:43044800-43066400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr15:43045000-43065600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr15:43045200-43051000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr15:43045200-43051600	Weak transcription	Fetal Brain Female	brain
37	chr15:43045400-43050800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr15:43045400-43051200	Weak transcription	Lung	lung
39	chr15:43045400-43051400	Weak transcription	Fetal Intestine Large	intestine
40	chr15:43045400-43051400	Weak transcription	HSMMtube	muscle
41	chr15:43045400-43051600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr15:43045400-43051800	Weak transcription	Brain Angular Gyrus	brain
43	chr15:43045400-43052600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr15:43045400-43052800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:43045400-43053000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr15:43045400-43053200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr15:43045400-43062800	Weak transcription	Colon Smooth Muscle	Colon
48	chr15:43045400-43068000	Weak transcription	Fetal Heart	heart
49	chr15:43045600-43051200	Weak transcription	Placenta	Placenta
50	chr15:43045600-43051600	Weak transcription	Brain Germinal Matrix	brain

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