Variant report

Variant	rs7169238
Chromosome Location	chr15:43046679-43046680
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	chr15:43042004..43045508-chr15:43046491..43050155,3	K562	blood:
2	chr15:43038879..43041116-chr15:43044184..43047374,3	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs12323990	0.83[ASN][1000 genomes]
rs12591415	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12592374	0.85[ASN][1000 genomes]
rs12592573	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12594325	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12594378	0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12594600	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12594696	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12594699	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12594724	0.85[ASN][1000 genomes]
rs12594725	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12594765	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12594837	0.83[ASN][1000 genomes]
rs16957055	0.83[ASN][1000 genomes]
rs16957061	0.83[ASN][1000 genomes]
rs16957063	0.85[ASN][1000 genomes]
rs16957120	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs28431056	0.85[ASN][1000 genomes]
rs28437884	0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs28661826	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs28680600	0.81[ASN][1000 genomes]
rs3742992	0.83[ASN][1000 genomes]
rs3742995	0.83[ASN][1000 genomes]
rs4334272	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs56046122	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs58237318	0.83[ASN][1000 genomes]
rs58548142	0.89[AFR][1000 genomes]
rs60723187	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs61747153	0.83[ASN][1000 genomes]
rs7169231	0.96[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs73410923	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs73410927	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs73410931	0.85[ASN][1000 genomes]
rs73410937	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs73410940	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs73410959	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs73410961	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs73410969	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs73410971	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs73410972	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs73410973	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs8028365	0.84[AFR][1000 genomes]
rs8028699	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs8033336	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs8036733	0.83[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	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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43029400-43051200	Weak transcription	Spleen	Spleen
2	chr15:43029800-43047600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:43029800-43047800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:43029800-43050800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:43029800-43051200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:43029800-43051200	Weak transcription	Esophagus	oesophagus
7	chr15:43029800-43051200	Weak transcription	Gastric	stomach
8	chr15:43029800-43051400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr15:43029800-43071000	Weak transcription	Pancreas	Pancrea
10	chr15:43030000-43047800	Weak transcription	HMEC	breast
11	chr15:43030000-43051000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr15:43030000-43051400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr15:43030000-43051600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr15:43030000-43053200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:43030000-43053200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr15:43030000-43053800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr15:43030000-43066200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr15:43030000-43067200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr15:43030000-43093600	Weak transcription	Colonic Mucosa	Colon
20	chr15:43030200-43052800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr15:43038200-43055200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr15:43038400-43051200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr15:43038400-43051200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:43038400-43067400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:43041800-43051000	Weak transcription	Psoas Muscle	Psoas
26	chr15:43044200-43051000	Weak transcription	Fetal Intestine Small	intestine
27	chr15:43044400-43050800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:43044400-43051200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr15:43044600-43047400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:43044600-43056000	Weak transcription	Fetal Lung	lung
31	chr15:43044800-43047000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr15:43044800-43047200	Weak transcription	HepG2	liver
33	chr15:43044800-43052800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr15:43044800-43053000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr15:43044800-43053000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr15:43044800-43053200	Weak transcription	Osteobl	bone
37	chr15:43044800-43053600	Weak transcription	Aorta	Aorta
38	chr15:43044800-43054200	Weak transcription	Fetal Brain Male	brain
39	chr15:43044800-43066400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:43045000-43046800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr15:43045000-43046800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr15:43045000-43047200	Weak transcription	NHDF-Ad	bronchial
43	chr15:43045000-43065600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr15:43045200-43047000	Weak transcription	Fetal Thymus	thymus
45	chr15:43045200-43051000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr15:43045200-43051600	Weak transcription	Fetal Brain Female	brain
47	chr15:43045400-43047200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr15:43045400-43047400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr15:43045400-43047400	Weak transcription	Adipose Nuclei	Adipose
50	chr15:43045400-43047600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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