Variant report

Variant	rs4775123
Chromosome Location	chr15:59481329-59481330
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1032178	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1032179	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1032180	0.85[ASN][1000 genomes]
rs1032181	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11071411	0.86[AMR][1000 genomes]
rs11631844	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11633119	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11633205	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12440243	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12908949	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12912558	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12915115	0.96[ASN][1000 genomes]
rs17302219	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2029212	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2129426	0.82[ASN][1000 genomes]
rs2171286	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242322	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2242323	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2899644	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35227552	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3794496	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3794497	0.86[AMR][1000 genomes]
rs3794498	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4775120	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4775125	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58583822	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62004105	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62004107	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7162863	0.85[ASN][1000 genomes]
rs7178908	0.96[ASN][1000 genomes]
rs7181609	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8041615	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv833025	chr15:59336148-59522176	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1035868	chr15:59402426-59530594	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv833027	chr15:59474806-59608544	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr15:59437800-59484400	Weak transcription	Fetal Brain Male	brain
2	chr15:59454000-59482000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:59464400-59496800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:59467800-59523200	Weak transcription	Fetal Brain Female	brain
5	chr15:59468200-59528600	Weak transcription	Stomach Mucosa	stomach
6	chr15:59468600-59521400	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr15:59468800-59490800	Strong transcription	Duodenum Mucosa	Duodenum
8	chr15:59468800-59492600	Strong transcription	Fetal Intestine Large	intestine
9	chr15:59469000-59482800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:59470000-59482200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:59470800-59485200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr15:59471000-59484000	Weak transcription	Esophagus	oesophagus
13	chr15:59471400-59482200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr15:59473400-59482200	Weak transcription	Spleen	Spleen
15	chr15:59474000-59483400	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr15:59474400-59482400	Weak transcription	HepG2	liver
17	chr15:59474400-59483800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:59474400-59484600	Weak transcription	Colon Smooth Muscle	Colon
19	chr15:59475000-59483000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:59475000-59483000	Strong transcription	NHEK	skin
21	chr15:59475200-59486800	Weak transcription	Pancreas	Pancrea
22	chr15:59475200-59503200	Strong transcription	Liver	Liver
23	chr15:59475400-59485200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:59475800-59483800	Strong transcription	Hela-S3	cervix
25	chr15:59475800-59498200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr15:59475800-59517800	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr15:59476000-59488000	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr15:59476200-59490600	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr15:59476400-59482800	Strong transcription	NHDF-Ad	bronchial
30	chr15:59476600-59482600	Strong transcription	HMEC	breast
31	chr15:59476800-59486400	Weak transcription	Right Ventricle	heart
32	chr15:59477000-59498000	Strong transcription	GM12878-XiMat	blood
33	chr15:59477400-59481600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr15:59477600-59485400	Weak transcription	Small Intestine	intestine
35	chr15:59477800-59486800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr15:59478000-59483000	Strong transcription	HUVEC	blood vessel
37	chr15:59478800-59481600	Weak transcription	HSMMtube	muscle
38	chr15:59478800-59483200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:59478800-59486800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr15:59479200-59482600	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr15:59479200-59483200	Strong transcription	Osteobl	bone
42	chr15:59479400-59482000	Strong transcription	Placenta	Placenta
43	chr15:59479400-59482400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr15:59479400-59483000	Strong transcription	Adipose Nuclei	Adipose
45	chr15:59479400-59487800	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr15:59479400-59488200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr15:59479600-59481400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr15:59479600-59482800	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr15:59479600-59483800	Strong transcription	Fetal Stomach	stomach
50	chr15:59479600-59488400	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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