Variant report

Variant	rs2595938
Chromosome Location	chr15:42760159-42760160
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11635041	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11635076	0.81[EUR][1000 genomes]
rs11636209	0.81[EUR][1000 genomes]
rs11638666	0.86[EUR][1000 genomes]
rs12440118	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16973265	0.92[EUR][1000 genomes]
rs17709596	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17709867	0.81[EUR][1000 genomes]
rs2244773	1.00[ASN][1000 genomes]
rs2412716	1.00[ASN][1000 genomes]
rs2595935	1.00[ASN][1000 genomes]
rs28602748	0.80[ASN][1000 genomes]
rs28621687	0.80[ASN][1000 genomes]
rs28726153	0.80[ASN][1000 genomes]
rs60569090	0.83[EUR][1000 genomes]
rs61115119	0.84[EUR][1000 genomes]
rs62019280	0.81[EUR][1000 genomes]
rs62019282	0.81[EUR][1000 genomes]
rs62019285	0.81[EUR][1000 genomes]
rs62019287	0.81[EUR][1000 genomes]
rs62022303	0.80[ASN][1000 genomes]
rs62022305	0.80[ASN][1000 genomes]
rs62022308	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62022310	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62022313	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62022314	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62022315	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62022316	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62022318	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72707484	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8036544	0.90[EUR][1000 genomes]
rs8039240	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking 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 miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv832987	chr15:42627447-42792348	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv3334708	chr15:42664344-42827738	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42701200-42766600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr15:42737200-42764800	Weak transcription	A549	lung
3	chr15:42744200-42762200	Weak transcription	K562	blood
4	chr15:42744200-42763200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr15:42744200-42767000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr15:42744200-42781800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr15:42744200-42782400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr15:42749200-42761800	Weak transcription	Brain Germinal Matrix	brain
9	chr15:42749600-42764600	Weak transcription	Colonic Mucosa	Colon
10	chr15:42750000-42782600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:42750200-42763600	Weak transcription	Right Atrium	heart
12	chr15:42750200-42766400	Weak transcription	Right Ventricle	heart
13	chr15:42750200-42782400	Weak transcription	Aorta	Aorta
14	chr15:42750400-42761600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr15:42750400-42762800	Weak transcription	HMEC	breast
16	chr15:42750400-42765000	Weak transcription	Fetal Brain Male	brain
17	chr15:42750600-42760400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:42750600-42761400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr15:42750600-42761400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr15:42750600-42761800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr15:42750600-42763200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr15:42750600-42766800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr15:42750800-42763400	Weak transcription	Psoas Muscle	Psoas
24	chr15:42750800-42764400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr15:42750800-42782400	Weak transcription	Ovary	ovary
26	chr15:42751000-42782400	Weak transcription	Fetal Lung	lung
27	chr15:42753200-42764000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr15:42753600-42764000	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr15:42754200-42763200	Weak transcription	Fetal Heart	heart
30	chr15:42754200-42764600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr15:42754600-42764600	Weak transcription	Small Intestine	intestine
32	chr15:42754600-42782400	Weak transcription	HSMMtube	muscle
33	chr15:42755000-42763600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:42756000-42762800	Weak transcription	HSMM	muscle
35	chr15:42756000-42777600	Weak transcription	Lung	lung
36	chr15:42756000-42782600	Weak transcription	Esophagus	oesophagus
37	chr15:42756200-42782400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr15:42756400-42760200	Strong transcription	Primary B cells from cord blood	blood
39	chr15:42756600-42763600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr15:42757800-42760200	Weak transcription	Fetal Stomach	stomach
41	chr15:42757800-42763200	Weak transcription	Colon Smooth Muscle	Colon
42	chr15:42757800-42782600	Weak transcription	Gastric	stomach
43	chr15:42758000-42764800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr15:42758000-42781600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr15:42758000-42782400	Weak transcription	NHLF	lung
46	chr15:42758200-42761000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr15:42758200-42761000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr15:42758200-42761000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr15:42758200-42761400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:42758200-42763000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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