Variant report

Variant	rs62022314
Chromosome Location	chr15:42754649-42754650
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11635041	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11638666	0.89[EUR][1000 genomes]
rs12440118	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16973265	0.93[EUR][1000 genomes]
rs17709596	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2595938	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60569090	0.84[EUR][1000 genomes]
rs61115119	0.85[EUR][1000 genomes]
rs62022308	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62022310	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62022313	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62022315	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62022316	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62022318	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72707484	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8036544	0.94[EUR][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	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

No data

Chromatin state (count:120 , 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	chr15:42720400-42759200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:42737200-42764800	Weak transcription	A549	lung
4	chr15:42744000-42757400	Weak transcription	Gastric	stomach
5	chr15:42744000-42757600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr15:42744200-42755000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:42744200-42755200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr15:42744200-42755200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:42744200-42755600	Weak transcription	Spleen	Spleen
10	chr15:42744200-42756800	Weak transcription	Dnd41	blood
11	chr15:42744200-42757000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr15:42744200-42757400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr15:42744200-42757400	Weak transcription	HepG2	liver
14	chr15:42744200-42757600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr15:42744200-42762200	Weak transcription	K562	blood
16	chr15:42744200-42763200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr15:42744200-42767000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr15:42744200-42781800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr15:42744200-42782400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr15:42746800-42755600	Weak transcription	Hela-S3	cervix
21	chr15:42747200-42755000	Weak transcription	Fetal Intestine Small	intestine
22	chr15:42747200-42755200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr15:42749200-42761800	Weak transcription	Brain Germinal Matrix	brain
24	chr15:42749600-42764600	Weak transcription	Colonic Mucosa	Colon
25	chr15:42749800-42755400	Weak transcription	Lung	lung
26	chr15:42749800-42756600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr15:42749800-42757400	Weak transcription	Placenta	Placenta
28	chr15:42749800-42758000	Weak transcription	Pancreas	Pancrea
29	chr15:42750000-42755600	Weak transcription	Esophagus	oesophagus
30	chr15:42750000-42782600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr15:42750200-42756000	Weak transcription	Primary T cells from cord blood	blood
32	chr15:42750200-42763600	Weak transcription	Right Atrium	heart
33	chr15:42750200-42766400	Weak transcription	Right Ventricle	heart
34	chr15:42750200-42782400	Weak transcription	Aorta	Aorta
35	chr15:42750400-42755000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr15:42750400-42755600	Weak transcription	Brain Anterior Caudate	brain
37	chr15:42750400-42756800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr15:42750400-42757200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr15:42750400-42757200	Weak transcription	Fetal Brain Female	brain
40	chr15:42750400-42761600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr15:42750400-42762800	Weak transcription	HMEC	breast
42	chr15:42750400-42765000	Weak transcription	Fetal Brain Male	brain
43	chr15:42750600-42755000	Weak transcription	Liver	Liver
44	chr15:42750600-42755400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:42750600-42755600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:42750600-42756600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr15:42750600-42756600	Weak transcription	NHEK	skin
48	chr15:42750600-42756800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:42750600-42756800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr15:42750600-42756800	Weak transcription	Rectal Mucosa Donor 29	rectum

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