Variant report

Variant	rs28387114
Chromosome Location	chr2:127425690-127425691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11692939	1.00[ASN][1000 genomes]
rs17690541	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17690564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17741574	1.00[ASN][1000 genomes]
rs28387109	0.95[ASN][1000 genomes]
rs28387125	0.97[ASN][1000 genomes]
rs28387126	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28387130	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[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	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583011	chr2:127386211-127489031	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv875001	chr2:127402833-127431312	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1813823	chr2:127417657-127441005	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127415200-127428000	Weak transcription	Gastric	stomach
2	chr2:127416200-127429000	Weak transcription	Fetal Intestine Small	intestine
3	chr2:127416200-127430000	Weak transcription	Fetal Intestine Large	intestine
4	chr2:127416200-127430200	Weak transcription	Aorta	Aorta
5	chr2:127417200-127433000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:127417200-127443600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:127417800-127426800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:127419000-127426800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:127420600-127430400	Weak transcription	Fetal Lung	lung
10	chr2:127421400-127430200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:127422200-127453400	Weak transcription	Colonic Mucosa	Colon
12	chr2:127422600-127426000	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr2:127422600-127427000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr2:127422600-127427400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr2:127422600-127427600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:127422800-127427800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:127423000-127426400	Genic enhancers	Primary T cells fromperipheralblood	blood
18	chr2:127423200-127426000	Enhancers	Ovary	ovary
19	chr2:127423200-127427800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr2:127423600-127426400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:127423600-127426600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr2:127423600-127427800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:127423600-127428400	Weak transcription	Pancreas	Pancrea
24	chr2:127423800-127427400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:127423800-127427600	Weak transcription	Lung	lung
26	chr2:127423800-127427800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:127423800-127429000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
28	chr2:127423800-127432600	Weak transcription	Thymus	Thymus
29	chr2:127423800-127433200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:127424000-127426000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr2:127424000-127426800	Weak transcription	Psoas Muscle	Psoas
32	chr2:127424000-127427400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:127424000-127427800	Enhancers	Adipose Nuclei	Adipose
34	chr2:127424000-127432800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:127424200-127426200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:127424200-127426400	Genic enhancers	GM12878-XiMat	blood
37	chr2:127424200-127426600	Weak transcription	Fetal Stomach	stomach
38	chr2:127424200-127427400	Weak transcription	Placenta	Placenta
39	chr2:127424200-127431800	Weak transcription	Fetal Thymus	thymus
40	chr2:127424200-127451000	Weak transcription	NHLF	lung
41	chr2:127424400-127432000	Strong transcription	Primary B cells from cord blood	blood
42	chr2:127424600-127425800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:127424600-127425800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:127424600-127426600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr2:127424600-127426800	Weak transcription	Fetal Muscle Leg	muscle
46	chr2:127424600-127426800	Weak transcription	Right Atrium	heart
47	chr2:127424600-127426800	Weak transcription	Right Ventricle	heart
48	chr2:127424600-127427000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:127424600-127427400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr2:127424600-127427400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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