Variant report

Variant	rs28387131
Chromosome Location	chr2:127429513-127429514
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12465294	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17014125	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17014131	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17014134	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17014139	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28387169	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4143021	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
6	nsv875007	chr2:127426697-127454230	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv875008	chr2:127426754-127436469	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127416200-127430000	Weak transcription	Fetal Intestine Large	intestine
2	chr2:127416200-127430200	Weak transcription	Aorta	Aorta
3	chr2:127417200-127433000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:127417200-127443600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:127420600-127430400	Weak transcription	Fetal Lung	lung
6	chr2:127421400-127430200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:127422200-127453400	Weak transcription	Colonic Mucosa	Colon
8	chr2:127423800-127432600	Weak transcription	Thymus	Thymus
9	chr2:127423800-127433200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:127424000-127432800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:127424200-127431800	Weak transcription	Fetal Thymus	thymus
12	chr2:127424200-127451000	Weak transcription	NHLF	lung
13	chr2:127424400-127432000	Strong transcription	Primary B cells from cord blood	blood
14	chr2:127424600-127430000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:127424600-127447600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:127425600-127430600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:127425600-127431000	Genic enhancers	K562	blood
18	chr2:127425600-127432600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:127425800-127432400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:127425800-127432600	Strong transcription	Primary T cells from cord blood	blood
21	chr2:127426000-127433000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:127426400-127429600	Strong transcription	Primary hematopoietic stem cells	blood
23	chr2:127426400-127432000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:127426600-127430600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr2:127426800-127429800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr2:127426800-127431600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:127426800-127432000	Weak transcription	GM12878-XiMat	blood
28	chr2:127427000-127430200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:127427000-127430400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:127427000-127430400	Enhancers	Right Ventricle	heart
31	chr2:127427000-127432200	Enhancers	Fetal Heart	heart
32	chr2:127427000-127434600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:127427200-127431400	Genic enhancers	Fetal Muscle Leg	muscle
34	chr2:127427400-127429600	Enhancers	Right Atrium	heart
35	chr2:127427400-127430800	Genic enhancers	Primary T cells fromperipheralblood	blood
36	chr2:127427400-127430800	Enhancers	Psoas Muscle	Psoas
37	chr2:127427400-127431000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:127427400-127432200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr2:127427400-127433000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:127427400-127434200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:127427600-127431600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr2:127427600-127432800	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:127427800-127431000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr2:127427800-127431400	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:127427800-127432200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:127427800-127432800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:127428000-127431000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:127428000-127431200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:127428000-127431400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:127428000-127446400	Weak transcription	NHDF-Ad	bronchial

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