Variant report

Variant	rs28387124
Chromosome Location	chr2:127426979-127426980
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127426536..127429355-chr2:127441115..127443378,3	K562	blood:
2	chr2:127426020..127428369-chr2:127431324..127434102,4	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11694376	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[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:82 , 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	chr2:127420600-127430400	Weak transcription	Fetal Lung	lung
8	chr2:127421400-127430200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:127422200-127453400	Weak transcription	Colonic Mucosa	Colon
10	chr2:127422600-127427000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr2:127422600-127427400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr2:127422600-127427600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:127422800-127427800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:127423200-127427800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr2:127423600-127427800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:127423600-127428400	Weak transcription	Pancreas	Pancrea
17	chr2:127423800-127427400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:127423800-127427600	Weak transcription	Lung	lung
19	chr2:127423800-127427800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:127423800-127429000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
21	chr2:127423800-127432600	Weak transcription	Thymus	Thymus
22	chr2:127423800-127433200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:127424000-127427400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:127424000-127427800	Enhancers	Adipose Nuclei	Adipose
25	chr2:127424000-127432800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:127424200-127427400	Weak transcription	Placenta	Placenta
27	chr2:127424200-127431800	Weak transcription	Fetal Thymus	thymus
28	chr2:127424200-127451000	Weak transcription	NHLF	lung
29	chr2:127424400-127432000	Strong transcription	Primary B cells from cord blood	blood
30	chr2:127424600-127427000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:127424600-127427400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:127424600-127427400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:127424600-127428000	Weak transcription	Esophagus	oesophagus
34	chr2:127424600-127428600	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:127424600-127429200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:127424600-127430000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:127424600-127447600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr2:127424800-127427000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:127424800-127427000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:127424800-127427200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:127424800-127427400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:127424800-127427600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:127424800-127427600	Weak transcription	NHDF-Ad	bronchial
44	chr2:127425000-127427000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:127425000-127427000	Weak transcription	Fetal Heart	heart
46	chr2:127425000-127428000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:127425600-127427400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:127425600-127430600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr2:127425600-127431000	Genic enhancers	K562	blood
50	chr2:127425600-127432600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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