Variant report

Variant	rs28387108
Chromosome Location	chr2:127422998-127422999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127421256..127423531-chr2:127529484..127531021,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12468957	0.94[ASN][1000 genomes]
rs12692114	0.90[ASN][1000 genomes]
rs28387104	0.92[ASN][1000 genomes]
rs4662685	0.95[ASN][1000 genomes]
rs4663038	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6431170	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv875000	chr2:127402833-127423066	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	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
6	nsv875005	chr2:127414661-127423066	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	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
8	nsv875006	chr2:127418459-127423066	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127415000-127423200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:127415200-127428000	Weak transcription	Gastric	stomach
3	chr2:127415600-127423200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:127415600-127424600	Enhancers	Right Ventricle	heart
5	chr2:127416000-127423600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:127416200-127429000	Weak transcription	Fetal Intestine Small	intestine
7	chr2:127416200-127430000	Weak transcription	Fetal Intestine Large	intestine
8	chr2:127416200-127430200	Weak transcription	Aorta	Aorta
9	chr2:127416600-127425000	Enhancers	Fetal Heart	heart
10	chr2:127416800-127425400	Weak transcription	Small Intestine	intestine
11	chr2:127417000-127423200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:127417000-127423400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:127417000-127424000	Enhancers	Psoas Muscle	Psoas
14	chr2:127417200-127423000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:127417200-127423000	Enhancers	Primary hematopoietic stem cells	blood
16	chr2:127417200-127423400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:127417200-127423800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:127417200-127424000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:127417200-127425000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:127417200-127433000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:127417200-127443600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:127417400-127424000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:127417600-127423400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:127417600-127424600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:127417800-127423400	Weak transcription	HSMM	muscle
26	chr2:127417800-127426800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:127418000-127423200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:127418000-127423200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:127418000-127424200	Genic enhancers	Fetal Stomach	stomach
30	chr2:127418000-127425400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:127418200-127423400	Weak transcription	HSMMtube	muscle
32	chr2:127418200-127423800	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr2:127418200-127423800	Weak transcription	NHLF	lung
34	chr2:127418800-127423400	Enhancers	Duodenum Mucosa	Duodenum
35	chr2:127419000-127424000	Enhancers	Primary B cells from peripheral blood	blood
36	chr2:127419000-127426800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:127419400-127424600	Enhancers	Colon Smooth Muscle	Colon
38	chr2:127419600-127423600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:127420200-127424600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr2:127420600-127423000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:127420600-127424800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr2:127420600-127430400	Weak transcription	Fetal Lung	lung
43	chr2:127420800-127423400	Genic enhancers	Spleen	Spleen
44	chr2:127420800-127423600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:127420800-127424600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:127421000-127423000	Flanking Active TSS	GM12878-XiMat	blood
47	chr2:127421000-127424800	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr2:127421200-127423200	Weak transcription	Placenta	Placenta
49	chr2:127421200-127423400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:127421200-127423600	Genic enhancers	Fetal Muscle Trunk	muscle

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