Variant report

Variant	rs334154
Chromosome Location	chr2:128249209-128249210
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:128244656..128249813-chr2:128251598..128254709,4	K562	blood:
2	chr2:128248313..128249963-chr2:128250526..128253309,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1019842	0.88[EUR][1000 genomes]
rs17261845	0.88[AMR][1000 genomes]
rs17261859	0.91[AMR][1000 genomes]
rs1864552	0.89[EUR][1000 genomes]
rs1864554	0.94[EUR][1000 genomes]
rs2052954	0.89[EUR][1000 genomes]
rs2099210	0.89[EUR][1000 genomes]
rs2163348	0.89[EUR][1000 genomes]
rs2460106	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2679409	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs334137	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs334138	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs334143	0.98[EUR][1000 genomes]
rs334144	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs334146	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs334151	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs334152	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs334156	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs334157	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs334158	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs334159	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs334160	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3893897	0.89[EUR][1000 genomes]
rs7582598	0.88[EUR][1000 genomes]
rs7592490	0.86[EUR][1000 genomes]
rs777554	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs777569	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9287540	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875014	chr2:128178415-128328375	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128223600-128268800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:128229000-128257000	Weak transcription	Stomach Mucosa	stomach
3	chr2:128235200-128270000	Strong transcription	Dnd41	blood
4	chr2:128237400-128252400	Strong transcription	Fetal Muscle Trunk	muscle
5	chr2:128237400-128262400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:128237600-128251400	Strong transcription	Rectal Smooth Muscle	rectum
7	chr2:128237600-128252200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:128237600-128252200	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:128237600-128255000	Strong transcription	Fetal Muscle Leg	muscle
10	chr2:128237600-128255200	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr2:128237600-128255400	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:128237600-128256000	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:128237600-128256200	Strong transcription	HepG2	liver
14	chr2:128237600-128263200	Strong transcription	Adipose Nuclei	Adipose
15	chr2:128237600-128263200	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr2:128237600-128263400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:128237600-128263400	Strong transcription	Fetal Thymus	thymus
18	chr2:128237800-128252400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:128237800-128252400	Strong transcription	Left Ventricle	heart
20	chr2:128237800-128252400	Strong transcription	GM12878-XiMat	blood
21	chr2:128237800-128254400	Strong transcription	Brain Substantia Nigra	brain
22	chr2:128237800-128254600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:128237800-128255800	Strong transcription	Stomach Smooth Muscle	stomach
24	chr2:128237800-128263200	Strong transcription	Liver	Liver
25	chr2:128237800-128263200	Strong transcription	HUVEC	blood vessel
26	chr2:128237800-128263400	Strong transcription	Placenta	Placenta
27	chr2:128238400-128255200	Strong transcription	K562	blood
28	chr2:128238400-128262400	Strong transcription	NH-A	brain
29	chr2:128238800-128260400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr2:128239200-128263400	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr2:128239200-128264800	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:128239400-128252400	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr2:128239400-128255400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:128239400-128256200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:128239400-128264400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:128239400-128266200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:128239400-128266400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:128239800-128261800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:128240000-128263400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:128240200-128263600	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:128240400-128263800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:128240600-128265600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:128241000-128263200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:128241600-128253800	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:128241600-128254800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:128241800-128254600	Strong transcription	HSMMtube	muscle
47	chr2:128242000-128251800	Strong transcription	A549	lung
48	chr2:128242000-128251800	Strong transcription	NHLF	lung
49	chr2:128242000-128253800	Strong transcription	Fetal Lung	lung
50	chr2:128242000-128254200	Strong transcription	Muscle Satellite Cultured Cells	--

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