Variant report

Variant	rs4728106
Chromosome Location	chr7:128024834-128024835
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	chr7:127989735..127992397-chr7:128023905..128026447,2	K562	blood:
2	chr7:128021054..128023079-chr7:128023371..128025635,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10228542	0.88[YRI][hapmap]
rs17152065	0.83[YRI][hapmap]
rs4731449	0.88[YRI][hapmap]
rs6944392	0.83[ASW][hapmap];0.96[LWK][hapmap];0.88[MKK][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes]
rs732831	0.85[ASW][hapmap];0.95[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7784120	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv608400	chr7:127978820-128048194	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	esv2493565	chr7:127985695-128053377	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3478325	chr7:127986726-128053483	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv3478326	chr7:127986726-128053483	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4728106	METTL2B	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128002400-128044400	Weak transcription	Right Atrium	heart
2	chr7:128018600-128025000	Enhancers	Fetal Muscle Leg	muscle
3	chr7:128020000-128025200	Enhancers	Fetal Thymus	thymus
4	chr7:128021000-128032200	Weak transcription	Colonic Mucosa	Colon
5	chr7:128021400-128031200	Weak transcription	Lung	lung
6	chr7:128021600-128031600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:128021800-128025600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:128021800-128026600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:128021800-128031200	Weak transcription	A549	lung
10	chr7:128021800-128032600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:128022000-128027400	Weak transcription	Adipose Nuclei	Adipose
12	chr7:128022000-128027600	Weak transcription	Spleen	Spleen
13	chr7:128023000-128026800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:128023000-128027600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr7:128023200-128027000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:128023200-128028000	Weak transcription	K562	blood
17	chr7:128023400-128027000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:128024200-128025800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:128024200-128026600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:128024200-128027400	Weak transcription	HSMM	muscle
21	chr7:128024200-128027600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr7:128024200-128029800	Weak transcription	Esophagus	oesophagus
23	chr7:128024200-128034600	Weak transcription	HMEC	breast
24	chr7:128024400-128027200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:128024400-128027200	Weak transcription	Hela-S3	cervix
26	chr7:128024600-128025200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr7:128024600-128025400	Enhancers	Primary hematopoietic stem cells	blood
28	chr7:128024600-128026000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:128024600-128026600	Weak transcription	Brain Germinal Matrix	brain
30	chr7:128024600-128027200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr7:128024600-128027400	Weak transcription	HSMMtube	muscle
32	chr7:128024600-128027600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:128024600-128031800	Weak transcription	Aorta	Aorta

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