Variant report

Variant	rs56401515
Chromosome Location	chr7:128025549-128025550
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127989735..127992397-chr7:128023905..128026447,2	K562	blood:
2	chr7:127987745..127988284-chr7:128025488..128026141,2	K562	blood:
3	chr7:127985149..127987590-chr7:128025548..128027554,2	MCF-7	breast:
4	chr7:128021054..128023079-chr7:128023371..128025635,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13221784	0.84[AFR][1000 genomes]
rs2278294	0.84[EUR][1000 genomes]
rs7802305	0.82[AFR][1000 genomes]

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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs56401515	METTL2A,METTL2B	cis	brain	BrainEAC
rs56401515	IMPDH1	cis	Adipose Subcutaneous	GTEx
rs56401515	RP11-274B21.1	cis	Adipose Subcutaneous	GTEx
rs56401515	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128002400-128044400	Weak transcription	Right Atrium	heart
2	chr7:128021000-128032200	Weak transcription	Colonic Mucosa	Colon
3	chr7:128021400-128031200	Weak transcription	Lung	lung
4	chr7:128021600-128031600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:128021800-128025600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr7:128021800-128026600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:128021800-128031200	Weak transcription	A549	lung
8	chr7:128021800-128032600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:128022000-128027400	Weak transcription	Adipose Nuclei	Adipose
10	chr7:128022000-128027600	Weak transcription	Spleen	Spleen
11	chr7:128023000-128026800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:128023000-128027600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:128023200-128027000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:128023200-128028000	Weak transcription	K562	blood
15	chr7:128023400-128027000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:128024200-128025800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:128024200-128026600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:128024200-128027400	Weak transcription	HSMM	muscle
19	chr7:128024200-128027600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:128024200-128029800	Weak transcription	Esophagus	oesophagus
21	chr7:128024200-128034600	Weak transcription	HMEC	breast
22	chr7:128024400-128027200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:128024400-128027200	Weak transcription	Hela-S3	cervix
24	chr7:128024600-128026000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:128024600-128026600	Weak transcription	Brain Germinal Matrix	brain
26	chr7:128024600-128027200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr7:128024600-128027400	Weak transcription	HSMMtube	muscle
28	chr7:128024600-128027600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:128024600-128031800	Weak transcription	Aorta	Aorta
30	chr7:128025000-128027200	Weak transcription	Fetal Muscle Leg	muscle
31	chr7:128025200-128028200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:128025400-128027800	Weak transcription	Primary hematopoietic stem cells	blood

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