Variant report

Variant	rs2402892
Chromosome Location	chr7:128021629-128021630
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128021304..128021927-chr7:128035468..128035977,2	K562	blood:
2	chr7:128001106..128003195-chr7:128020192..128022783,2	MCF-7	breast:
3	chr7:127988066..127990303-chr7:128019597..128021947,2	MCF-7	breast:
4	chr7:128021316..128023061-chr7:128045344..128046900,2	MCF-7	breast:
5	chr7:128020879..128021848-chr7:128065540..128066113,3	K562	blood:
6	chr7:128021054..128023079-chr7:128023371..128025635,2	K562	blood:

Variant related genes	Relation type
ENSG00000106348	Chromatin interaction
ENSG00000224940	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1035971	0.95[CEU][hapmap];0.92[TSI][hapmap]
rs1077322	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11980741	0.88[TSI][hapmap]
rs1560214	0.88[TSI][hapmap]
rs2288548	0.88[TSI][hapmap]
rs2288549	0.91[TSI][hapmap]
rs2562730	0.85[TSI][hapmap]
rs3793165	0.90[EUR][1000 genomes]
rs4728108	0.88[TSI][hapmap]
rs4731448	0.82[TSI][hapmap]
rs4731453	0.88[TSI][hapmap]
rs4731454	0.88[TSI][hapmap]
rs885343	0.83[AMR][1000 genomes];0.85[EUR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2402892	PRRT4	cis	Esophagus Mucosa	GTEx

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128002400-128044400	Weak transcription	Right Atrium	heart
2	chr7:128006800-128023400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:128018400-128024400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:128018600-128025000	Enhancers	Fetal Muscle Leg	muscle
5	chr7:128018800-128021800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:128018800-128024600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr7:128019000-128023400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:128019000-128024600	Enhancers	Fetal Muscle Trunk	muscle
9	chr7:128019200-128024200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:128019200-128024600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:128019400-128024600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:128019600-128022400	Enhancers	HSMMtube	muscle
13	chr7:128020000-128022400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:128020000-128023200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:128020000-128024200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:128020000-128025200	Enhancers	Fetal Thymus	thymus
17	chr7:128020400-128022000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr7:128020600-128021800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr7:128020600-128021800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr7:128020600-128023000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr7:128020600-128023000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr7:128020800-128021800	Enhancers	Placenta	Placenta
23	chr7:128020800-128022000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr7:128020800-128022000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:128020800-128022000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr7:128020800-128024200	Enhancers	Esophagus	oesophagus
27	chr7:128021000-128021800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:128021000-128022600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:128021000-128023000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr7:128021000-128032200	Weak transcription	Colonic Mucosa	Colon
31	chr7:128021200-128022000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:128021200-128022000	Enhancers	Stomach Mucosa	stomach
33	chr7:128021200-128022000	Enhancers	Spleen	Spleen
34	chr7:128021200-128022000	Enhancers	Hela-S3	cervix
35	chr7:128021200-128022000	Enhancers	HMEC	breast
36	chr7:128021200-128022200	Enhancers	NHEK	skin
37	chr7:128021200-128023000	Weak transcription	Thymus	Thymus
38	chr7:128021200-128024200	Enhancers	HSMM	muscle
39	chr7:128021400-128021800	Enhancers	A549	lung
40	chr7:128021400-128022000	Enhancers	Adipose Nuclei	Adipose
41	chr7:128021400-128022200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr7:128021400-128023200	Enhancers	K562	blood
43	chr7:128021400-128031200	Weak transcription	Lung	lung
44	chr7:128021600-128022000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:128021600-128022400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr7:128021600-128031600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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