Variant report

Variant	rs55667068
Chromosome Location	chr7:127980173-127980174
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127978973..127980473-chr7:128029523..128031461,2	MCF-7	breast:
2	chr7:127224772..127227118-chr7:127979965..127981666,2	K562	blood:

Variant related genes	Relation type
ENSG00000179562	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11069	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17151981	0.93[AFR][1000 genomes]
rs17151983	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151987	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151996	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17152000	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17152002	1.00[EUR][1000 genomes]
rs17152005	0.98[AFR][1000 genomes]
rs2402890	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41281728	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41281731	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55913412	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56007906	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56177738	0.98[AFR][1000 genomes]
rs6467170	0.98[EUR][1000 genomes]
rs6467174	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6952533	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6980001	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6980301	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs723627	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73228315	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73230631	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230632	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230633	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230649	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230652	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230654	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230656	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230657	0.98[EUR][1000 genomes]
rs73230659	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73721355	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73721356	0.93[AFR][1000 genomes]
rs73721362	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73721363	0.98[AFR][1000 genomes]
rs73721364	0.98[AFR][1000 genomes]
rs7800186	0.98[EUR][1000 genomes]
rs7804796	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127939600-127982200	Weak transcription	Stomach Mucosa	stomach
2	chr7:127940000-127980800	Strong transcription	Fetal Muscle Trunk	muscle
3	chr7:127942000-127980400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:127942000-127980600	Strong transcription	Fetal Muscle Leg	muscle
5	chr7:127943000-127981200	Strong transcription	Dnd41	blood
6	chr7:127943000-127982000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:127943200-127980400	Strong transcription	Duodenum Mucosa	Duodenum
8	chr7:127943200-127981600	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:127943400-127981400	Strong transcription	Primary B cells from peripheral blood	blood
10	chr7:127943400-127981600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:127944400-127980200	Strong transcription	Placenta	Placenta
12	chr7:127944400-127980600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr7:127953800-127982600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:127955800-127982800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:127958000-127980600	Strong transcription	K562	blood
16	chr7:127962200-127980600	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr7:127962400-127980200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr7:127963000-127980400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:127963400-127981200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:127963800-127980600	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr7:127964600-127981000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr7:127964600-127981200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr7:127970000-127980600	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:127970200-127981400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:127970600-127981400	Strong transcription	Primary T cells from cord blood	blood
26	chr7:127972200-127980600	Strong transcription	Left Ventricle	heart
27	chr7:127972400-127982000	Weak transcription	Right Atrium	heart
28	chr7:127974200-127982200	Weak transcription	Fetal Heart	heart
29	chr7:127974400-127980200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:127974400-127982200	Weak transcription	NHLF	lung
31	chr7:127976000-127982800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:127976600-127982400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:127977000-127982400	Weak transcription	Colonic Mucosa	Colon
34	chr7:127977200-127981200	Strong transcription	NHEK	skin
35	chr7:127977200-127982000	Weak transcription	Fetal Kidney	kidney
36	chr7:127977200-127982800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:127977400-127981400	Weak transcription	Aorta	Aorta
38	chr7:127977400-127982000	Weak transcription	Fetal Brain Male	brain
39	chr7:127977400-127982000	Weak transcription	Gastric	stomach
40	chr7:127977400-127982000	Weak transcription	Ovary	ovary
41	chr7:127977400-127982200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:127977400-127982400	Weak transcription	Esophagus	oesophagus
43	chr7:127977400-127982400	Weak transcription	Spleen	Spleen
44	chr7:127977600-127983200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr7:127977800-127981400	Strong transcription	Primary hematopoietic stem cells	blood
46	chr7:127978000-127982400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:127978400-127982000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:127978600-127981400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr7:127978600-127981600	Weak transcription	Fetal Stomach	stomach
50	chr7:127978600-127982000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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