Variant report

Variant	rs61027608
Chromosome Location	chr12:4725625-4725626
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	chr12:4724909..4726859-chr12:4756521..4758491,2	K562	blood:
2	chr12:4717083..4718773-chr12:4723734..4726455,2	K562	blood:

Variant related genes	Relation type
ENSG00000139180	Chromatin interaction
ENSG00000111254	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11063266	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11610298	0.89[ASN][1000 genomes]
rs11614450	0.89[ASN][1000 genomes]
rs12580262	0.89[ASN][1000 genomes]
rs12580572	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2286574	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2302249	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2302250	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2302251	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34047542	0.89[ASN][1000 genomes]
rs3741927	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3753146	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3815359	1.00[EUR][1000 genomes]
rs56731247	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58050359	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60680748	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61909962	0.85[ASN][1000 genomes]
rs66659476	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7133130	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7137549	0.89[ASN][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	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv898617	chr12:4715082-4768619	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4714400-4726400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:4714600-4726200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:4714600-4726800	Weak transcription	Right Ventricle	heart
4	chr12:4714800-4725800	Weak transcription	Fetal Brain Male	brain
5	chr12:4714800-4726600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:4715200-4726400	Weak transcription	Fetal Heart	heart
7	chr12:4716000-4726400	Weak transcription	HUVEC	blood vessel
8	chr12:4716000-4726400	Weak transcription	NHDF-Ad	bronchial
9	chr12:4716400-4726400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:4716400-4727200	Weak transcription	HepG2	liver
11	chr12:4717000-4725800	Strong transcription	Primary B cells from cord blood	blood
12	chr12:4719200-4726000	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:4720400-4726600	Weak transcription	NHEK	skin
14	chr12:4721200-4727200	Weak transcription	Psoas Muscle	Psoas
15	chr12:4722800-4725800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:4723200-4726600	Weak transcription	Placenta	Placenta
17	chr12:4723200-4726600	Weak transcription	Small Intestine	intestine
18	chr12:4723400-4726200	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:4723400-4726800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:4723600-4725800	Weak transcription	HSMM	muscle
21	chr12:4723600-4726400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:4723600-4726800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:4723600-4726800	Weak transcription	Fetal Stomach	stomach
24	chr12:4723600-4727000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:4723600-4727200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:4723600-4728200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:4723600-4735600	Weak transcription	HMEC	breast
28	chr12:4723800-4725800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:4723800-4725800	Weak transcription	Fetal Kidney	kidney
30	chr12:4723800-4726800	Weak transcription	Thymus	Thymus
31	chr12:4723800-4727000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr12:4723800-4727400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:4723800-4728000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr12:4723800-4728600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:4723800-4732000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:4724000-4727000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:4724000-4727000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr12:4724000-4727200	Weak transcription	Brain Germinal Matrix	brain
39	chr12:4724200-4726600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:4724200-4726800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:4724200-4726800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr12:4724200-4727400	Weak transcription	Fetal Thymus	thymus
43	chr12:4724200-4735600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:4724200-4756800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:4724400-4726000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr12:4724400-4726600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr12:4724400-4727200	Weak transcription	Osteobl	bone
48	chr12:4724400-4727600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:4724600-4726800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr12:4724800-4726400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links