Variant report

Variant	rs73929074
Chromosome Location	chr2:38795678-38795679
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38781681..38785973-chr2:38793517..38796311,3	K562	blood:
2	chr2:38794380..38796930-chr2:38807297..38810319,3	MCF-7	breast:
3	chr2:38776394..38779089-chr2:38793854..38796056,2	MCF-7	breast:
4	chr2:38792229..38796060-chr2:38976249..38979858,4	K562	blood:

Variant related genes	Relation type
ENSG00000115875	Chromatin interaction
ENSG00000152147	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11894300	1.00[AMR][1000 genomes]
rs12105066	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023010	1.00[AMR][1000 genomes]
rs57091543	1.00[AMR][1000 genomes]
rs58185217	0.86[AFR][1000 genomes]
rs59492432	1.00[AMR][1000 genomes]
rs61048190	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73929028	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73929071	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73929083	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73929101	1.00[AMR][1000 genomes]
rs73931607	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7591739	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7605576	0.96[AFR][1000 genomes];1.00[AMR][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	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38763600-38809600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:38768200-38812800	Weak transcription	Psoas Muscle	Psoas
3	chr2:38775800-38821800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:38777000-38807200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:38779000-38818200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:38779400-38821800	Weak transcription	Right Ventricle	heart
7	chr2:38779600-38807400	Weak transcription	Fetal Heart	heart
8	chr2:38779600-38812800	Weak transcription	Aorta	Aorta
9	chr2:38779800-38800200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:38780400-38797200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr2:38781200-38827600	Weak transcription	Esophagus	oesophagus
12	chr2:38781600-38797600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:38782400-38819000	Strong transcription	Fetal Thymus	thymus
14	chr2:38782800-38799000	Strong transcription	HSMM	muscle
15	chr2:38783600-38797600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:38783800-38827800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:38785000-38827600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:38785400-38801400	Weak transcription	GM12878-XiMat	blood
19	chr2:38786000-38827600	Weak transcription	Colonic Mucosa	Colon
20	chr2:38786400-38806200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:38786400-38818800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:38786600-38799000	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr2:38786600-38819000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:38787200-38796600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:38787200-38798400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:38787200-38798800	Strong transcription	Osteobl	bone
27	chr2:38787200-38799200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr2:38787200-38800600	Strong transcription	NHDF-Ad	bronchial
29	chr2:38787200-38802800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr2:38787200-38805600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:38787200-38806200	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:38787200-38807000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:38787200-38807000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:38787400-38798000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:38787400-38799200	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:38787400-38802400	Strong transcription	HepG2	liver
37	chr2:38787400-38804400	Strong transcription	Placenta	Placenta
38	chr2:38787400-38806400	Strong transcription	Dnd41	blood
39	chr2:38787800-38798800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:38789200-38796200	Weak transcription	Brain Hippocampus Middle	brain
41	chr2:38789400-38796000	Weak transcription	NHLF	lung
42	chr2:38789800-38797200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr2:38790600-38796200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:38790600-38796400	Weak transcription	Stomach Mucosa	stomach
45	chr2:38790600-38799200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:38790800-38796000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:38790800-38796000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:38790800-38799200	Strong transcription	NH-A	brain
49	chr2:38790800-38807000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:38791200-38796600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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