Variant report

Variant	rs7600329
Chromosome Location	chr2:168150965-168150966
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12104788	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12104989	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12616657	0.87[AFR][1000 genomes]
rs16853361	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16853464	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59064569	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6735236	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6753496	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7578183	0.87[AMR][1000 genomes]
rs7600115	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875377	chr2:168084857-168203116	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv3412741	chr2:168148456-168151654	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168148600-168151600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:168148600-168151600	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr2:168148600-168151800	Active TSS	H1 Cell Line	embryonic stem cell
4	chr2:168148600-168151800	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr2:168148600-168151800	Active TSS	Brain Hippocampus Middle	brain
6	chr2:168148600-168151800	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr2:168148600-168151800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:168148600-168151800	Active TSS	NHLF	lung
9	chr2:168148600-168152000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:168148600-168152000	Active TSS	Brain Anterior Caudate	brain
11	chr2:168148600-168152200	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr2:168148800-168151400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:168148800-168151400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:168148800-168151600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr2:168148800-168151600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:168148800-168151600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:168148800-168151600	Active TSS	Brain Substantia Nigra	brain
18	chr2:168148800-168151600	Active TSS	Colon Smooth Muscle	Colon
19	chr2:168148800-168151800	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr2:168148800-168151800	Active TSS	Brain Cingulate Gyrus	brain
21	chr2:168148800-168151800	Active TSS	Fetal Brain Female	brain
22	chr2:168148800-168151800	Active TSS	Rectal Smooth Muscle	rectum
23	chr2:168149000-168151800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:168149000-168151800	Active TSS	Brain Angular Gyrus	brain
25	chr2:168149600-168151400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
26	chr2:168149800-168151200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:168149800-168151200	Flanking Active TSS	Ovary	ovary
28	chr2:168149800-168151200	Flanking Active TSS	Pancreas	Pancrea
29	chr2:168149800-168151400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:168149800-168151400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
31	chr2:168149800-168151400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
32	chr2:168149800-168151800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr2:168150000-168151200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:168150000-168151200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:168150000-168151200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
36	chr2:168150000-168151400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:168150000-168151400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
38	chr2:168150000-168151600	Active TSS	Fetal Brain Male	brain
39	chr2:168150000-168151800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:168150200-168151000	Weak transcription	Aorta	Aorta
41	chr2:168150200-168151000	Enhancers	Spleen	Spleen
42	chr2:168150200-168151000	Bivalent Enhancer	HUVEC	blood vessel
43	chr2:168150200-168151200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr2:168150200-168151200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
45	chr2:168150200-168151200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
46	chr2:168150200-168151400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:168150200-168151400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:168150200-168151400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
49	chr2:168150200-168151400	Bivalent Enhancer	Liver	Liver
50	chr2:168150200-168151400	Enhancers	Gastric	stomach

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