Variant report

Variant	rs34005308
Chromosome Location	chr2:189382844-189382845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr2:189382004-189382867	H1-neurons	neurons:	n/a	n/a
2	STAT3	chr2:189382754-189382925	MCF10A-Er-Src	breast:	n/a	n/a
3	GATA3	chr2:189382462-189383629	SK-N-SH	brain:	n/a	chr2:189382757-189382778
4	GATA3	chr2:189382659-189382900	T-47D	breast:	n/a	chr2:189382757-189382778

Variant related genes	Relation type
GULP1	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12997847	0.82[AMR][1000 genomes]
rs34211564	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72911461	0.94[AFR][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	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv533110	chr2:189354436-189462552	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189329200-189399000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:189344200-189390400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:189361800-189392000	Weak transcription	Ovary	ovary
4	chr2:189371800-189394000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:189377000-189387400	Weak transcription	Fetal Lung	lung
6	chr2:189377400-189383000	Weak transcription	HUVEC	blood vessel
7	chr2:189377800-189383200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:189379400-189383600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:189380000-189383200	Enhancers	Fetal Heart	heart
10	chr2:189380200-189384400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:189381000-189394200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:189381600-189383400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:189381600-189387400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:189382200-189383200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:189382200-189383200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr2:189382200-189383400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:189382200-189383400	Enhancers	Aorta	Aorta
18	chr2:189382200-189383400	Enhancers	Rectal Smooth Muscle	rectum
19	chr2:189382200-189383600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:189382200-189384000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:189382400-189383200	Enhancers	Placenta	Placenta
22	chr2:189382400-189384400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:189382400-189384800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:189382400-189384800	Enhancers	NHDF-Ad	bronchial
25	chr2:189382400-189384800	Enhancers	NHLF	lung
26	chr2:189382400-189393600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:189382400-189394000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:189382600-189383000	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr2:189382600-189383400	Enhancers	Colon Smooth Muscle	Colon
30	chr2:189382600-189384600	Weak transcription	Gastric	stomach
31	chr2:189382600-189384800	Enhancers	Fetal Stomach	stomach
32	chr2:189382800-189383000	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr2:189382800-189383400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:189382800-189384200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:189382800-189384400	Enhancers	NHEK	skin
36	chr2:189382800-189384800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:189382800-189384800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:189382800-189384800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:189382800-189384800	Enhancers	NH-A	brain
40	chr2:189382800-189385200	Enhancers	Osteobl	bone
41	chr2:189382800-189394800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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