Variant report

Variant	rs6761598
Chromosome Location	chr2:209171807-209171808
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:209166666..209169529-chr2:209169706..209171903,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55994647	1.00[AMR][1000 genomes]
rs56243446	1.00[AMR][1000 genomes]
rs6731510	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73983738	1.00[AMR][1000 genomes]
rs73983751	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv875752	chr2:209141066-209235373	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209139400-209180000	Strong transcription	Fetal Thymus	thymus
2	chr2:209141200-209180000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:209147400-209225600	Weak transcription	Stomach Mucosa	stomach
4	chr2:209149600-209179800	Strong transcription	Dnd41	blood
5	chr2:209156000-209180000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:209157200-209173600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:209159200-209182200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:209159800-209179400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:209160000-209188800	Weak transcription	Small Intestine	intestine
10	chr2:209162400-209172000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:209162400-209172000	Strong transcription	Duodenum Mucosa	Duodenum
12	chr2:209162400-209174600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:209162800-209173000	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:209163000-209187400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr2:209163200-209177000	Strong transcription	Primary hematopoietic stem cells	blood
16	chr2:209163200-209180600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr2:209163200-209187400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr2:209163400-209172200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:209163400-209172400	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:209163400-209172600	Strong transcription	Placenta	Placenta
21	chr2:209163400-209173000	Strong transcription	Fetal Intestine Large	intestine
22	chr2:209163400-209173200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:209163400-209173400	Strong transcription	Primary T cells from cord blood	blood
24	chr2:209163400-209174600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:209163400-209180600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:209163400-209187400	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:209163600-209172400	Strong transcription	Primary B cells from peripheral blood	blood
28	chr2:209163600-209172600	Strong transcription	Primary B cells from cord blood	blood
29	chr2:209163600-209180600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:209163600-209182200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:209164800-209172400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:209164800-209179400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:209165800-209180000	Weak transcription	Aorta	Aorta
34	chr2:209165800-209204000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr2:209166200-209172800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:209166200-209189600	Weak transcription	Pancreas	Pancrea
37	chr2:209166600-209189000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr2:209167000-209179600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr2:209167200-209176600	Weak transcription	Fetal Heart	heart
40	chr2:209167200-209177400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr2:209167200-209179600	Weak transcription	NHEK	skin
42	chr2:209168400-209172000	Strong transcription	HSMMtube	muscle
43	chr2:209169800-209180000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:209170000-209172800	Weak transcription	Fetal Intestine Small	intestine
45	chr2:209170000-209173200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr2:209170000-209173400	Weak transcription	Fetal Muscle Leg	muscle
47	chr2:209170000-209176400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr2:209170000-209178400	Weak transcription	Fetal Stomach	stomach
49	chr2:209170000-209179000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:209170000-209179000	Weak transcription	Lung	lung

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