Variant report

Variant	rs16827868
Chromosome Location	chr2:187360606-187360607
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	POLR2A	chr2:187360005-187360828	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187360313..187361827-chr2:187456108..187458564,2	K562	blood:

Variant related genes	Relation type
ENSG00000213953	TF binding region

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1448859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16827746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16827763	1.00[AMR][1000 genomes]
rs16827825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16827929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16827948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2166891	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187351800-187361000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:187351800-187362600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:187352200-187365400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:187352200-187365400	Weak transcription	Lung	lung
5	chr2:187352600-187360800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:187352600-187360800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:187352600-187362600	Weak transcription	HSMMtube	muscle
8	chr2:187353400-187361800	Weak transcription	Fetal Heart	heart
9	chr2:187353600-187361200	Weak transcription	Fetal Brain Male	brain
10	chr2:187353600-187362600	Weak transcription	Fetal Stomach	stomach
11	chr2:187353800-187360800	Weak transcription	Brain Germinal Matrix	brain
12	chr2:187353800-187361000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:187353800-187361000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:187353800-187362600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:187354000-187365200	Weak transcription	Thymus	Thymus
16	chr2:187354600-187360800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:187355400-187362600	Weak transcription	Aorta	Aorta
18	chr2:187355600-187360800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:187355600-187361000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:187355600-187361000	Weak transcription	Ovary	ovary
21	chr2:187355600-187365400	Weak transcription	Gastric	stomach
22	chr2:187355600-187365400	Weak transcription	Spleen	Spleen
23	chr2:187355600-187369000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr2:187355800-187370200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:187356000-187361000	Weak transcription	Fetal Intestine Small	intestine
26	chr2:187356400-187360800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:187356800-187368400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:187357000-187360800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:187357000-187362600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:187357000-187379000	Strong transcription	Fetal Thymus	thymus
31	chr2:187357200-187361000	Weak transcription	Small Intestine	intestine
32	chr2:187357400-187383000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr2:187357600-187382600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:187357600-187386200	Strong transcription	Dnd41	blood
35	chr2:187358000-187361000	Weak transcription	Brain Angular Gyrus	brain
36	chr2:187358200-187362600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:187358200-187379000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr2:187358400-187362600	Weak transcription	Brain Substantia Nigra	brain
39	chr2:187358400-187366800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:187358400-187367200	Strong transcription	Fetal Muscle Trunk	muscle
41	chr2:187358600-187360800	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:187358600-187361200	Strong transcription	K562	blood
43	chr2:187358600-187362000	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:187358600-187362600	Weak transcription	Pancreas	Pancrea
45	chr2:187358600-187379000	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:187358600-187385800	Weak transcription	Esophagus	oesophagus
47	chr2:187358800-187360800	Weak transcription	Primary T cells from cord blood	blood
48	chr2:187358800-187360800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:187358800-187361000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:187358800-187361000	Weak transcription	Right Ventricle	heart

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