Variant report

Variant	rs16840911
Chromosome Location	chr2:209179811-209179812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11886633	1.00[MEX][hapmap]
rs11887246	0.92[YRI][hapmap]
rs11893137	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs11895011	1.00[MEX][hapmap]
rs11900211	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12995408	0.83[YRI][hapmap]
rs13015438	0.90[EUR][1000 genomes]
rs13020468	0.90[EUR][1000 genomes]
rs13034777	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs16840789	0.90[EUR][1000 genomes]
rs16840791	0.90[EUR][1000 genomes]
rs16840793	0.90[EUR][1000 genomes]
rs16840913	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs16841205	0.92[YRI][hapmap]
rs34338022	0.90[EUR][1000 genomes]
rs34366347	0.90[EUR][1000 genomes]
rs55849328	0.90[EUR][1000 genomes]
rs71418672	0.90[EUR][1000 genomes]
rs71418679	0.90[EUR][1000 genomes]
rs73983726	0.90[EUR][1000 genomes]
rs73983759	0.90[EUR][1000 genomes]
rs7578542	0.90[EUR][1000 genomes]
rs7579320	0.83[AMR][1000 genomes];0.90[EUR][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	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
2	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
3	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	chr2:209156000-209180000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:209159200-209182200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:209160000-209188800	Weak transcription	Small Intestine	intestine
7	chr2:209163000-209187400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr2:209163200-209180600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:209163200-209187400	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr2:209163400-209180600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:209163400-209187400	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:209163600-209180600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:209163600-209182200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:209165800-209180000	Weak transcription	Aorta	Aorta
15	chr2:209165800-209204000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:209166200-209189600	Weak transcription	Pancreas	Pancrea
17	chr2:209166600-209189000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:209169800-209180000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:209170000-209180000	Weak transcription	Esophagus	oesophagus
20	chr2:209170000-209182200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:209170000-209182200	Weak transcription	Spleen	Spleen
22	chr2:209170000-209183000	Weak transcription	Psoas Muscle	Psoas
23	chr2:209170000-209190000	Weak transcription	Right Ventricle	heart
24	chr2:209170200-209180000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:209170200-209180000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:209170200-209180000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:209170200-209189600	Weak transcription	Colonic Mucosa	Colon
28	chr2:209171400-209180000	Weak transcription	Brain Angular Gyrus	brain
29	chr2:209171400-209184000	Weak transcription	HUVEC	blood vessel
30	chr2:209171800-209180000	Weak transcription	Left Ventricle	heart
31	chr2:209173800-209180000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:209174000-209187400	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:209175600-209180600	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:209176000-209180600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:209176400-209180000	Strong transcription	Primary T cells from cord blood	blood
36	chr2:209176800-209184000	Strong transcription	Adipose Nuclei	Adipose
37	chr2:209177200-209182200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr2:209177600-209180200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:209177600-209180600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:209177800-209182600	Weak transcription	Fetal Heart	heart
41	chr2:209178400-209180600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr2:209178400-209180600	Strong transcription	Fetal Intestine Small	intestine
43	chr2:209178400-209180600	Strong transcription	Fetal Stomach	stomach
44	chr2:209178600-209180400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr2:209178600-209180400	Strong transcription	HepG2	liver
46	chr2:209178600-209180600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:209178800-209180000	Genic enhancers	Primary B cells from peripheral blood	blood
48	chr2:209178800-209180400	Strong transcription	Brain Substantia Nigra	brain
49	chr2:209178800-209180600	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr2:209178800-209180600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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