Variant report

Variant	rs16831135
Chromosome Location	chr2:153306930-153306931
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10460316	0.81[EUR][1000 genomes]
rs11884490	0.81[EUR][1000 genomes]
rs11897348	0.84[EUR][1000 genomes]
rs12105467	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12989726	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12992900	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13033468	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16831031	0.81[EUR][1000 genomes]
rs16831229	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16831246	0.92[GIH][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16831247	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16831263	0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs2881338	0.93[EUR][1000 genomes]
rs34027587	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34520795	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35455499	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4664108	0.86[EUR][1000 genomes]
rs4664111	0.85[GIH][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes]
rs4664584	0.93[EUR][1000 genomes]
rs4664588	0.93[EUR][1000 genomes]
rs60280470	0.83[EUR][1000 genomes]
rs67374211	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71417228	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7582905	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][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	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	esv2754362	chr2:153297577-153366129	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153295400-153308600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:153295400-153311000	Weak transcription	Ovary	ovary
3	chr2:153298800-153308800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:153300600-153307000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:153300600-153311200	Weak transcription	Lung	lung
6	chr2:153301000-153314200	Weak transcription	Placenta	Placenta
7	chr2:153301600-153307200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:153301600-153311200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:153301800-153307200	Weak transcription	Fetal Thymus	thymus
10	chr2:153301800-153321000	Weak transcription	Right Atrium	heart
11	chr2:153302400-153312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:153302400-153321600	Weak transcription	Left Ventricle	heart
13	chr2:153302600-153309200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:153302600-153309800	Weak transcription	Fetal Stomach	stomach
15	chr2:153302800-153311200	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:153302800-153314800	Weak transcription	Aorta	Aorta
17	chr2:153303000-153312600	Weak transcription	Hela-S3	cervix
18	chr2:153303200-153309200	Weak transcription	A549	lung
19	chr2:153303400-153307200	Weak transcription	Fetal Brain Female	brain
20	chr2:153303400-153308400	Weak transcription	NH-A	brain
21	chr2:153303400-153311200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:153303400-153322600	Weak transcription	NHLF	lung
23	chr2:153303600-153311000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:153303600-153312000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:153304000-153309800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:153304200-153307200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:153304200-153307400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:153304400-153309200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:153304400-153312400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:153304400-153321800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:153304600-153307600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:153304600-153307600	Enhancers	Fetal Kidney	kidney
33	chr2:153304600-153308400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:153304600-153309600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:153304600-153312000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr2:153304800-153308800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr2:153305000-153307400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:153305000-153308600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr2:153305200-153307400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr2:153305200-153307400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr2:153305200-153308800	Enhancers	H9 Cell Line	embryonic stem cell
42	chr2:153305200-153312000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:153305200-153312200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:153305200-153312400	Weak transcription	HMEC	breast
45	chr2:153305600-153307200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:153305600-153307400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:153305600-153308400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:153305600-153321800	Weak transcription	Fetal Intestine Small	intestine
49	chr2:153305800-153307000	Enhancers	Brain Hippocampus Middle	brain
50	chr2:153305800-153307000	Weak transcription	NHEK	skin

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