Variant report

Variant	rs16831229
Chromosome Location	chr2:153349692-153349693
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153344407..153345927-chr2:153347913..153350006,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10460316	0.83[EUR][1000 genomes]
rs10931146	1.00[JPT][hapmap]
rs11884490	0.83[EUR][1000 genomes]
rs11897348	0.85[EUR][1000 genomes]
rs12105467	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12105483	0.81[EUR][1000 genomes]
rs12989726	1.00[CEU][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12992900	1.00[CEU][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13033468	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16831031	0.83[EUR][1000 genomes]
rs16831135	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16831246	1.00[CEU][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16831247	1.00[CEU][hapmap];0.88[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16831263	0.90[EUR][1000 genomes]
rs2881338	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34027587	0.83[EUR][1000 genomes]
rs34520795	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35455499	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4233659	0.81[EUR][1000 genomes]
rs4664108	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4664111	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4664584	1.00[CEU][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4664588	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55692468	0.83[ASN][1000 genomes]
rs60280470	0.90[EUR][1000 genomes]
rs67374211	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6739557	1.00[CEU][hapmap]
rs71417228	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7582905	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	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
5	nsv875292	chr2:153308471-153357383	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153334400-153353800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:153338600-153353400	Weak transcription	NHEK	skin
3	chr2:153340600-153354200	Weak transcription	Small Intestine	intestine
4	chr2:153342000-153351600	Enhancers	Brain Substantia Nigra	brain
5	chr2:153342000-153351800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:153342400-153350000	Weak transcription	Right Ventricle	heart
7	chr2:153342600-153355800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:153343000-153360600	Enhancers	Brain Anterior Caudate	brain
9	chr2:153343200-153350000	Weak transcription	HUVEC	blood vessel
10	chr2:153343800-153349800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:153344800-153351000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr2:153345000-153351600	Enhancers	Fetal Lung	lung
13	chr2:153345400-153351400	Enhancers	Brain Angular Gyrus	brain
14	chr2:153345600-153350800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:153345800-153350000	Weak transcription	Gastric	stomach
16	chr2:153345800-153351600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:153346200-153349800	Weak transcription	A549	lung
18	chr2:153346200-153350000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:153346200-153350000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:153346200-153352800	Weak transcription	GM12878-XiMat	blood
21	chr2:153346600-153350000	Enhancers	NHDF-Ad	bronchial
22	chr2:153346600-153351400	Enhancers	Adipose Nuclei	Adipose
23	chr2:153347600-153354200	Weak transcription	Pancreas	Pancrea
24	chr2:153347800-153350000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:153347800-153351000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:153347800-153351800	Enhancers	Brain Hippocampus Middle	brain
27	chr2:153347800-153354400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:153348000-153350000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:153348000-153350000	Weak transcription	Psoas Muscle	Psoas
30	chr2:153348000-153350000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:153348000-153350600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:153348000-153350600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:153348000-153352000	Enhancers	Brain Cingulate Gyrus	brain
34	chr2:153348000-153352800	Weak transcription	Fetal Brain Male	brain
35	chr2:153348000-153354200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:153348200-153349800	Weak transcription	Fetal Kidney	kidney
37	chr2:153348200-153352600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:153348400-153350000	Weak transcription	Left Ventricle	heart
39	chr2:153348400-153350000	Weak transcription	Right Atrium	heart
40	chr2:153348600-153350200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr2:153348600-153350400	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:153348600-153351000	Enhancers	HepG2	liver
43	chr2:153348600-153351400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:153348600-153354200	Weak transcription	Fetal Intestine Large	intestine
45	chr2:153348600-153354200	Weak transcription	Placenta	Placenta
46	chr2:153348600-153357200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:153348800-153349800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:153348800-153350000	Weak transcription	Ovary	ovary
49	chr2:153348800-153350400	Weak transcription	Fetal Stomach	stomach
50	chr2:153348800-153354200	Weak transcription	Duodenum Mucosa	Duodenum

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