Variant report

Variant	rs13428547
Chromosome Location	chr2:99744257-99744258
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10176788	0.88[AFR][1000 genomes]
rs10201856	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12475034	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13009147	0.82[CHB][hapmap]
rs17760953	0.82[CHB][hapmap];0.85[CHD][hapmap]
rs4622780	0.82[CHB][hapmap]
rs62156364	0.82[ASN][1000 genomes]
rs7591519	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1013507	chr2:99729047-99861692	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv535839	chr2:99742621-99793747	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99739200-99746000	Weak transcription	Primary B cells from cord blood	blood
2	chr2:99740600-99744400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:99740600-99745000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:99740800-99744800	Weak transcription	Brain Substantia Nigra	brain
5	chr2:99741200-99744400	Weak transcription	Fetal Thymus	thymus
6	chr2:99741800-99746800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:99742400-99745400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr2:99742800-99744600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:99742800-99744600	Weak transcription	Colonic Mucosa	Colon
10	chr2:99742800-99744600	Weak transcription	NHEK	skin
11	chr2:99742800-99744800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:99742800-99744800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:99742800-99744800	Weak transcription	Thymus	Thymus
14	chr2:99742800-99745000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:99742800-99745000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:99742800-99745000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:99742800-99745200	Weak transcription	Esophagus	oesophagus
18	chr2:99742800-99745200	Weak transcription	Pancreas	Pancrea
19	chr2:99742800-99745600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:99742800-99745600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:99742800-99745600	Weak transcription	Brain Angular Gyrus	brain
22	chr2:99742800-99745600	Weak transcription	Fetal Intestine Large	intestine
23	chr2:99742800-99745800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:99742800-99745800	Weak transcription	Left Ventricle	heart
25	chr2:99742800-99757200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:99743000-99744600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:99743000-99745000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:99743200-99744400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:99743200-99744600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr2:99743200-99745000	Weak transcription	Fetal Kidney	kidney
31	chr2:99743200-99745600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr2:99743200-99746000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:99743200-99757000	Weak transcription	Small Intestine	intestine
34	chr2:99743400-99744600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr2:99743400-99744600	Weak transcription	Adipose Nuclei	Adipose
36	chr2:99743400-99744800	Weak transcription	Placenta	Placenta
37	chr2:99743400-99745000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:99743400-99745200	Weak transcription	Brain Anterior Caudate	brain
39	chr2:99743400-99745200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr2:99743400-99745600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:99743400-99745800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:99743400-99756400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:99743400-99756600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:99743400-99756800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr2:99743600-99744800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr2:99743600-99745000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:99743600-99745800	Weak transcription	Brain Hippocampus Middle	brain
48	chr2:99743800-99745800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:99744000-99745600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:99744200-99744600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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