Variant report

Variant	rs226427
Chromosome Location	chr17:34050418-34050419
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	chr17:34048945..34052195-chr17:34055634..34059515,4	K562	blood:
2	chr17:34048477..34051803-chr17:34054688..34058128,3	K562	blood:

Variant related genes	Relation type
ENSG00000141150	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1037591	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs10491114	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs10491115	0.87[EUR][1000 genomes]
rs12449919	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12450039	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12452633	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12600662	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12603142	0.87[EUR][1000 genomes]
rs16971122	0.89[CHB][hapmap];0.92[JPT][hapmap]
rs2079924	0.86[EUR][1000 genomes]
rs226424	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs226433	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs226435	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs226436	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs226437	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2278950	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2428463	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2523115	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28384428	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs28661650	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs3760325	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3785759	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3785763	0.87[EUR][1000 genomes]
rs7213022	0.91[AFR][1000 genomes]
rs9303689	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs9904644	0.82[JPT][hapmap]
rs9914730	0.95[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9916483	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][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	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908080	chr17:34027964-34054044	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr17:33968000-34055800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:34018800-34050600	Weak transcription	Esophagus	oesophagus
3	chr17:34023200-34051600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr17:34024200-34056200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr17:34032600-34055800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr17:34034800-34053400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr17:34034800-34055600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr17:34035400-34056200	Strong transcription	A549	lung
9	chr17:34035800-34053000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr17:34036000-34055600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr17:34036400-34052200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr17:34036600-34055800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr17:34036800-34054800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr17:34037000-34053000	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr17:34040000-34052800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr17:34040200-34055000	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr17:34040400-34054400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr17:34040600-34050800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:34040600-34054800	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr17:34040600-34055200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr17:34040600-34055600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr17:34040800-34050600	Weak transcription	Stomach Mucosa	stomach
23	chr17:34040800-34053400	Strong transcription	Duodenum Mucosa	Duodenum
24	chr17:34040800-34054400	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr17:34040800-34054400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr17:34040800-34055000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr17:34040800-34055000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr17:34041400-34053000	Weak transcription	Right Atrium	heart
29	chr17:34042000-34050600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr17:34042400-34053000	Strong transcription	K562	blood
31	chr17:34042600-34052000	Strong transcription	Fetal Muscle Leg	muscle
32	chr17:34042800-34052000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr17:34042800-34055400	Strong transcription	Primary T cells from cord blood	blood
34	chr17:34043000-34052600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr17:34043600-34052800	Strong transcription	HSMM	muscle
36	chr17:34043600-34053800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:34043800-34050600	Weak transcription	Pancreas	Pancrea
38	chr17:34043800-34054600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr17:34044200-34050600	Weak transcription	Right Ventricle	heart
40	chr17:34044800-34050600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr17:34044800-34050600	Weak transcription	Colon Smooth Muscle	Colon
42	chr17:34044800-34050600	Weak transcription	Gastric	stomach
43	chr17:34044800-34050800	Weak transcription	Fetal Brain Male	brain
44	chr17:34044800-34055800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr17:34045000-34050600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr17:34045000-34050600	Weak transcription	Fetal Kidney	kidney
47	chr17:34045000-34050600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr17:34045000-34050600	Weak transcription	NHLF	lung
49	chr17:34045000-34050800	Weak transcription	Brain Anterior Caudate	brain
50	chr17:34045000-34058000	Weak transcription	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links