Variant report

Variant	rs10171003
Chromosome Location	chr2:47528121-47528122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47400704..47405102-chr2:47526831..47530549,9	K562	blood:
2	chr2:47527126..47529865-chr2:47532972..47535062,2	K562	blood:
3	chr2:47401602..47404089-chr2:47525585..47528429,3	MCF-7	breast:
4	chr2:47398936..47406040-chr2:47522760..47537371,25	K562	blood:
5	chr2:47523609..47528403-chr2:47528792..47532304,4	MCF-7	breast:
6	chr2:47527356..47529595-chr2:47537619..47539608,2	K562	blood:

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10166026	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10166123	1.00[EUR][1000 genomes]
rs10168995	1.00[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10169556	1.00[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10189548	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10192326	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12471906	0.80[AMR][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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv457385	chr2:47468331-47552277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv581755	chr2:47468331-47552277	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47515200-47528400	Weak transcription	HepG2	liver
2	chr2:47517600-47530400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:47519800-47537200	Weak transcription	Fetal Stomach	stomach
4	chr2:47520200-47534200	Weak transcription	Fetal Brain Female	brain
5	chr2:47520800-47540000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:47522800-47529200	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:47523200-47537000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:47523400-47530400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:47523400-47530800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:47523400-47536600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:47523600-47530600	Weak transcription	Brain Angular Gyrus	brain
12	chr2:47523600-47536800	Weak transcription	Fetal Kidney	kidney
13	chr2:47524200-47528800	Enhancers	Fetal Intestine Small	intestine
14	chr2:47524200-47529600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:47524400-47528600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:47525000-47530200	Enhancers	Placenta	Placenta
17	chr2:47525200-47528600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:47525400-47534400	Enhancers	Adipose Nuclei	Adipose
19	chr2:47525400-47537400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:47526000-47529400	Enhancers	A549	lung
21	chr2:47526400-47536800	Weak transcription	Fetal Lung	lung
22	chr2:47526400-47536800	Weak transcription	Spleen	Spleen
23	chr2:47526600-47537800	Weak transcription	Fetal Brain Male	brain
24	chr2:47526800-47528200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:47526800-47528400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:47526800-47528800	Enhancers	Fetal Intestine Large	intestine
27	chr2:47526800-47529200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:47526800-47529200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:47527000-47528600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr2:47527000-47528600	Enhancers	Duodenum Mucosa	Duodenum
31	chr2:47527000-47528600	Enhancers	Psoas Muscle	Psoas
32	chr2:47527000-47530400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:47527000-47530600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr2:47527200-47528200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:47527200-47528600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr2:47527200-47528800	Enhancers	Primary hematopoietic stem cells	blood
37	chr2:47527200-47530800	Weak transcription	Osteobl	bone
38	chr2:47527400-47528400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:47527400-47528600	Enhancers	Brain Anterior Caudate	brain
40	chr2:47527400-47528800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr2:47527400-47528800	Enhancers	Brain Cingulate Gyrus	brain
42	chr2:47527400-47529800	Enhancers	Brain Hippocampus Middle	brain
43	chr2:47527400-47536800	Weak transcription	Brain Germinal Matrix	brain
44	chr2:47527600-47528200	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr2:47527600-47528400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:47527600-47528400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:47527600-47528600	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr2:47527600-47528600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr2:47527600-47528800	Enhancers	Brain Substantia Nigra	brain
50	chr2:47527600-47529800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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