Variant report

Variant	rs12632671
Chromosome Location	chr3:53258424-53258425
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53256664..53260514-chr3:53263173..53266818,4	K562	blood:
2	chr3:53257303..53259032-chr3:53259305..53261154,2	K562	blood:
3	chr3:53257276..53259251-chr3:53261922..53264786,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163931	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12629138	1.00[CEU][hapmap]
rs12635973	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41332244	1.00[CEU][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs750527	0.85[TSI][hapmap]

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	nsv834699	chr3:53151876-53325808	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv517233	chr3:53175557-53321002	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12632671	TKT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53229000-53270000	Weak transcription	Right Atrium	heart
2	chr3:53245400-53259400	Weak transcription	Stomach Mucosa	stomach
3	chr3:53254400-53258600	Weak transcription	Fetal Lung	lung
4	chr3:53254400-53261600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr3:53254400-53267200	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr3:53254400-53270400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr3:53255400-53258600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:53255600-53260400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr3:53255600-53266800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:53255600-53267200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:53255600-53274400	Strong transcription	GM12878-XiMat	blood
12	chr3:53255800-53267600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr3:53255800-53269800	Genic enhancers	A549	lung
14	chr3:53255800-53269800	Strong transcription	Osteobl	bone
15	chr3:53256000-53260200	Genic enhancers	Spleen	Spleen
16	chr3:53256000-53269600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr3:53256000-53269600	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr3:53256000-53269600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:53256200-53259600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:53256200-53259600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:53256200-53260400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:53256200-53260400	Weak transcription	Psoas Muscle	Psoas
23	chr3:53256200-53267000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:53256200-53267200	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr3:53256200-53269000	Strong transcription	Right Ventricle	heart
26	chr3:53256200-53269600	Strong transcription	Fetal Intestine Small	intestine
27	chr3:53256200-53269600	Strong transcription	NHLF	lung
28	chr3:53256200-53270000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:53256200-53270000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:53256200-53270000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr3:53256400-53259400	Genic enhancers	Adipose Nuclei	Adipose
32	chr3:53256400-53266400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:53256400-53266800	Strong transcription	Placenta	Placenta
34	chr3:53256400-53269400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr3:53256400-53269600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:53256400-53270000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr3:53256400-53270000	Weak transcription	Fetal Kidney	kidney
38	chr3:53256400-53270000	Strong transcription	Stomach Smooth Muscle	stomach
39	chr3:53256400-53270200	Strong transcription	Fetal Thymus	thymus
40	chr3:53256400-53272400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:53256400-53276400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:53256400-53276600	Strong transcription	Fetal Brain Female	brain
43	chr3:53256400-53276800	Strong transcription	Fetal Stomach	stomach
44	chr3:53256600-53258800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr3:53256600-53265800	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr3:53256600-53268400	Strong transcription	Esophagus	oesophagus
47	chr3:53256600-53269600	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr3:53256600-53270000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:53256600-53270000	Strong transcription	Lung	lung
50	chr3:53256600-53272000	Strong transcription	ES-I3 Cell Line	embryonic stem cell

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