Variant report

Variant	rs41332244
Chromosome Location	chr3:53282033-53282034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53278235..53282176-chr3:53286915..53291118,4	K562	blood:
2	chr3:53280225..53283761-chr3:53288305..53291805,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163931	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1075865	1.00[JPT][hapmap]
rs12492129	1.00[CHD][hapmap];0.91[GIH][hapmap]
rs12496915	1.00[CHD][hapmap];0.91[GIH][hapmap]
rs12629138	1.00[CEU][hapmap]
rs12632671	1.00[CEU][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs12635973	1.00[CEU][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs9846315	1.00[JPT][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
rs41332244	TKT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53272400-53282200	Genic enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:53272800-53286600	Weak transcription	Fetal Brain Male	brain
3	chr3:53272800-53288000	Weak transcription	Fetal Kidney	kidney
4	chr3:53274400-53283600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr3:53275400-53283200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:53276000-53283400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr3:53276200-53283800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:53276200-53287400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr3:53276400-53283400	Weak transcription	Liver	Liver
10	chr3:53276400-53283600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr3:53276400-53283600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr3:53276400-53283600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr3:53276400-53284000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:53276600-53285200	Weak transcription	HSMM	muscle
15	chr3:53277200-53285600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr3:53277600-53286200	Weak transcription	Fetal Intestine Large	intestine
17	chr3:53277800-53284800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:53278000-53282200	Weak transcription	Colonic Mucosa	Colon
19	chr3:53278400-53284200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:53278400-53284800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:53278600-53282200	Weak transcription	Primary B cells from cord blood	blood
22	chr3:53278600-53283600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr3:53278600-53283800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:53278600-53284800	Weak transcription	NH-A	brain
25	chr3:53278600-53285400	Weak transcription	Ovary	ovary
26	chr3:53278600-53285600	Weak transcription	Aorta	Aorta
27	chr3:53278600-53288000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr3:53278800-53283400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr3:53278800-53283400	Weak transcription	Fetal Lung	lung
30	chr3:53278800-53283400	Genic enhancers	Hela-S3	cervix
31	chr3:53278800-53283600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr3:53278800-53283600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr3:53278800-53283800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr3:53278800-53283800	Weak transcription	NHLF	lung
35	chr3:53278800-53284200	Weak transcription	Osteobl	bone
36	chr3:53278800-53284400	Weak transcription	Brain Substantia Nigra	brain
37	chr3:53278800-53286000	Weak transcription	Small Intestine	intestine
38	chr3:53278800-53287800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr3:53278800-53288200	Weak transcription	Psoas Muscle	Psoas
40	chr3:53279000-53282200	Weak transcription	HepG2	liver
41	chr3:53279000-53283600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr3:53279000-53285000	Weak transcription	Stomach Mucosa	stomach
43	chr3:53279600-53282200	Weak transcription	Placenta	Placenta
44	chr3:53279600-53283400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr3:53279600-53283600	Weak transcription	Lung	lung
46	chr3:53279600-53284000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:53279600-53284000	Weak transcription	Colon Smooth Muscle	Colon
48	chr3:53280000-53283800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:53280200-53282200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:53280200-53283400	Weak transcription	Fetal Intestine Small	intestine

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