Variant report

Variant	rs1307273
Chromosome Location	chr6:34240886-34240887
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34239505..34241524-chr6:34360181..34361752,2	K562	blood:
2	chr6:34215632..34219561-chr6:34237881..34242839,8	K562	blood:
3	chr6:34238995..34241541-chr6:34307534..34310949,3	K562	blood:
4	chr6:34240075..34242677-chr6:34273875..34276752,2	K562	blood:
5	chr6:34239800..34242616-chr6:34243635..34245743,3	K562	blood:
6	chr6:34203242..34206632-chr6:34239614..34242822,4	K562	blood:
7	chr6:34239719..34243509-chr6:34291067..34294837,5	K562	blood:
8	chr6:34240626..34242765-chr6:34381088..34382672,2	K562	blood:
9	chr6:34202535..34207128-chr6:34239118..34243057,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137309	Chromatin interaction
ENSG00000186577	Chromatin interaction
ENSG00000272325	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2797961	0.85[ASN][1000 genomes]
rs6918981	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885781	chr6:34110257-34247661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv462903	chr6:34110257-34263743	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv602863	chr6:34110257-34263743	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv885784	chr6:34187206-34246714	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	esv1798756	chr6:34203406-34319041	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	esv1798835	chr6:34204183-34319041	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	esv1792088	chr6:34204285-34318837	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	esv1793127	chr6:34204285-34319041	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1307273	NUDT3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34218200-34255000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr6:34227000-34241200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:34228600-34247000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:34229000-34246800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:34231200-34241000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:34231200-34241200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:34231200-34246600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:34233000-34251800	Weak transcription	NHDF-Ad	bronchial
9	chr6:34233200-34245400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:34234200-34247600	Weak transcription	Brain Germinal Matrix	brain
11	chr6:34235800-34245600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:34237000-34246600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:34238400-34259400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:34239000-34247600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr6:34239200-34242200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr6:34239200-34246000	Weak transcription	Brain Angular Gyrus	brain
17	chr6:34239400-34241000	Enhancers	Primary hematopoietic stem cells	blood
18	chr6:34239400-34241400	Weak transcription	Right Atrium	heart
19	chr6:34239600-34241800	Enhancers	Placenta	Placenta
20	chr6:34239600-34242000	Enhancers	Primary B cells from cord blood	blood
21	chr6:34239600-34242000	Enhancers	Primary B cells from peripheral blood	blood
22	chr6:34239600-34242000	Enhancers	Adipose Nuclei	Adipose
23	chr6:34239600-34247000	Weak transcription	Fetal Brain Female	brain
24	chr6:34239800-34241000	Enhancers	K562	blood
25	chr6:34239800-34241600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr6:34239800-34242200	Enhancers	GM12878-XiMat	blood
27	chr6:34239800-34242200	Enhancers	HUVEC	blood vessel
28	chr6:34239800-34245400	Weak transcription	Fetal Stomach	stomach
29	chr6:34240000-34241200	Enhancers	HepG2	liver
30	chr6:34240000-34241600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:34240000-34241800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:34240000-34241800	Enhancers	Right Ventricle	heart
33	chr6:34240000-34242000	Enhancers	Spleen	Spleen
34	chr6:34240000-34244800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr6:34240000-34246200	Enhancers	Left Ventricle	heart
36	chr6:34240200-34241200	Weak transcription	Fetal Thymus	thymus
37	chr6:34240200-34245400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr6:34240200-34249000	Weak transcription	NHLF	lung
39	chr6:34240200-34250200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr6:34240200-34255200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr6:34240400-34249600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr6:34240400-34251800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:34240400-34255000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr6:34240400-34259800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr6:34240400-34259800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr6:34240600-34241000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr6:34240600-34241000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:34240600-34241000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:34240600-34241000	Weak transcription	Fetal Muscle Leg	muscle
50	chr6:34240600-34241000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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