Variant report

Variant	rs171610
Chromosome Location	chr5:5015185-5015186
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	chr5:5013892..5018267-chr5:5019017..5021975,4	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11740193	0.87[ASN][1000 genomes]
rs11745073	0.87[ASN][1000 genomes]
rs11748324	0.87[ASN][1000 genomes]
rs168732	1.00[JPT][hapmap]
rs16874565	0.87[AFR][1000 genomes]
rs16874572	0.87[ASN][1000 genomes]
rs16874586	0.87[ASN][1000 genomes]
rs249466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs249470	1.00[EUR][1000 genomes]
rs273371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs30483	1.00[EUR][1000 genomes]
rs30485	1.00[EUR][1000 genomes]
rs460228	0.88[ASN][1000 genomes]
rs467075	0.94[ASN][1000 genomes]
rs733500	0.87[ASN][1000 genomes]
rs745033	0.87[ASN][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	nsv1021653	chr5:4932992-5201887	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2757980	chr5:4980876-5184615	Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2759318	chr5:4980876-5184615	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv880436	chr5:4982643-5038540	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv830194	chr5:5002459-5187667	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs171610	NAP1L2	trans	lymphoblastoid	seeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5014400-5015800	Enhancers	Fetal Brain Male	brain
2	chr5:5014600-5015200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:5014600-5015600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:5014600-5015800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:5014600-5015800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:5014600-5015800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:5014600-5015800	Enhancers	Adipose Nuclei	Adipose
8	chr5:5014800-5015400	Enhancers	Brain Anterior Caudate	brain
9	chr5:5014800-5015600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:5014800-5015600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:5014800-5015600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:5014800-5015600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:5014800-5015600	Enhancers	Fetal Stomach	stomach
14	chr5:5014800-5015600	Enhancers	HSMMtube	muscle
15	chr5:5014800-5015600	Flanking Active TSS	Osteobl	bone
16	chr5:5014800-5015800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:5014800-5015800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:5014800-5015800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr5:5014800-5015800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr5:5014800-5015800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:5014800-5015800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:5014800-5015800	Enhancers	Fetal Brain Female	brain
23	chr5:5014800-5015800	Enhancers	NHEK	skin
24	chr5:5014800-5016000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:5014800-5016400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:5014800-5016400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:5015000-5015200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:5015000-5015200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:5015000-5015200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:5015000-5015200	Enhancers	NH-A	brain
31	chr5:5015000-5015400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr5:5015000-5015400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:5015000-5015400	Enhancers	Colon Smooth Muscle	Colon
34	chr5:5015000-5015600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr5:5015000-5015600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:5015000-5015600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:5015000-5015600	Enhancers	Fetal Muscle Trunk	muscle
38	chr5:5015000-5015600	Enhancers	Fetal Muscle Leg	muscle
39	chr5:5015000-5015600	Enhancers	Ovary	ovary
40	chr5:5015000-5015800	Enhancers	HMEC	breast

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