Variant report

Variant	rs17041670
Chromosome Location	chr2:111737275-111737276
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:111701030..111703038-chr2:111736681..111738220,2	MCF-7	breast:
2	chr2:111736021..111738383-chr2:111741871..111744743,2	K562	blood:
3	chr2:111732418..111734781-chr2:111735661..111737326,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1017866	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1126260	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12472985	0.81[ASN][1000 genomes]
rs13386443	0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs13432362	0.81[ASN][1000 genomes]
rs1905357	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs1905358	0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2062222	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3789098	0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs3789100	0.81[ASN][1000 genomes]
rs3789101	0.81[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs3789102	0.99[ASN][1000 genomes]
rs3789103	0.86[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs3789105	1.00[ASN][1000 genomes]
rs4849301	0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs4849303	0.84[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4849310	1.00[ASN][1000 genomes]
rs56088557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62161499	0.81[ASN][1000 genomes]
rs7564385	0.81[ASN][1000 genomes]
rs7569167	0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[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	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv834330	chr2:111593290-111789447	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1004949	chr2:111607532-111780719	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1002568	chr2:111607532-111781442	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1005665	chr2:111610107-111762039	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv535892	chr2:111610107-111762039	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17041670	SLC5A7	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111731600-111737600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:111732600-111737800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:111735200-111737600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:111735400-111740600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr2:111735600-111739600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr2:111736200-111737400	Enhancers	Fetal Lung	lung
7	chr2:111736400-111737400	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:111736400-111737400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr2:111736400-111738600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:111736400-111738600	Enhancers	Fetal Heart	heart
11	chr2:111736600-111738200	Enhancers	Right Ventricle	heart
12	chr2:111736600-111738600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:111736600-111738600	Enhancers	Left Ventricle	heart
14	chr2:111736600-111738600	Enhancers	Right Atrium	heart
15	chr2:111736800-111737600	Enhancers	Fetal Muscle Trunk	muscle
16	chr2:111737000-111738600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:111737000-111738800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:111737200-111738000	Enhancers	Duodenum Mucosa	Duodenum
19	chr2:111737200-111738000	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:111737200-111738600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:111737200-111738600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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