Variant report

Variant	rs17041697
Chromosome Location	chr2:111750514-111750515
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr2:111750509-111750831	HepG2	liver:	n/a	n/a
2	MAFK	chr2:111750498-111750812	IMR90	lung:	n/a	n/a
3	MAFK	chr2:111750368-111750806	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111741788..111745598-chr2:111748398..111751516,4	MCF-7	breast:

Variant related genes	Relation type
ACOXL	TF binding region
ENSG00000153093	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17041763	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17041789	0.84[ASW][hapmap];0.94[LWK][hapmap]
rs17483466	1.00[CHD][hapmap]
rs17549227	1.00[CHD][hapmap]
rs41420847	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs752834	1.00[CHD][hapmap]
rs754352	1.00[CHD][hapmap]
rs9941571	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][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
rs17041697	LOC541471	cis	lymphoblastoid	seeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111738600-111751800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:111743400-111751800	Weak transcription	Fetal Intestine Small	intestine
3	chr2:111746200-111754200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:111746800-111752000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:111749200-111752600	Enhancers	Fetal Lung	lung
6	chr2:111749200-111756200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:111749800-111751200	Enhancers	Dnd41	blood
8	chr2:111750000-111750600	Enhancers	Fetal Muscle Trunk	muscle
9	chr2:111750000-111751400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr2:111750000-111751600	Enhancers	Primary T cells from cord blood	blood
11	chr2:111750000-111752600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr2:111750000-111752600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:111750000-111753200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:111750200-111750600	Enhancers	Primary B cells from peripheral blood	blood
15	chr2:111750200-111750600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr2:111750200-111751400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr2:111750200-111752600	Enhancers	Primary B cells from cord blood	blood
18	chr2:111750400-111751200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr2:111750400-111751400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:111750400-111751600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr2:111750400-111751600	Weak transcription	Placenta	Placenta
22	chr2:111750400-111751600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:111750400-111751800	Weak transcription	Fetal Stomach	stomach
24	chr2:111750400-111752000	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:111750400-111757000	Weak transcription	Lung	lung

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