Variant report

Variant	rs2522134
Chromosome Location	chr12:120757391-120757392
allele	A/G
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120727833..120732436-chr12:120750797..120758239,21	K562	blood:
2	chr12:120636994..120639077-chr12:120755356..120757449,2	K562	blood:
3	chr12:120727172..120733111-chr12:120749358..120767260,47	MCF-7	breast:
4	chr12:120756637..120758720-chr12:120896710..120899227,2	K562	blood:
5	chr12:120636494..120638550-chr12:120756430..120759190,2	MCF-7	breast:
6	chr12:120756595..120759287-chr12:120763542..120765116,2	K562	blood:
7	chr12:120727224..120732436-chr12:120750439..120758135,29	K562	blood:

No data

Variant related genes	Relation type
ENSG00000200795	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000170890	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1076206	0.96[EUR][1000 genomes]
rs1179430	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1179433	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1179436	0.88[EUR][1000 genomes]
rs1179437	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1179438	0.88[ASW][hapmap];0.91[CEU][hapmap];0.83[CHB][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.90[EUR][1000 genomes]
rs1179440	0.90[EUR][1000 genomes]
rs1179441	0.81[ASW][hapmap];0.91[CEU][hapmap];0.87[LWK][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.80[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1179442	0.81[ASW][hapmap];0.91[CEU][hapmap];0.90[LWK][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.90[EUR][1000 genomes]
rs1179443	0.89[EUR][1000 genomes]
rs1179445	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs1179446	0.81[ASW][hapmap];0.91[CEU][hapmap];0.84[LWK][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs1179447	0.89[EUR][1000 genomes]
rs1179449	0.89[EUR][1000 genomes]
rs1184532	0.84[EUR][1000 genomes]
rs1306624	0.91[CEU][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs206948	0.80[EUR][1000 genomes]
rs206949	0.80[CEU][hapmap]
rs206952	0.88[ASW][hapmap];0.82[CEU][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs2070873	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2261612	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2522131	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2522133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2951690	0.83[EUR][1000 genomes]
rs735382	0.90[EUR][1000 genomes]
rs757122	0.91[CEU][hapmap];0.80[YRI][hapmap];0.93[EUR][1000 genomes]
rs916842	0.86[AFR][1000 genomes];0.90[EUR][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	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 gene(s)	inside rSNPs	diseases
3	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
5	nsv560435	chr12:120695141-120769657	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
6	nsv899556	chr12:120695141-120779931	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2522134	FBXO21	cis	parietal	SCAN
rs2522134	POP5	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120755400-120759800	Weak transcription	Small Intestine	intestine
2	chr12:120755400-120762800	Weak transcription	Gastric	stomach
3	chr12:120755400-120763200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:120755400-120763600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:120755800-120758400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr12:120755800-120759600	Weak transcription	Colonic Mucosa	Colon
7	chr12:120755800-120760000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:120756000-120757800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:120756000-120758200	Weak transcription	Stomach Mucosa	stomach
10	chr12:120756000-120759200	Weak transcription	Fetal Kidney	kidney
11	chr12:120756000-120763200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr12:120756200-120758200	Weak transcription	Fetal Intestine Large	intestine
13	chr12:120756200-120758200	Weak transcription	Spleen	Spleen
14	chr12:120756200-120758200	Weak transcription	A549	lung
15	chr12:120756200-120758600	Weak transcription	Liver	Liver
16	chr12:120756200-120758600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:120756200-120758600	Weak transcription	K562	blood
18	chr12:120756200-120763200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr12:120756200-120763200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr12:120756200-120763200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:120756200-120763200	Weak transcription	GM12878-XiMat	blood
22	chr12:120756200-120763400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:120756800-120759000	Enhancers	Pancreas	Pancrea
24	chr12:120757000-120757800	Weak transcription	Fetal Intestine Small	intestine
25	chr12:120757000-120758000	Weak transcription	HepG2	liver
26	chr12:120757000-120763200	Weak transcription	Thymus	Thymus

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