Variant report

Variant	rs7196129
Chromosome Location	chr16:30471109-30471110
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:30462093..30464895-chr16:30468184..30472566,3	K562	blood:
2	chr16:30463339..30465681-chr16:30468869..30471682,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000202476	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11150589	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11574938	0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11648955	0.85[ASN][1000 genomes]
rs12598978	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12716977	0.93[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12926510	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17839542	1.00[CHB][hapmap]
rs2285459	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs34686249	0.92[ASN][1000 genomes]
rs61598883	0.92[ASN][1000 genomes]
rs62056315	0.92[ASN][1000 genomes]
rs62056316	0.92[ASN][1000 genomes]
rs7186331	1.00[ASN][1000 genomes]
rs7197010	0.80[EUR][1000 genomes]
rs8046842	1.00[ASN][1000 genomes]
rs8058719	0.93[ASN][1000 genomes]
rs8059970	1.00[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	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
2	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
3	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
4	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
5	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
6	nsv1783	chr16:30449450-30494321	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7196129	BOLA2///LOC440354///LOC595101	N/A	lymphoblastoid	RTeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30459000-30472600	Weak transcription	Gastric	stomach
2	chr16:30465800-30471400	Weak transcription	K562	blood
3	chr16:30467600-30471200	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr16:30468400-30473200	Enhancers	Primary B cells from peripheral blood	blood
5	chr16:30468400-30473400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr16:30468600-30471200	Enhancers	Primary T cells from cord blood	blood
7	chr16:30469000-30473600	Enhancers	Primary hematopoietic stem cells	blood
8	chr16:30469200-30471800	Weak transcription	Liver	Liver
9	chr16:30469400-30477000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr16:30470000-30471200	Flanking Active TSS	GM12878-XiMat	blood
11	chr16:30470400-30471200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr16:30470600-30471200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr16:30470600-30471200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr16:30470600-30471200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr16:30470600-30471200	Enhancers	Dnd41	blood
16	chr16:30470600-30471400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr16:30470600-30472600	Enhancers	Primary B cells from cord blood	blood
18	chr16:30470600-30473600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:30470600-30479200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr16:30470600-30485000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr16:30470800-30471200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr16:30470800-30471200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr16:30470800-30471200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr16:30470800-30471200	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr16:30470800-30471200	Enhancers	Thymus	Thymus
26	chr16:30470800-30471800	Weak transcription	Fetal Intestine Small	intestine
27	chr16:30470800-30472200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr16:30470800-30472200	Weak transcription	Fetal Muscle Leg	muscle
29	chr16:30470800-30472200	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr16:30470800-30473000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr16:30470800-30473600	Enhancers	Fetal Thymus	thymus
32	chr16:30471000-30471200	Enhancers	HepG2	liver
33	chr16:30471000-30472400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr16:30471000-30477200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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