Variant report

Variant	rs12522938
Chromosome Location	chr5:43110474-43110475
allele	C/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43091526..43093494-chr5:43109085..43110636,2	K562	blood:
2	chr5:43109727..43112275-chr5:43377801..43380719,2	K562	blood:
3	chr5:43041769..43043458-chr5:43108775..43111084,2	MCF-7	breast:
4	chr5:43091526..43093622-chr5:43109085..43111256,2	K562	blood:
5	chr5:43105728..43107358-chr5:43108902..43110996,2	MCF-7	breast:
6	chr5:43105944..43108297-chr5:43109238..43111708,2	K562	blood:
7	chr5:43103618..43114075-chr5:43115760..43123048,23	MCF-7	breast:
8	chr5:43105107..43107712-chr5:43109708..43111277,2	K562	blood:
9	chr5:43065870..43068626-chr5:43108656..43111085,2	MCF-7	breast:
10	chr5:43103922..43107081-chr5:43109659..43112265,3	MCF-7	breast:
11	chr5:43065957..43068100-chr5:43108187..43111069,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215068	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000177721	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10050724	1.00[ASN][1000 genomes]
rs12514283	1.00[ASN][1000 genomes]
rs1845485	1.00[ASN][1000 genomes]
rs55735646	1.00[ASN][1000 genomes]
rs55780226	1.00[ASN][1000 genomes]
rs56003146	1.00[ASN][1000 genomes]
rs56081223	1.00[ASN][1000 genomes]
rs6868031	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72748850	0.83[EUR][1000 genomes]
rs72748871	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748894	1.00[ASN][1000 genomes]
rs72750768	1.00[ASN][1000 genomes]
rs72752514	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases
9	nsv981009	chr5:43101558-43114874	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43106000-43120400	Weak transcription	Fetal Brain Female	brain
2	chr5:43106000-43120600	Weak transcription	Left Ventricle	heart
3	chr5:43106200-43120400	Weak transcription	Fetal Stomach	stomach
4	chr5:43106400-43110800	Weak transcription	Thymus	Thymus
5	chr5:43106400-43116200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:43106400-43120400	Weak transcription	Fetal Intestine Small	intestine
7	chr5:43106600-43110800	Weak transcription	HepG2	liver
8	chr5:43106600-43111200	Weak transcription	K562	blood
9	chr5:43106600-43120400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:43108600-43111800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr5:43108800-43110600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr5:43108800-43111200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:43108800-43111600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr5:43109000-43111400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:43109000-43111400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr5:43109200-43111600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr5:43109400-43111400	Enhancers	Primary T cells from cord blood	blood
18	chr5:43109400-43111600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr5:43109600-43111600	Enhancers	GM12878-XiMat	blood
20	chr5:43110200-43110600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:43110200-43111200	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr5:43110200-43111600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr5:43110200-43111800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr5:43110400-43110600	Enhancers	Fetal Intestine Large	intestine
25	chr5:43110400-43111200	Enhancers	Fetal Thymus	thymus

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