Variant report

Variant	rs6451674
Chromosome Location	chr5:43110754-43110755
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10044382	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10058350	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10058374	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10070751	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10074873	0.94[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.84[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10075647	0.94[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.83[LWK][hapmap];0.80[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10076858	0.88[EUR][1000 genomes]
rs10078527	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs10214190	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10805667	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10941607	0.87[JPT][hapmap]
rs10941608	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs10941611	0.85[ASN][1000 genomes]
rs11550287	0.87[JPT][hapmap]
rs11740797	0.80[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap]
rs11748187	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs12188691	0.87[JPT][hapmap]
rs13173064	0.83[CHD][hapmap];0.87[JPT][hapmap]
rs13176429	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13665	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1532330	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1532331	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17301375	0.94[JPT][hapmap]
rs316398	0.81[JPT][hapmap]
rs316405	0.80[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap]
rs316411	0.84[CHD][hapmap];0.94[JPT][hapmap]
rs33910990	0.88[ASN][1000 genomes]
rs35953019	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs3733839	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs3849698	0.87[JPT][hapmap]
rs3849699	0.87[JPT][hapmap]
rs4498259	0.83[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs479996	0.93[ASN][1000 genomes]
rs4866808	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4866971	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs511340	0.87[ASN][1000 genomes]
rs541143	0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs6414900	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6451672	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6451675	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs670206	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs6862639	0.83[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6864955	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6870418	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6871636	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6876746	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6884303	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6894506	0.82[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7701510	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs7709181	0.81[CHD][hapmap];0.94[JPT][hapmap]
rs7712046	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7723426	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7729529	0.94[JPT][hapmap]
rs7730004	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6451674	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 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	chr5:43108800-43111200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:43108800-43111600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr5:43109000-43111400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:43109000-43111400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr5:43109200-43111600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr5:43109400-43111400	Enhancers	Primary T cells from cord blood	blood
17	chr5:43109400-43111600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr5:43109600-43111600	Enhancers	GM12878-XiMat	blood
19	chr5:43110200-43111200	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr5:43110200-43111600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr5:43110200-43111800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr5:43110400-43111200	Enhancers	Fetal Thymus	thymus
23	chr5:43110600-43111000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr5:43110600-43111200	Weak transcription	Fetal Intestine Large	intestine

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