Variant report

Variant	rs1319792
Chromosome Location	chr8:126026060-126026061
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126019244..126022552-chr8:126025772..126029082,3	MCF-7	breast:
2	chr8:126024478..126026122-chr8:126035947..126038156,2	MCF-7	breast:
3	chr8:126024476..126026367-chr8:126035002..126037151,2	K562	blood:
4	chr8:125550286..125552780-chr8:126023711..126026252,2	MCF-7	breast:
5	chr8:126009562..126013092-chr8:126024583..126027089,5	MCF-7	breast:
6	chr8:126023202..126026659-chr8:126034070..126037964,3	K562	blood:
7	chr8:126025558..126027520-chr8:126029948..126032689,2	K562	blood:
8	chr8:126010374..126012680-chr8:126023206..126027775,5	MCF-7	breast:
9	chr8:125868823..125870506-chr8:126025188..126027872,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF572-3	chr8:126024693-126027169	ucscGeneNc_uc003yrq_1

No data

Variant related genes	Relation type
ENSG00000147684	Chromatin interaction
ENSG00000104549	Chromatin interaction
ENSG00000253513	Chromatin interaction
ENSG00000255080	Chromatin interaction
ENSG00000147687	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10086441	0.94[ASN][1000 genomes]
rs10087191	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10087246	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10092712	0.83[CEU][hapmap]
rs10096319	0.80[CEU][hapmap]
rs10102066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102230	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10103150	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10216429	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10216437	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10481152	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1156712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1156713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12542195	0.82[CEU][hapmap]
rs12542833	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12543024	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12548159	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12548192	0.86[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12550607	0.90[JPT][hapmap]
rs12676128	0.83[CEU][hapmap];0.80[AMR][1000 genomes]
rs12682006	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13249949	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13251808	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13251846	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13257850	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13263702	0.88[CEU][hapmap]
rs13265195	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16900177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900238	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900316	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2033130	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2217132	0.83[CEU][hapmap]
rs2288312	0.88[CEU][hapmap]
rs2303522	0.88[CEU][hapmap]
rs2382998	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2384921	0.82[CEU][hapmap];0.84[CHB][hapmap]
rs28670937	0.89[ASN][1000 genomes]
rs28706061	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28760092	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28873392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36090120	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3750234	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750235	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750236	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750237	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3793402	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3793447	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs3860845	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4007685	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4347009	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4870932	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4870933	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470326	0.88[CEU][hapmap]
rs6470327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651230	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6989556	0.88[CEU][hapmap]
rs6989560	0.86[CHB][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7001228	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7003069	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7007960	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008915	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7018283	0.85[ASN][1000 genomes]
rs7813917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7825911	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7832609	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9297707	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9297708	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9297709	0.83[CEU][hapmap]
rs966946	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126011800-126034000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr8:126012400-126029200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:126012600-126027000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr8:126012600-126029000	Weak transcription	Colonic Mucosa	Colon
5	chr8:126013200-126028200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr8:126013200-126029200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:126013400-126029200	Weak transcription	Lung	lung
8	chr8:126013400-126029200	Weak transcription	Spleen	Spleen
9	chr8:126013400-126029400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:126013400-126040400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr8:126013400-126042600	Weak transcription	Right Ventricle	heart
12	chr8:126013600-126028800	Weak transcription	Thymus	Thymus
13	chr8:126013600-126052200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:126013800-126029000	Weak transcription	Ovary	ovary
15	chr8:126014200-126026200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:126014200-126029200	Weak transcription	Fetal Intestine Small	intestine
17	chr8:126014400-126027000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr8:126014400-126029000	Weak transcription	Aorta	Aorta
19	chr8:126014400-126029000	Weak transcription	Fetal Stomach	stomach
20	chr8:126014400-126029200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:126014400-126029800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:126014400-126031400	Strong transcription	NHDF-Ad	bronchial
23	chr8:126014600-126044000	Weak transcription	Stomach Mucosa	stomach
24	chr8:126015400-126029400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:126015400-126036800	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr8:126015400-126037400	Strong transcription	A549	lung
27	chr8:126015400-126037600	Strong transcription	HSMM	muscle
28	chr8:126015400-126098000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:126015600-126029000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:126015600-126029000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:126015600-126031400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:126015600-126031600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:126015600-126037000	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:126015600-126039000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr8:126015600-126041000	Strong transcription	Fetal Thymus	thymus
36	chr8:126015800-126037400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:126016000-126027000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:126016000-126041400	Strong transcription	Liver	Liver
39	chr8:126016400-126036800	Strong transcription	K562	blood
40	chr8:126016600-126036400	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:126017000-126035400	Weak transcription	Colon Smooth Muscle	Colon
42	chr8:126017200-126036800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:126017600-126032400	Strong transcription	Fetal Muscle Leg	muscle
44	chr8:126017600-126037600	Strong transcription	Fetal Muscle Trunk	muscle
45	chr8:126017800-126036800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:126017800-126037400	Strong transcription	HUVEC	blood vessel
47	chr8:126017800-126038400	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr8:126018000-126026800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:126018000-126037800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:126018400-126027800	Strong transcription	GM12878-XiMat	blood

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