Variant report

Variant	rs4870932
Chromosome Location	chr8:126019515-126019516
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr8:126019427-126020065	MCF-7	breast:	n/a	chr8:126019557-126019566 chr8:126019559-126019566 chr8:126019833-126019841

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126014428..126016789-chr8:126018572..126020682,2	K562	blood:
2	chr8:126016193..126019886-chr8:126029676..126033691,5	MCF-7	breast:
3	chr8:126009262..126012562-chr8:126016930..126019833,4	K562	blood:
4	chr8:126016981..126020286-chr8:126022949..126025104,4	MCF-7	breast:
5	chr8:126016227..126018490-chr8:126018578..126021256,2	MCF-7	breast:
6	chr1:149859050..149860817-chr8:126019264..126021671,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0196-5	chr8:126019131-126021316	l_3677_chr8:126016111-126021316_testes

No data

Variant related genes	Relation type
SQLE	TF binding region
ENSG00000104549	Chromatin interaction
ENSG00000253513	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000178096	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10086441	0.92[ASN][1000 genomes]
rs10087191	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10087246	0.99[ASN][1000 genomes]
rs10092712	0.83[CEU][hapmap]
rs10096319	0.80[CEU][hapmap]
rs10102066	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10102230	0.91[ASN][1000 genomes]
rs10103150	0.97[ASN][1000 genomes]
rs10216429	0.97[ASN][1000 genomes]
rs10216437	0.97[ASN][1000 genomes]
rs10481152	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1156712	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1156713	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12542195	0.83[CEU][hapmap]
rs12542833	0.96[ASN][1000 genomes]
rs12543024	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12548159	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12548192	0.86[CEU][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12676128	0.83[CEU][hapmap]
rs12682006	0.83[CEU][hapmap];0.87[ASN][1000 genomes]
rs1319792	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13249949	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13251808	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13251846	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13257850	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13263702	0.88[CEU][hapmap]
rs13265195	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16900177	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16900238	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16900316	0.95[ASN][1000 genomes]
rs2033130	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2217132	0.83[CEU][hapmap]
rs2288312	0.88[CEU][hapmap]
rs2303522	0.88[CEU][hapmap]
rs2382998	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2384921	0.82[CEU][hapmap]
rs28670937	0.87[ASN][1000 genomes]
rs28706061	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28760092	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28873392	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36090120	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3750234	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3750235	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3750236	0.94[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3750237	0.94[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3793402	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3793447	0.88[ASN][1000 genomes]
rs3860845	0.91[ASN][1000 genomes]
rs4007685	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4347009	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4870933	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470326	0.88[CEU][hapmap]
rs6470327	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470328	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6651230	0.83[CEU][hapmap];0.91[ASN][1000 genomes]
rs6989556	0.88[CEU][hapmap]
rs6989560	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7001228	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7003069	0.99[ASN][1000 genomes]
rs7007960	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7008915	0.87[ASN][1000 genomes]
rs7018283	0.83[ASN][1000 genomes]
rs7813917	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7825911	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832609	0.83[CEU][hapmap];0.87[ASN][1000 genomes]
rs9297707	0.99[ASN][1000 genomes]
rs9297708	0.99[ASN][1000 genomes]
rs9297709	0.83[CEU][hapmap]
rs966946	0.99[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	chr8:126012600-126019800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:126012600-126020400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:126012600-126020400	Weak transcription	Left Ventricle	heart
6	chr8:126012600-126027000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr8:126012600-126029000	Weak transcription	Colonic Mucosa	Colon
8	chr8:126013200-126019600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr8:126013200-126024200	Weak transcription	Gastric	stomach
10	chr8:126013200-126028200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:126013200-126029200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:126013400-126029200	Weak transcription	Lung	lung
13	chr8:126013400-126029200	Weak transcription	Spleen	Spleen
14	chr8:126013400-126029400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:126013400-126040400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr8:126013400-126042600	Weak transcription	Right Ventricle	heart
17	chr8:126013600-126019600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr8:126013600-126020800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:126013600-126024000	Weak transcription	Fetal Kidney	kidney
20	chr8:126013600-126024200	Weak transcription	Primary T cells from cord blood	blood
21	chr8:126013600-126028800	Weak transcription	Thymus	Thymus
22	chr8:126013600-126052200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr8:126013800-126019600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr8:126013800-126019600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr8:126013800-126020800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:126013800-126024000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr8:126013800-126024200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:126013800-126024200	Weak transcription	Esophagus	oesophagus
29	chr8:126013800-126029000	Weak transcription	Ovary	ovary
30	chr8:126014000-126020800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr8:126014200-126019800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr8:126014200-126026200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:126014200-126029200	Weak transcription	Fetal Intestine Small	intestine
34	chr8:126014400-126020400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:126014400-126024000	Weak transcription	Fetal Heart	heart
36	chr8:126014400-126027000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr8:126014400-126029000	Weak transcription	Aorta	Aorta
38	chr8:126014400-126029000	Weak transcription	Fetal Stomach	stomach
39	chr8:126014400-126029200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:126014400-126029800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr8:126014400-126031400	Strong transcription	NHDF-Ad	bronchial
42	chr8:126014600-126020000	Weak transcription	Brain Hippocampus Middle	brain
43	chr8:126014600-126020800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr8:126014600-126044000	Weak transcription	Stomach Mucosa	stomach
45	chr8:126015000-126021000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr8:126015000-126024000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr8:126015000-126024400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:126015200-126026000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:126015400-126025400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:126015400-126029400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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