Variant report

Variant	rs10087246
Chromosome Location	chr8:126027598-126027599
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:126027039-126028362	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:126019244..126022552-chr8:126025772..126029082,3	MCF-7	breast:
2	chr8:126026777..126028360-chr8:126028490..126030149,2	MCF-7	breast:
3	chr8:126010374..126012680-chr8:126023206..126027775,5	MCF-7	breast:
4	chr8:125868823..125870506-chr8:126025188..126027872,2	MCF-7	breast:

Variant related genes	Relation type
SQLE	TF binding region
ENSG00000104549	Chromatin interaction
ENSG00000253513	Chromatin interaction
ENSG00000255080	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10086441	0.94[ASN][1000 genomes]
rs10087191	1.00[ASN][1000 genomes]
rs10102066	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10102230	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10103150	0.99[ASN][1000 genomes]
rs10216429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10216437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10481152	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10956231	0.81[AMR][1000 genomes]
rs1156712	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1156713	1.00[ASN][1000 genomes]
rs12542833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12543024	0.99[ASN][1000 genomes]
rs12548159	0.98[ASN][1000 genomes]
rs12548192	0.90[CHB][hapmap];0.87[JPT][hapmap];0.98[ASN][1000 genomes]
rs12550607	0.90[JPT][hapmap]
rs12682006	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1319792	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13249949	1.00[ASN][1000 genomes]
rs13251808	1.00[ASN][1000 genomes]
rs13251846	0.99[ASN][1000 genomes]
rs13257850	1.00[ASN][1000 genomes]
rs13265195	0.91[ASN][1000 genomes]
rs16900177	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16900238	1.00[ASN][1000 genomes]
rs16900316	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs2033130	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2382998	0.91[ASN][1000 genomes]
rs2384921	0.84[CHB][hapmap]
rs28670937	0.89[ASN][1000 genomes]
rs28706061	0.81[ASN][1000 genomes]
rs28760092	1.00[ASN][1000 genomes]
rs28873392	1.00[ASN][1000 genomes]
rs36090120	0.92[ASN][1000 genomes]
rs3750234	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3750235	1.00[ASN][1000 genomes]
rs3750236	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3750237	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3793402	0.96[ASN][1000 genomes]
rs3793447	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs3860845	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4007685	1.00[ASN][1000 genomes]
rs4347009	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4870932	0.99[ASN][1000 genomes]
rs4870933	0.99[ASN][1000 genomes]
rs6470327	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6470328	1.00[ASN][1000 genomes]
rs6651230	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6989560	0.86[CHB][hapmap];1.00[ASN][1000 genomes]
rs7001228	0.90[ASN][1000 genomes]
rs7003069	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7007960	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs7008915	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7018283	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7813917	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7825911	0.99[ASN][1000 genomes]
rs7832609	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9297707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs966946	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];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:119 , 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	chr8:126012600-126029000	Weak transcription	Colonic Mucosa	Colon
4	chr8:126013200-126028200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr8:126013200-126029200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:126013400-126029200	Weak transcription	Lung	lung
7	chr8:126013400-126029200	Weak transcription	Spleen	Spleen
8	chr8:126013400-126029400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:126013400-126040400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:126013400-126042600	Weak transcription	Right Ventricle	heart
11	chr8:126013600-126028800	Weak transcription	Thymus	Thymus
12	chr8:126013600-126052200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:126013800-126029000	Weak transcription	Ovary	ovary
14	chr8:126014200-126029200	Weak transcription	Fetal Intestine Small	intestine
15	chr8:126014400-126029000	Weak transcription	Aorta	Aorta
16	chr8:126014400-126029000	Weak transcription	Fetal Stomach	stomach
17	chr8:126014400-126029200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:126014400-126029800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:126014400-126031400	Strong transcription	NHDF-Ad	bronchial
20	chr8:126014600-126044000	Weak transcription	Stomach Mucosa	stomach
21	chr8:126015400-126029400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:126015400-126036800	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr8:126015400-126037400	Strong transcription	A549	lung
24	chr8:126015400-126037600	Strong transcription	HSMM	muscle
25	chr8:126015400-126098000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:126015600-126029000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:126015600-126029000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:126015600-126031400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:126015600-126031600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:126015600-126037000	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr8:126015600-126039000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:126015600-126041000	Strong transcription	Fetal Thymus	thymus
33	chr8:126015800-126037400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:126016000-126041400	Strong transcription	Liver	Liver
35	chr8:126016400-126036800	Strong transcription	K562	blood
36	chr8:126016600-126036400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr8:126017000-126035400	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:126017200-126036800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:126017600-126032400	Strong transcription	Fetal Muscle Leg	muscle
40	chr8:126017600-126037600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr8:126017800-126036800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr8:126017800-126037400	Strong transcription	HUVEC	blood vessel
43	chr8:126017800-126038400	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:126018000-126037800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr8:126018400-126027800	Strong transcription	GM12878-XiMat	blood
46	chr8:126019200-126031600	Strong transcription	Osteobl	bone
47	chr8:126019600-126071800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:126021200-126029000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:126021200-126041200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:126021600-126029000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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