Variant report

Variant	rs679610
Chromosome Location	chr10:5947765-5947766
allele	A/G
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	chr10:5947555-5947795	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:5940356..5945616-chr10:5946052..5950228,5	K562	blood:
2	chr10:5944902..5949074-chr10:5954801..5958061,6	K562	blood:

Variant related genes	Relation type
FBXO18	TF binding region
ENSG00000134452	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1052420	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.99[ASN][1000 genomes]
rs1323659	0.82[CEU][hapmap]
rs1707228	1.00[CHB][hapmap];0.83[JPT][hapmap];0.99[ASN][1000 genomes]
rs2253422	0.85[CHB][hapmap]
rs2274030	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs2669124	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2669127	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs2761269	0.99[ASN][1000 genomes]
rs2942348	0.99[ASN][1000 genomes]
rs2985042	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs2985043	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.99[ASN][1000 genomes]
rs2985044	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.99[ASN][1000 genomes]
rs584000	0.97[ASN][1000 genomes]
rs587620	0.99[ASN][1000 genomes]
rs587655	0.99[ASN][1000 genomes]
rs593026	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs596156	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs599394	0.88[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.99[ASN][1000 genomes]
rs600706	0.97[ASN][1000 genomes]
rs608197	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.99[ASN][1000 genomes]
rs609269	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs610335	0.99[ASN][1000 genomes]
rs615879	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.99[ASN][1000 genomes]
rs617165	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.99[ASN][1000 genomes]
rs622252	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.99[ASN][1000 genomes]
rs622488	0.99[ASN][1000 genomes]
rs625073	0.94[ASN][1000 genomes]
rs626040	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.99[ASN][1000 genomes]
rs627303	0.99[ASN][1000 genomes]
rs628175	0.97[ASN][1000 genomes]
rs628219	0.97[ASN][1000 genomes]
rs628234	0.97[ASN][1000 genomes]
rs628844	0.83[CEU][hapmap];0.85[JPT][hapmap];0.99[ASN][1000 genomes]
rs631538	0.87[ASN][1000 genomes]
rs632639	0.82[EUR][1000 genomes]
rs641034	0.83[EUR][1000 genomes]
rs644474	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs646406	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs646490	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647391	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661411	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.99[ASN][1000 genomes]
rs662701	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.99[ASN][1000 genomes]
rs664577	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs664842	0.99[ASN][1000 genomes]
rs665364	0.84[JPT][hapmap]
rs666831	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs672219	0.87[ASN][1000 genomes]
rs672624	0.84[ASN][1000 genomes]
rs673496	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs673678	0.99[ASN][1000 genomes]
rs675416	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs682555	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs684557	1.00[CHB][hapmap];0.90[JPT][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687191	0.99[ASN][1000 genomes]
rs7071536	0.84[CHB][hapmap]
rs7075778	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs7091817	0.84[CHB][hapmap]
rs792342	0.95[ASN][1000 genomes]
rs792347	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs792349	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs811561	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.99[ASN][1000 genomes]
rs9329328	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9424023	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv825229	chr10:5886905-5967697	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5933200-5948200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:5933200-5949800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr10:5933200-5977000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr10:5933400-5948200	Weak transcription	Ovary	ovary
5	chr10:5933400-5948400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr10:5933400-5949800	Weak transcription	Fetal Brain Male	brain
7	chr10:5933600-5948200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr10:5933600-5951600	Weak transcription	Stomach Mucosa	stomach
9	chr10:5934800-5948000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:5935600-5962000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr10:5936600-5952600	Weak transcription	Hela-S3	cervix
12	chr10:5936800-5953200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr10:5937200-5948000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:5937200-5948000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr10:5937200-5948400	Weak transcription	Fetal Kidney	kidney
16	chr10:5937400-5948200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr10:5937800-5948000	Weak transcription	Brain Angular Gyrus	brain
18	chr10:5937800-5948200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr10:5938000-5947800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr10:5938000-5948000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr10:5938000-5948200	Weak transcription	HMEC	breast
22	chr10:5938000-5950800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr10:5938200-5947800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr10:5938200-5948000	Weak transcription	Aorta	Aorta
25	chr10:5938200-5950800	Weak transcription	NH-A	brain
26	chr10:5938400-5947800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr10:5938400-5948000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr10:5938600-5947800	Weak transcription	HUVEC	blood vessel
29	chr10:5938600-5948000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr10:5938600-5948200	Weak transcription	Brain Substantia Nigra	brain
31	chr10:5938800-5947800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr10:5938800-5948000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr10:5939400-5948000	Weak transcription	Primary B cells from cord blood	blood
34	chr10:5939400-5948000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr10:5939400-5950800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr10:5939600-5948000	Weak transcription	NHLF	lung
37	chr10:5940200-5948000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr10:5940200-5948000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr10:5940200-5948000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr10:5940200-5948000	Weak transcription	Colonic Mucosa	Colon
41	chr10:5940400-5947800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr10:5940400-5947800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr10:5940400-5947800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr10:5940400-5947800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr10:5940400-5947800	Weak transcription	Colon Smooth Muscle	Colon
46	chr10:5940400-5947800	Weak transcription	Dnd41	blood
47	chr10:5940400-5947800	Weak transcription	Osteobl	bone
48	chr10:5940400-5948000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr10:5940400-5948000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr10:5940400-5948000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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