Variant report

Variant	rs61859002
Chromosome Location	chr10:43931002-43931003
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:43930733-43932910	HepG2	liver:	n/a	n/a
2	CBX3	chr10:43930725-43931233	K562	blood:	n/a	n/a
3	POLR2A	chr10:43930870-43931184	HepG2	liver:	n/a	n/a
4	ZNF384	chr10:43930363-43931096	K562	blood:	n/a	n/a
5	POLR2A	chr10:43930361-43931066	MCF10A-Er-Src	breast:	n/a	n/a
6	HEY1	chr10:43930841-43931085	HepG2	liver:	n/a	n/a
7	POLR2A	chr10:43930408-43931182	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr10:43930332-43931241	K562	blood:	n/a	n/a
9	POLR2A	chr10:43930938-43931230	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:43889891..43893674-chr10:43930869..43934431,5	MCF-7	breast:
2	chr10:43930579..43934633-chr10:43949587..43954210,8	K562	blood:
3	chr10:43912793..43917262-chr10:43929806..43934635,10	MCF-7	breast:
4	chr10:43913553..43915356-chr10:43929097..43931961,3	K562	blood:
5	chr10:43901784..43908257-chr10:43928243..43934263,17	MCF-7	breast:
6	chr10:43930452..43932223-chr17:43227607..43229368,2	K562	blood:
7	chr10:43915403..43918859-chr10:43929644..43933431,7	K562	blood:
8	chr10:43901370..43906375-chr10:43928042..43934083,16	MCF-7	breast:
9	chr10:43914713..43918981-chr10:43928825..43933676,11	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF487	TF binding region
ENSG00000169813	Chromatin interaction
ENSG00000221400	Chromatin interaction
ENSG00000230555	Chromatin interaction
ENSG00000252532	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10793431	0.81[AMR][1000 genomes]
rs10899794	0.81[ASN][1000 genomes]
rs10899797	0.89[ASN][1000 genomes]
rs10899798	0.81[AMR][1000 genomes]
rs10899799	0.81[AMR][1000 genomes]
rs11238526	0.88[ASN][1000 genomes]
rs1126709	0.92[ASN][1000 genomes]
rs12257917	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1416226	0.81[AMR][1000 genomes]
rs2066043	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2066044	0.84[AMR][1000 genomes]
rs2247860	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2247979	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2247981	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2248332	0.82[AMR][1000 genomes]
rs2248335	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2248469	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2248931	0.80[ASN][1000 genomes]
rs2250444	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2252783	0.81[AMR][1000 genomes]
rs2252785	0.81[AMR][1000 genomes]
rs2252800	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2255967	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2260200	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2261636	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2265886	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2265887	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2265888	0.88[AFR][1000 genomes]
rs2265952	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2265953	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2265954	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2460558	0.82[ASN][1000 genomes]
rs2492404	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2492405	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2492407	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2492408	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2492409	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2492410	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2492411	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2493648	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2819026	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2819032	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2819034	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2946992	0.82[ASN][1000 genomes]
rs2999276	0.81[AMR][1000 genomes]
rs2999286	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2999287	0.83[AMR][1000 genomes]
rs3000700	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4551711	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4559639	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4584528	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4597022	0.81[AMR][1000 genomes]
rs4948726	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56059584	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60739384	0.82[ASN][1000 genomes]
rs6421744	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7069214	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7070029	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7088430	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7089290	0.92[AMR][1000 genomes]
rs7092599	0.81[AMR][1000 genomes]
rs7894374	0.81[AMR][1000 genomes]
rs7905676	0.92[ASN][1000 genomes]
rs7914140	0.83[AMR][1000 genomes]
rs9422371	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription 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 miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv825354	chr10:43883418-43949936	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv825356	chr10:43893080-43946515	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
7	esv3448813	chr10:43919995-43950867	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43916800-43931400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr10:43916800-43931600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr10:43916800-43931600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:43917000-43931600	Weak transcription	Fetal Brain Female	brain
5	chr10:43917200-43931600	Weak transcription	Brain Anterior Caudate	brain
6	chr10:43917400-43931600	Weak transcription	Brain Angular Gyrus	brain
7	chr10:43917600-43931600	Weak transcription	Right Ventricle	heart
8	chr10:43920200-43931600	Weak transcription	Fetal Lung	lung
9	chr10:43921800-43931200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr10:43923600-43931400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr10:43923800-43931600	Weak transcription	Primary T cells from cord blood	blood
12	chr10:43925800-43931600	Weak transcription	Left Ventricle	heart
13	chr10:43926400-43931400	Weak transcription	Colonic Mucosa	Colon
14	chr10:43927800-43931400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:43928800-43931600	Weak transcription	Fetal Intestine Small	intestine
16	chr10:43929400-43931600	Weak transcription	Fetal Stomach	stomach
17	chr10:43929800-43931600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:43929800-43931600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr10:43930000-43931600	Weak transcription	NHDF-Ad	bronchial
20	chr10:43930400-43931200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr10:43930400-43931400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr10:43930400-43931400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr10:43930400-43931600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr10:43930400-43931600	Enhancers	Primary B cells from peripheral blood	blood
25	chr10:43930400-43931600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr10:43930400-43931600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr10:43930400-43931600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr10:43930400-43931600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr10:43930400-43933000	Active TSS	Hela-S3	cervix
30	chr10:43930600-43931200	Flanking Active TSS	K562	blood
31	chr10:43930600-43931400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr10:43930600-43931400	Enhancers	Fetal Intestine Large	intestine
33	chr10:43930600-43931400	Enhancers	Fetal Muscle Trunk	muscle
34	chr10:43930600-43931400	Enhancers	Pancreas	Pancrea
35	chr10:43930600-43931600	Enhancers	Primary B cells from cord blood	blood
36	chr10:43930600-43931600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr10:43930600-43931600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr10:43930600-43931600	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr10:43930600-43931600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr10:43930600-43933000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr10:43930800-43931200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr10:43930800-43931200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr10:43930800-43931200	Flanking Active TSS	Liver	Liver
44	chr10:43930800-43931200	Enhancers	Psoas Muscle	Psoas
45	chr10:43930800-43931200	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr10:43930800-43931200	Enhancers	Spleen	Spleen
47	chr10:43930800-43931400	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr10:43930800-43931400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr10:43930800-43931400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr10:43930800-43931600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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