Variant report

Variant	rs2669122
Chromosome Location	chr10:5933336-5933337
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:5933084-5933366	MCF10A-Er-Src	breast:	n/a	n/a
2	HEY1	chr10:5932060-5933493	K562	blood:	n/a	chr10:5932150-5932165 chr10:5932125-5932140 chr10:5932557-5932572 chr10:5932551-5932566
3	WRNIP1	chr10:5932689-5933434	GM12878	blood:	n/a	n/a
4	MXI1	chr10:5929938-5933656	SK-N-SH	brain:	n/a	n/a
5	RCOR1	chr10:5932848-5933356	K562	blood:	n/a	n/a
6	POLR2A	chr10:5931380-5933554	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:5931571-5933387	GM12878	blood:	n/a	n/a
8	CUX1	chr10:5932837-5933338	K562	blood:	n/a	n/a
9	POLR2A	chr10:5931591-5933439	K562	blood:	n/a	n/a
10	POLR2A	chr10:5931431-5933473	K562	blood:	n/a	n/a
11	POLR2A	chr10:5932528-5933432	K562	blood:	n/a	n/a
12	POLR2A	chr10:5931555-5933556	HepG2	liver:	n/a	n/a
13	POLR2A	chr10:5930746-5933443	K562	blood:	n/a	n/a
14	POLR2A	chr10:5930198-5933450	HepG2	liver:	n/a	n/a
15	POLR2A	chr10:5933230-5933386	K562	blood:	n/a	n/a
16	POLR2A	chr10:5932534-5933532	GM12878	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5707419..5708953-chr10:5931052..5933501,2	MCF-7	breast:
2	chr10:5725094..5729377-chr10:5927689..5933777,6	MCF-7	breast:
3	chr10:5932395..5934386-chr10:6130743..6132352,2	K562	blood:
4	chr10:5707177..5709381-chr10:5931479..5933432,3	MCF-7	breast:
5	chr10:5853532..5857435-chr10:5928623..5934190,13	MCF-7	breast:
6	chr10:5903402..5905306-chr10:5930976..5933543,3	MCF-7	breast:
7	chr10:5931810..5933817-chr10:6018457..6020176,2	MCF-7	breast:
8	chr10:5852595..5861125-chr10:5921136..5936216,31	MCF-7	breast:
9	chr10:5930925..5933506-chr10:6244058..6246915,2	MCF-7	breast:
10	chr10:5933201..5936012-chr10:6019635..6021875,2	K562	blood:
11	chr10:5853820..5856785-chr10:5927225..5934067,15	K562	blood:
12	chr10:5931081..5933467-chr10:5942750..5946622,4	MCF-7	breast:
13	chr10:5853439..5857708-chr10:5926443..5936823,24	K562	blood:
14	chr10:5836323..5837944-chr10:5932347..5934576,2	K562	blood:
15	chr10:5725559..5728313-chr10:5930802..5933492,3	K562	blood:

No data

Variant related genes	Relation type
FBXO18	TF binding region
ANKRD16	TF binding region
ENSG00000170525	Chromatin interaction
ENSG00000134470	Chromatin interaction
ENSG00000213994	Chromatin interaction
ENSG00000272764	Chromatin interaction
ENSG00000134452	Chromatin interaction
ENSG00000057608	Chromatin interaction
ENSG00000240180	Chromatin interaction
ENSG00000196372	Chromatin interaction
ENSG00000108021	Chromatin interaction
ENSG00000134453	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs2669126	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs582359	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591510	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs591878	1.00[ASN][1000 genomes]
rs593610	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs595923	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs598331	0.90[ASN][1000 genomes]
rs603780	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs607728	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs610093	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs621628	0.98[ASN][1000 genomes]
rs622758	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs626344	0.99[ASN][1000 genomes]
rs633797	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs633928	0.99[ASN][1000 genomes]
rs633930	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs635532	0.96[ASN][1000 genomes]
rs636578	0.97[ASN][1000 genomes]
rs647945	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs649537	0.99[ASN][1000 genomes]
rs664603	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs668498	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs670856	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs672126	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs680020	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs685852	1.00[ASN][1000 genomes]
rs686854	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs688388	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs792348	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
6	nsv466724	chr10:5920836-5938544	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
7	nsv549906	chr10:5920836-5938544	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
8	esv3360468	chr10:5930971-5933519	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
9	esv3363304	chr10:5931446-5933494	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5930600-5933400	Active TSS	Ovary	ovary
2	chr10:5930600-5933600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr10:5930800-5933400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr10:5930800-5933400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr10:5931200-5933400	Active TSS	Right Atrium	heart
6	chr10:5931800-5934200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr10:5932400-5933400	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr10:5932600-5933400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:5932600-5933400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr10:5932600-5933400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr10:5932600-5933400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr10:5932600-5933400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr10:5932600-5933400	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr10:5932600-5933400	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr10:5932600-5933400	Flanking Active TSS	Brain Cingulate Gyrus	brain
16	chr10:5932600-5933400	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr10:5932600-5933400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr10:5932600-5933400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr10:5932600-5933400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr10:5932600-5933400	Flanking Active TSS	Fetal Thymus	thymus
21	chr10:5932600-5933400	Flanking Active TSS	Left Ventricle	heart
22	chr10:5932600-5933400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr10:5932600-5933400	Flanking Active TSS	NH-A	brain
24	chr10:5932600-5933600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr10:5932600-5933600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr10:5932600-5933600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr10:5932600-5933600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr10:5932600-5933600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr10:5932600-5933600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr10:5932600-5934400	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr10:5932800-5933400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr10:5932800-5933400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr10:5932800-5933400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr10:5932800-5933400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr10:5932800-5933400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr10:5932800-5933400	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr10:5932800-5933400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr10:5932800-5933400	Flanking Active TSS	Esophagus	oesophagus
39	chr10:5932800-5933400	Flanking Active TSS	Fetal Intestine Large	intestine
40	chr10:5932800-5933400	Flanking Active TSS	Fetal Kidney	kidney
41	chr10:5932800-5933400	Flanking Active TSS	Fetal Stomach	stomach
42	chr10:5932800-5933400	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr10:5932800-5933400	Flanking Active TSS	Hela-S3	cervix
44	chr10:5932800-5933400	Flanking Active TSS	HSMMtube	muscle
45	chr10:5932800-5933400	Flanking Active TSS	Osteobl	bone
46	chr10:5932800-5933600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr10:5932800-5933600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr10:5932800-5933600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr10:5932800-5933600	Flanking Active TSS	Fetal Brain Female	brain
50	chr10:5932800-5933600	Flanking Active TSS	Stomach Smooth Muscle	stomach

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