Variant report

Variant	rs12261830
Chromosome Location	chr10:44101913-44101914
allele	C/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	GABPA	chr10:44101624-44102061	HepG2	liver:	n/a	chr10:44101858-44101865
2	ETS1	chr10:44101555-44102130	K562	blood:	n/a	chr10:44101853-44101863 chr10:44101855-44101864 chr10:44101733-44101744
3	POLR2A	chr10:44101802-44102055	HepG2	liver:	n/a	n/a
4	POLR2A	chr10:44101688-44102327	A549	lung:	n/a	n/a
5	HDAC2	chr10:44101709-44102057	K562	blood:	n/a	n/a
6	MYC	chr10:44101608-44102934	K562	blood:	n/a	n/a
7	E2F6	chr10:44101774-44102142	K562	blood:	n/a	n/a
8	POLR2A	chr10:44101641-44102185	GM12878	blood:	n/a	n/a
9	RCOR1	chr10:44101638-44102088	Hela-S3	cervix:	n/a	n/a
10	SPI1	chr10:44101693-44101970	GM12878	blood:	n/a	chr10:44101856-44101865 chr10:44101735-44101748
11	MYC	chr10:44101601-44102965	K562	blood:	n/a	n/a
12	TAF1	chr10:44101689-44102085	SK-N-SH	brain:	n/a	n/a
13	ZEB1	chr10:44101787-44102005	GM12878	blood:	n/a	n/a
14	GABPA	chr10:44101438-44102371	SK-N-SH	brain:	n/a	chr10:44101858-44101865 chr10:44102360-44102369
15	USF1	chr10:44101722-44101962	H1-hESC	embryonic stem cell:	n/a	n/a
16	TBL1XR1	chr10:44101542-44102118	K562	blood:	n/a	n/a
17	CBX3	chr10:44101381-44102293	K562	blood:	n/a	n/a
18	MYC	chr10:44101836-44102175	GM12878	blood:	n/a	n/a
19	TAF1	chr10:44101656-44102145	ECC-1	luminal epithelium:	n/a	n/a
20	USF1	chr10:44101757-44102067	SK-N-SH	brain:	n/a	chr10:44102038-44102054
21	GABPA	chr10:44101407-44102315	HL-60	blood:	n/a	chr10:44101858-44101865
22	GABPA	chr10:44101680-44102003	Hela-S3	cervix:	n/a	chr10:44101858-44101865
23	POLR2A	chr10:44101655-44102423	SK-N-SH	brain:	n/a	n/a
24	ETS1	chr10:44101710-44102088	K562	blood:	n/a	chr10:44101853-44101863 chr10:44101855-44101864 chr10:44101733-44101744
25	TBL1XR1	chr10:44101734-44102030	K562	blood:	n/a	n/a
26	TAF1	chr10:44101734-44102062	HepG2	liver:	n/a	n/a
27	ELF1	chr10:44101558-44102119	K562	blood:	n/a	chr10:44101856-44101865 chr10:44101854-44101867 chr10:44101842-44101854
28	E2F6	chr10:44101644-44102181	A549	lung:	n/a	n/a
29	GATA3	chr10:44101145-44101955	MCF-7	breast:	n/a	n/a
30	EBF1	chr10:44101768-44102299	GM12878	blood:	n/a	n/a
31	BCLAF1	chr10:44101644-44102012	GM12878	blood:	n/a	chr10:44101839-44101848 chr10:44101855-44101864
32	CTCF	chr10:44101883-44101937	MCF-7	breast:	n/a	n/a
33	HEY1	chr10:44101693-44102663	K562	blood:	n/a	n/a
34	RCOR1	chr10:44101651-44102069	K562	blood:	n/a	n/a
35	ELF1	chr10:44101504-44102338	GM12878	blood:	n/a	chr10:44101856-44101865 chr10:44101854-44101867 chr10:44101842-44101854
36	POLR2A	chr10:44101612-44102240	ProgFib	skin:	n/a	n/a
37	POLR2A	chr10:44101717-44102315	H1-hESC	embryonic stem cell:	n/a	n/a
38	HEY1	chr10:44101740-44102906	K562	blood:	n/a	n/a
39	TAF1	chr10:44101693-44101995	H1-neurons	neurons:	n/a	n/a
40	GABPA	chr10:44101633-44102174	H1-hESC	embryonic stem cell:	n/a	chr10:44101858-44101865
41	SIN3AK20	chr10:44101730-44102063	SK-N-SH	brain:	n/a	n/a
42	ZNF143	chr10:44101651-44102045	Hela-S3	cervix:	n/a	chr10:44101824-44101833 chr10:44101822-44101840
43	USF1	chr10:44101740-44101981	HepG2	liver:	n/a	n/a
44	POLR2A	chr10:44101735-44102189	HepG2	liver:	n/a	n/a
45	CHD2	chr10:44101610-44102069	K562	blood:	n/a	n/a
46	MAX	chr10:44101602-44102715	A549	lung:	n/a	n/a
47	BHLHE40	chr10:44101415-44102130	K562	blood:	n/a	chr10:44102038-44102054
48	E2F6	chr10:44101444-44103059	K562	blood:	n/a	chr10:44102360-44102369
49	TAF1	chr10:44101768-44102050	GM12891	blood:	n/a	n/a
50	POLR2A	chr10:44101716-44102773	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:44100612..44103408-chr10:44143126..44145241,3	MCF-7	breast:
2	chr10:44068620..44071892-chr10:44099602..44104778,6	MCF-7	breast:
3	chr10:43902834..43905281-chr10:44101183..44103050,2	MCF-7	breast:
4	chr10:43891174..43892847-chr10:44101479..44103589,2	K562	blood:
5	chr10:44100401..44102576-chr10:44125762..44128541,3	MCF-7	breast:
6	chr10:44101689..44104570-chr10:44142385..44144867,2	K562	blood:
7	chr10:43901770..43904893-chr10:44100789..44103373,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF487P-7	chr10:44101867-44101994	NONHSAT012974

Variant related genes	Relation type
CAP1P2	TF binding region
ENSG00000196793	Chromatin interaction
ENSG00000169740	Chromatin interaction
ENSG00000238263	Chromatin interaction
ENSG00000169813	Chromatin interaction
ENSG00000237389	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12261773	1.00[AFR][1000 genomes]
rs58624696	0.81[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv947897	chr10:44098895-44102321	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr10:44101200-44102200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr10:44101200-44102600	Active TSS	Brain Cingulate Gyrus	brain
3	chr10:44101200-44102600	Active TSS	Colon Smooth Muscle	Colon
4	chr10:44101200-44102800	Enhancers	Fetal Heart	heart
5	chr10:44101200-44103000	Active TSS	Brain Angular Gyrus	brain
6	chr10:44101400-44102000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr10:44101400-44102000	Enhancers	Fetal Brain Male	brain
8	chr10:44101400-44102200	Active TSS	Brain Germinal Matrix	brain
9	chr10:44101400-44102200	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr10:44101400-44102400	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr10:44101400-44102400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr10:44101400-44102400	Active TSS	Brain Substantia Nigra	brain
13	chr10:44101400-44102400	Active TSS	Colonic Mucosa	Colon
14	chr10:44101400-44102400	Active TSS	Duodenum Mucosa	Duodenum
15	chr10:44101400-44102400	Active TSS	Fetal Brain Female	brain
16	chr10:44101400-44102400	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr10:44101400-44102400	Active TSS	Hela-S3	cervix
18	chr10:44101400-44102400	Active TSS	Osteobl	bone
19	chr10:44101400-44102600	Active TSS	Rectal Smooth Muscle	rectum
20	chr10:44101400-44103000	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr10:44101400-44103000	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr10:44101400-44103000	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr10:44101600-44102000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr10:44101600-44102000	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr10:44101600-44102000	Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr10:44101600-44102000	Enhancers	Stomach Mucosa	stomach
27	chr10:44101600-44102200	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr10:44101600-44102200	Active TSS	Primary T cells from cord blood	blood
29	chr10:44101600-44102200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr10:44101600-44102200	Active TSS	Thymus	Thymus
31	chr10:44101600-44102200	Active TSS	NH-A	brain
32	chr10:44101600-44102400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr10:44101600-44102400	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr10:44101600-44102400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr10:44101600-44102400	Active TSS	Aorta	Aorta
36	chr10:44101600-44102400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr10:44101600-44102400	Active TSS	Fetal Intestine Large	intestine
38	chr10:44101600-44102400	Active TSS	Fetal Lung	lung
39	chr10:44101600-44102400	Active TSS	Fetal Thymus	thymus
40	chr10:44101600-44102600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr10:44101600-44102600	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr10:44101600-44102600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr10:44101600-44102600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr10:44101600-44102600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr10:44101600-44102600	Active TSS	Lung	lung
46	chr10:44101600-44102600	Active TSS	Right Atrium	heart
47	chr10:44101600-44102600	Active TSS	NHEK	skin
48	chr10:44101600-44102800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr10:44101600-44102800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr10:44101600-44102800	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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