Variant report

Variant	rs28441126
Chromosome Location	chr8:126443210-126443211
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	chr8:126441302-126444624	NB4	blood:	n/a	n/a
2	SMC3	chr8:126440994-126445244	SK-N-SH	brain:	n/a	chr8:126444444-126444458 chr8:126445127-126445137 chr8:126442868-126442878 chr8:126441364-126441372 chr8:126442236-126442246
3	POLR2A	chr8:126441705-126443695	A549	lung:	n/a	n/a
4	POLR2A	chr8:126441783-126444482	GM12892	blood:	n/a	n/a
5	SMARCB1	chr8:126441266-126444621	Hela-S3	cervix:	n/a	chr8:126442524-126442533
6	POLR2A	chr8:126441146-126444545	K562	blood:	n/a	n/a
7	ZBTB7A	chr8:126443155-126443647	K562	blood:	n/a	n/a
8	POLR2A	chr8:126441280-126446423	Hela-S3	cervix:	n/a	n/a
9	SMARCC1	chr8:126441764-126444435	Hela-S3	cervix:	n/a	chr8:126442524-126442533
10	TAF1	chr8:126442836-126444243	K562	blood:	n/a	n/a
11	JUN	chr8:126441105-126445214	K562	blood:	n/a	chr8:126442097-126442106 chr8:126441646-126441655 chr8:126441142-126441154 chr8:126444753-126444765 chr8:126442520-126442531 chr8:126442524-126442533 chr8:126441534-126441543
12	POLR2A	chr8:126441272-126444905	GM19099	blood:	n/a	n/a
13	TAF1	chr8:126441337-126443272	A549	lung:	n/a	n/a
14	POLR2A	chr8:126441357-126443572	HUVEC	blood vessel:	n/a	n/a
15	HCFC1	chr8:126443160-126443234	K562	blood:	n/a	n/a
16	ELF1	chr8:126441167-126445416	MCF-7	breast:	n/a	chr8:126442808-126442817 chr8:126442814-126442823 chr8:126443062-126443074 chr8:126442816-126442828 chr8:126442810-126442822
17	REST	chr8:126440902-126445170	H1-neurons	neurons:	n/a	chr8:126443511-126443524 chr8:126441814-126441834 chr8:126442772-126442785 chr8:126443514-126443527 chr8:126444327-126444340 chr8:126442059-126442077
18	JUND	chr8:126441175-126444754	MCF-7	breast:	n/a	chr8:126442522-126442533 chr8:126442097-126442106 chr8:126441646-126441655 chr8:126442520-126442531 chr8:126442524-126442533 chr8:126441534-126441543
19	YY1	chr8:126443105-126444351	ECC-1	luminal epithelium:	n/a	chr8:126443850-126443861
20	POLR2A	chr8:126443179-126443592	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr8:126443095-126443644	A549	lung:	n/a	n/a
22	MAX	chr8:126440986-126445378	A549	lung:	n/a	chr8:126445237-126445247 chr8:126441515-126441524 chr8:126441515-126441524 chr8:126441514-126441525 chr8:126441514-126441524 chr8:126441515-126441525 chr8:126441846-126441853 chr8:126441517-126441526 chr8:126443763-126443772 chr8:126441848-126441857 chr8:126441515-126441524
23	RAD21	chr8:126441332-126445623	IMR90	lung:	n/a	chr8:126444440-126444459 chr8:126442868-126442878 chr8:126441997-126442010
24	E2F4	chr8:126441341-126443370	K562	blood:	n/a	chr8:126442685-126442694 chr8:126441506-126441516 chr8:126442809-126442819 chr8:126442812-126442822 chr8:126442429-126442438 chr8:126442231-126442240 chr8:126442133-126442145
25	POLR2A	chr8:126441319-126446312	Hela-S3	cervix:	n/a	n/a
26	ELF1	chr8:126443206-126444639	GM12878	blood:	n/a	n/a
27	MAX	chr8:126441069-126444653	A549	lung:	n/a	chr8:126441515-126441524 chr8:126441515-126441524 chr8:126441514-126441525 chr8:126441514-126441524 chr8:126441515-126441525 chr8:126441846-126441853 chr8:126441517-126441526 chr8:126443763-126443772 chr8:126441848-126441857 chr8:126441515-126441524
28	POLR2A	chr8:126441313-126443610	HepG2	liver:	n/a	n/a
29	ZBTB7A	chr8:126443167-126444392	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr8:126441780-126444480	GM12878	blood:	n/a	n/a
31	CTCF	chr8:126442980-126443270	GM12871	blood:	n/a	n/a
32	TBL1XR1	chr8:126443170-126443326	K562	blood:	n/a	n/a
33	RAD21	chr8:126441039-126445579	SK-N-SH	brain:	n/a	chr8:126444440-126444459 chr8:126442868-126442878 chr8:126441997-126442010
34	UBTF	chr8:126441205-126444611	K562	blood:	n/a	n/a
35	POLR2A	chr8:126440845-126451319	HL-60	blood:	n/a	n/a
36	CTCF	chr8:126443073-126445472	SK-N-SH	brain:	n/a	chr8:126444442-126444460 chr8:126444444-126444457 chr8:126444437-126444458
37	POLR2A	chr8:126441342-126445587	MCF10A-Er-Src	breast:	n/a	n/a
38	SIN3AK20	chr8:126440930-126445266	MCF-7	breast:	n/a	n/a
39	POLR2A	chr8:126442910-126443275	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr8:126441222-126444469	MCF-7	breast:	n/a	n/a
41	NR2F2	chr8:126441280-126445042	MCF-7	breast:	n/a	n/a
42	CREB1	chr8:126441669-126443230	GM12878	blood:	n/a	n/a
43	MAX	chr8:126441314-126445144	NB4	blood:	n/a	chr8:126441515-126441524 chr8:126441515-126441524 chr8:126441514-126441525 chr8:126441514-126441524 chr8:126441515-126441525 chr8:126441846-126441853 chr8:126441517-126441526 chr8:126443763-126443772 chr8:126441848-126441857 chr8:126441515-126441524
44	SIN3AK20	chr8:126441188-126444585	MCF-7	breast:	n/a	n/a
45	FOXP2	chr8:126443079-126443623	PFSK-1	brain:	n/a	n/a
46	MXI1	chr8:126440846-126445919	SK-N-SH	brain:	n/a	chr8:126441516-126441525 chr8:126442841-126442856 chr8:126441514-126441523
47	CHD1	chr8:126441769-126445166	GM12878	blood:	n/a	chr8:126442049-126442059
48	MAX	chr8:126443105-126443570	K562	blood:	n/a	n/a
49	MAX	chr8:126441188-126444660	ECC-1	luminal epithelium:	n/a	chr8:126441515-126441524 chr8:126441515-126441524 chr8:126441514-126441525 chr8:126441514-126441524 chr8:126441515-126441525 chr8:126441846-126441853 chr8:126441517-126441526 chr8:126443763-126443772 chr8:126441848-126441857 chr8:126441515-126441524
50	POLR2A	chr8:126441144-126445546	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:126281825..126283978-chr8:126442164..126443779,2	K562	blood:
2	chr8:126441642..126443564-chr8:127568775..127570380,2	MCF-7	breast:
3	chr8:126242033..126243257-chr8:126442565..126443586,3	MCF-7	breast:
4	chr8:126361514..126365167-chr8:126440219..126443605,3	K562	blood:
5	chr8:126282715..126285336-chr8:126442503..126444209,2	MCF-7	breast:
6	chr8:126319216..126321150-chr8:126442622..126444295,2	MCF-7	breast:
7	chr8:126112294..126114961-chr8:126440449..126443868,3	MCF-7	breast:
8	chr8:126441684..126444249-chr8:127568995..127571626,4	MCF-7	breast:
9	chr19:36544227..36545755-chr8:126441431..126444271,2	MCF-7	breast:
10	chr8:126126335..126143313-chr8:126439680..126445836,35	MCF-7	breast:
11	chr8:126103818..126106100-chr8:126441528..126444004,2	K562	blood:
12	chr8:126100915..126106135-chr8:126441974..126444669,8	MCF-7	breast:
13	chr8:126442729..126444290-chr8:126611048..126613106,2	MCF-7	breast:
14	chr22:50963482..50964232-chr8:126442574..126443424,2	HCT-116	colon:
15	chr8:126101740..126106410-chr8:126441508..126444796,5	MCF-7	breast:
16	chr1:228270694..228272754-chr8:126441550..126443960,2	MCF-7	breast:

Variant related genes	Relation type
TRIB1	TF binding region
ENSG00000143761	Chromatin interaction
ENSG00000161277	Chromatin interaction
ENSG00000254286	Chromatin interaction
ENSG00000164961	Chromatin interaction
ENSG00000254010	Chromatin interaction
ENSG00000156831	Chromatin interaction
ENSG00000242170	Chromatin interaction
ENSG00000254431	Chromatin interaction
ENSG00000168672	Chromatin interaction
ENSG00000130489	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10104564	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	esv3366048	chr8:126440820-126444518	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	33 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	chr8:126441200-126443600	Active TSS	Primary T killer memory cells from peripheral blood	blood
2	chr8:126441200-126444600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:126441200-126444600	Active TSS	Brain Angular Gyrus	brain
4	chr8:126441200-126444600	Active TSS	Fetal Lung	lung
5	chr8:126441200-126444800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:126441200-126444800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:126441200-126444800	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr8:126441200-126444800	Active TSS	Placenta Amnion	Placenta Amnion
9	chr8:126441200-126444800	Active TSS	Right Ventricle	heart
10	chr8:126441200-126444800	Active TSS	HSMM	muscle
11	chr8:126441200-126444800	Active TSS	HSMMtube	muscle
12	chr8:126441200-126444800	Active TSS	NHDF-Ad	bronchial
13	chr8:126441200-126445000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:126441200-126445000	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr8:126441200-126445000	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr8:126441200-126445000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr8:126441200-126445200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:126441200-126445600	Active TSS	Gastric	stomach
19	chr8:126441200-126445600	Active TSS	Small Intestine	intestine
20	chr8:126441400-126443400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr8:126441400-126443400	Weak transcription	Fetal Heart	heart
22	chr8:126441400-126443600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:126441400-126443600	Active TSS	Fetal Brain Female	brain
24	chr8:126441400-126444600	Active TSS	Colon Smooth Muscle	Colon
25	chr8:126441400-126444600	Active TSS	Fetal Stomach	stomach
26	chr8:126441400-126444800	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr8:126441400-126444800	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr8:126441400-126444800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:126441400-126444800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:126441400-126444800	Active TSS	Brain Anterior Caudate	brain
31	chr8:126441400-126444800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:126441400-126444800	Active TSS	Fetal Kidney	kidney
33	chr8:126441400-126444800	Active TSS	Stomach Mucosa	stomach
34	chr8:126441400-126445000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:126441400-126445000	Active TSS	H9 Cell Line	embryonic stem cell
36	chr8:126441400-126445000	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr8:126441400-126445000	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr8:126441400-126445000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:126441400-126445000	Active TSS	Aorta	Aorta
40	chr8:126441400-126445600	Active TSS	Lung	lung
41	chr8:126441600-126443600	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr8:126441600-126443600	Active TSS	Brain Hippocampus Middle	brain
43	chr8:126441600-126443600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr8:126441600-126443600	Active TSS	Fetal Muscle Trunk	muscle
45	chr8:126441600-126443600	Active TSS	Fetal Muscle Leg	muscle
46	chr8:126441600-126443800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr8:126441600-126443800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:126441600-126443800	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr8:126441600-126444000	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr8:126441600-126444600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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