Variant report

Variant	rs4421363
Chromosome Location	chr8:126444463-126444464
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	CTCF	chr8:126444297-126444577	MCF-7	breast:	n/a	chr8:126444442-126444460 chr8:126444444-126444457 chr8:126444437-126444458
3	CEBPB	chr8:126444210-126444861	A549	lung:	n/a	chr8:126444679-126444690 chr8:126444680-126444689
4	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
5	CTCF	chr8:126444360-126444510	GM12871	blood:	n/a	chr8:126444442-126444460 chr8:126444444-126444457 chr8:126444437-126444458
6	SMC3	chr8:126444171-126444810	HepG2	liver:	n/a	chr8:126444444-126444458
7	CBX3	chr8:126443923-126445120	K562	blood:	n/a	n/a
8	CTCF	chr8:126444380-126444530	BE2_C	brain:	n/a	chr8:126444442-126444460 chr8:126444444-126444457 chr8:126444437-126444458
9	POLR2A	chr8:126443462-126451263	HepG2	liver:	n/a	n/a
10	NFATC1	chr8:126443908-126444484	GM12878	blood:	n/a	n/a
11	JUND	chr8:126443863-126445170	K562	blood:	n/a	chr8:126444753-126444765
12	RAD21	chr8:126443300-126444706	MCF-7	breast:	n/a	chr8:126444440-126444459
13	CTCF	chr8:126444380-126444530	HMF	breast:	n/a	chr8:126444442-126444460 chr8:126444444-126444457 chr8:126444437-126444458
14	CTCF	chr8:126444347-126444582	LNCaP	prostate:	n/a	chr8:126444442-126444460 chr8:126444444-126444457 chr8:126444437-126444458
15	CTCF	chr8:126444400-126444550	GM06990	blood:	n/a	chr8:126444442-126444460 chr8:126444444-126444457 chr8:126444437-126444458
16	POLR2A	chr8:126441783-126444482	GM12892	blood:	n/a	n/a
17	SMARCB1	chr8:126441266-126444621	Hela-S3	cervix:	n/a	chr8:126442524-126442533
18	MYC	chr8:126443439-126444591	MCF10A-Er-Src	breast:	n/a	chr8:126443763-126443772
19	CTCF	chr8:126444360-126444510	Caco-2	colon:	n/a	chr8:126444442-126444460 chr8:126444444-126444457 chr8:126444437-126444458
20	POLR2A	chr8:126441146-126444545	K562	blood:	n/a	n/a
21	CTCF	chr8:126444360-126444510	HA-sp	spinal cord:	n/a	chr8:126444442-126444460 chr8:126444444-126444457 chr8:126444437-126444458
22	GATA3	chr8:126444242-126444592	T-47D	breast:	n/a	n/a
23	POLR2A	chr8:126441280-126446423	Hela-S3	cervix:	n/a	n/a
24	TCF7L2	chr8:126443902-126444516	HCT-116	colon:	n/a	chr8:126444175-126444182 chr8:126444172-126444186 chr8:126444171-126444187
25	CTCF	chr8:126444400-126444550	HPF	lung:	n/a	chr8:126444442-126444460 chr8:126444444-126444457 chr8:126444437-126444458
26	CTCF	chr8:126444380-126444530	AoAF	blood vessel:	n/a	chr8:126444442-126444460 chr8:126444444-126444457 chr8:126444437-126444458
27	CTCF	chr8:126443978-126444568	A549	lung:	n/a	chr8:126444442-126444460 chr8:126444444-126444457 chr8:126444437-126444458
28	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
29	CTCF	chr8:126444380-126444530	HUVEC	blood vessel:	n/a	chr8:126444442-126444460 chr8:126444444-126444457 chr8:126444437-126444458
30	POLR2A	chr8:126441272-126444905	GM19099	blood:	n/a	n/a
31	CTCF	chr8:126444320-126444470	A549	lung:	n/a	chr8:126444442-126444460 chr8:126444444-126444457 chr8:126444437-126444458
32	BHLHE40	chr8:126444273-126444533	HepG2	liver:	n/a	n/a
33	RAD21	chr8:126444216-126444631	GM12878	blood:	n/a	chr8:126444440-126444459
34	GATA2	chr8:126443454-126444499	K562	blood:	n/a	chr8:126443626-126443633 chr8:126443626-126443633 chr8:126443626-126443633 chr8:126443623-126443635
35	CTCF	chr8:126444400-126444550	NHDF-neo	bronchial:	n/a	chr8:126444442-126444460 chr8:126444444-126444457 chr8:126444437-126444458
36	ELF1	chr8:126441167-126445416	MCF-7	breast:	n/a	chr8:126442808-126442817 chr8:126442814-126442823 chr8:126443062-126443074 chr8:126442816-126442828 chr8:126442810-126442822
37	CTCF	chr8:126444332-126444573	GM13977	blood:	n/a	chr8:126444442-126444460 chr8:126444444-126444457 chr8:126444437-126444458
38	ATF3	chr8:126443685-126444542	A549	lung:	n/a	n/a
39	POLR2A	chr8:126443722-126444546	K562	blood:	n/a	n/a
40	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
41	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
42	RCOR1	chr8:126443622-126444556	GM12878	blood:	n/a	n/a
43	CTCF	chr8:126444320-126444470	HVMF	connective:	n/a	chr8:126444442-126444460 chr8:126444444-126444457 chr8:126444437-126444458
44	SIN3AK20	chr8:126443371-126444563	A549	lung:	n/a	n/a
45	CTCF	chr8:126444400-126444550	NHEK	skin:	n/a	chr8:126444442-126444460 chr8:126444444-126444457 chr8:126444437-126444458
46	CTCF	chr8:126444307-126444556	HepG2	liver:	n/a	chr8:126444442-126444460 chr8:126444444-126444457 chr8:126444437-126444458
47	BCLAF1	chr8:126444034-126444542	GM12878	blood:	n/a	chr8:126444212-126444220
48	CTCF	chr8:126444185-126444573	NHEK	skin:	n/a	chr8:126444442-126444460 chr8:126444444-126444457 chr8:126444437-126444458
49	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
50	RAD21	chr8:126441332-126445623	IMR90	lung:	n/a	chr8:126444440-126444459 chr8:126442868-126442878 chr8:126441997-126442010

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:126444439-126444489	GM12892	blood:	n/a
2	chr8:126444439-126444489	GM06990	blood:	n/a
3	chr8:126444439-126444489	ProgFib	skin:	n/a
4	chr8:126444439-126444489	MCF10A-Er-Src	breast:	n/a
5	chr8:126444439-126444489	HIPEpiC	eye:	n/a
6	chr8:126444439-126444489	HRPEpiC	eye:	n/a
7	chr8:126444439-126444489	HEEpiC	esophagus:	n/a
8	chr8:126444439-126444489	AoSMC	blood vessel:	n/a
9	chr8:126444439-126444489	PrEC	prostate:	n/a
10	chr8:126444439-126444489	GM12891	blood:	n/a
11	chr8:126444439-126444489	SK-N-SH	brain:	n/a
12	chr8:126444439-126444489	PANC-1	pancreas:	n/a
13	chr8:126444439-126444489	K562	blood:	n/a
14	chr8:126444439-126444489	HEK293	kidney:	embryo
15	chr8:126444439-126444489	AG09309	skin:	n/a
16	chr8:126444439-126444489	IMR90	lung:	fetal
17	chr8:126444439-126444489	HRE	kidney:	n/a
18	chr8:126444439-126444489	HMEC	breast:	n/a
19	chr8:126444439-126444489	HAEpiC	amniotic membrane:	n/a
20	chr8:126444439-126444489	Hela-S3	cervix:	n/a
21	chr8:126444439-126444489	T-47D	breast:	n/a
22	chr8:126444439-126444489	MCF-7	breast:	n/a
23	chr8:126444439-126444489	U87	brain:	n/a
24	chr8:126444439-126444489	SKMC	muscle:	n/a
25	chr8:126444439-126444489	HL-60	blood:	n/a
26	chr8:126444439-126444489	ovcar-3	ovarian:	n/a
27	chr8:126444439-126444489	HNPCEpiC	eye:	n/a
28	chr8:126444439-126444489	NB4	blood:	n/a
29	chr8:126444439-126444489	AG04450	lung:	fetal
30	chr8:126444439-126444489	HepG2	liver:	n/a
31	chr8:126444439-126444489	ECC-1	luminal epithelium:	n/a
32	chr8:126444439-126444489	AG04449	skin:	fetal
33	chr8:126444439-126444489	H1-hESC	embryonic stem cell:	embryo
34	chr8:126444439-126444489	BE2_C	brain:	n/a
35	chr8:126444439-126444489	HCT-116	colon:	n/a
36	chr8:126444439-126444489	Caco-2	colon:	n/a
37	chr8:126444439-126444489	HCM	heart:	n/a
38	chr8:126444439-126444489	HPAEpiC	pulmonary alveolar:	n/a
39	chr8:126444439-126444489	GM19239	blood:	n/a
40	chr8:126444439-126444489	SK-N-SH_RA	brain:	n/a
41	chr8:126444439-126444489	SK-N-MC	brain:	n/a
42	chr8:126444439-126444489	HRCEpiC	kidney:	n/a
43	chr8:126444439-126444489	CMK	blood:	n/a
44	chr8:126444439-126444489	BJ	skin:	n/a
45	chr8:126444439-126444489	NH-A	brain:	n/a
46	chr8:126444439-126444489	RPTEC	kidney:	n/a
47	chr8:126444439-126444489	NT2-D1	testis:	n/a
48	chr8:126444439-126444489	PFSK-1	brain:	n/a
49	chr8:126444439-126444489	HCF	heart:	n/a
50	chr8:126444439-126444489	AG09319	gingival:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47399997..47402556-chr8:126443816..126446707,2	MCF-7	breast:
2	chr8:126126335..126143313-chr8:126439680..126445836,35	MCF-7	breast:
3	chr8:126100915..126106135-chr8:126441974..126444669,8	MCF-7	breast:
4	chr8:126101740..126106410-chr8:126441508..126444796,5	MCF-7	breast:

Variant related genes	Relation type
TRIB1	TF binding region
TRIB1	CpG island
ENSG00000156831	Chromatin interaction
ENSG00000164961	Chromatin interaction
ENSG00000066336	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11787371	0.84[AMR][1000 genomes]
rs2385110	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3201475	0.92[JPT][hapmap];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4871592	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58903771	0.95[AMR][1000 genomes];0.85[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4421363	TRIB1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126441200-126444600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:126441200-126444600	Active TSS	Brain Angular Gyrus	brain
3	chr8:126441200-126444600	Active TSS	Fetal Lung	lung
4	chr8:126441200-126444800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:126441200-126444800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:126441200-126444800	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr8:126441200-126444800	Active TSS	Placenta Amnion	Placenta Amnion
8	chr8:126441200-126444800	Active TSS	Right Ventricle	heart
9	chr8:126441200-126444800	Active TSS	HSMM	muscle
10	chr8:126441200-126444800	Active TSS	HSMMtube	muscle
11	chr8:126441200-126444800	Active TSS	NHDF-Ad	bronchial
12	chr8:126441200-126445000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:126441200-126445000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr8:126441200-126445000	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr8:126441200-126445000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr8:126441200-126445200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:126441200-126445600	Active TSS	Gastric	stomach
18	chr8:126441200-126445600	Active TSS	Small Intestine	intestine
19	chr8:126441400-126444600	Active TSS	Colon Smooth Muscle	Colon
20	chr8:126441400-126444600	Active TSS	Fetal Stomach	stomach
21	chr8:126441400-126444800	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr8:126441400-126444800	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr8:126441400-126444800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:126441400-126444800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:126441400-126444800	Active TSS	Brain Anterior Caudate	brain
26	chr8:126441400-126444800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:126441400-126444800	Active TSS	Fetal Kidney	kidney
28	chr8:126441400-126444800	Active TSS	Stomach Mucosa	stomach
29	chr8:126441400-126445000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:126441400-126445000	Active TSS	H9 Cell Line	embryonic stem cell
31	chr8:126441400-126445000	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr8:126441400-126445000	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr8:126441400-126445000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:126441400-126445000	Active TSS	Aorta	Aorta
35	chr8:126441400-126445600	Active TSS	Lung	lung
36	chr8:126441600-126444600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:126441600-126444600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:126441600-126444600	Active TSS	Brain Cingulate Gyrus	brain
39	chr8:126441600-126444600	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr8:126441600-126444600	Active TSS	Hela-S3	cervix
41	chr8:126441600-126444600	Active TSS	NHEK	skin
42	chr8:126441600-126444800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:126441600-126444800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:126441600-126444800	Active TSS	Primary monocytes fromperipheralblood	blood
45	chr8:126441600-126444800	Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr8:126441600-126444800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:126441600-126444800	Active TSS	Muscle Satellite Cultured Cells	--
48	chr8:126441600-126444800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr8:126441600-126444800	Active TSS	Adipose Nuclei	Adipose
50	chr8:126441600-126444800	Active TSS	Esophagus	oesophagus

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