Variant report

Variant	rs13254294
Chromosome Location	chr8:126441401-126441402
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	ELK1	chr8:126441349-126441533	Hela-S3	cervix:	n/a	n/a
3	EP300	chr8:126441379-126441717	SK-N-SH_RA	brain:	n/a	n/a
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	ZC3H11A	chr8:126441293-126441555	K562	blood:	n/a	n/a
6	RAD21	chr8:126441367-126442955	MCF-7	breast:	n/a	chr8:126442868-126442878 chr8:126441997-126442010
7	EP300	chr8:126441299-126443020	A549	lung:	n/a	chr8:126441791-126441805 chr8:126441924-126441933 chr8:126441792-126441806 chr8:126441955-126441971 chr8:126442812-126442821
8	POLR2A	chr8:126441378-126442118	U87	brain:	n/a	n/a
9	USF1	chr8:126441169-126441667	A549	lung:	n/a	chr8:126441644-126441660 chr8:126441513-126441524
10	SMARCB1	chr8:126441266-126444621	Hela-S3	cervix:	n/a	chr8:126442524-126442533
11	RAD21	chr8:126441295-126442827	SK-N-SH_RA	brain:	n/a	chr8:126441997-126442010
12	POLR2A	chr8:126441146-126444545	K562	blood:	n/a	n/a
13	TCF12	chr8:126441096-126441708	A549	lung:	n/a	n/a
14	POLR2A	chr8:126441280-126446423	Hela-S3	cervix:	n/a	n/a
15	JUND	chr8:126441328-126442999	A549	lung:	n/a	chr8:126442522-126442533 chr8:126442097-126442106 chr8:126441646-126441655 chr8:126442520-126442531 chr8:126442524-126442533 chr8:126441534-126441543
16	POLR2A	chr8:126441260-126442262	SK-N-SH	brain:	n/a	n/a
17	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
18	POLR2A	chr8:126441272-126444905	GM19099	blood:	n/a	n/a
19	ZBTB7A	chr8:126441246-126442006	ECC-1	luminal epithelium:	n/a	chr8:126441601-126441608
20	TAF1	chr8:126441337-126443272	A549	lung:	n/a	n/a
21	POLR2A	chr8:126441357-126443572	HUVEC	blood vessel:	n/a	n/a
22	EBF1	chr8:126441242-126441565	GM12878	blood:	n/a	n/a
23	HA-E2F1	chr8:126441384-126443141	Hela-S3	cervix:	n/a	chr8:126442685-126442694 chr8:126441506-126441516 chr8:126442809-126442819 chr8:126442812-126442822 chr8:126442429-126442438 chr8:126442231-126442240 chr8:126442133-126442145
24	SIN3AK20	chr8:126441272-126443062	SK-N-SH	brain:	n/a	n/a
25	MAX	chr8:126441187-126442785	H1-hESC	embryonic stem cell:	n/a	chr8:126441515-126441524 chr8:126441515-126441524 chr8:126441514-126441525 chr8:126441514-126441524 chr8:126441515-126441525 chr8:126441846-126441853 chr8:126441517-126441526 chr8:126441848-126441857 chr8:126441515-126441524
26	CEBPB	chr8:126441010-126443155	HCT-116	colon:	n/a	chr8:126442459-126442470 chr8:126442461-126442472 chr8:126442459-126442472 chr8:126442461-126442470
27	E2F6	chr8:126441277-126441709	K562	blood:	n/a	chr8:126441489-126441500 chr8:126441506-126441516
28	BHLHE40	chr8:126441386-126443149	K562	blood:	n/a	chr8:126442012-126442028 chr8:126441910-126441926 chr8:126442807-126442823 chr8:126441644-126441660 chr8:126441652-126441668 chr8:126442813-126442829
29	ELF1	chr8:126441167-126445416	MCF-7	breast:	n/a	chr8:126442808-126442817 chr8:126442814-126442823 chr8:126443062-126443074 chr8:126442816-126442828 chr8:126442810-126442822
30	ELF1	chr8:126441251-126443084	GM12878	blood:	n/a	chr8:126442808-126442817 chr8:126442814-126442823 chr8:126443062-126443074 chr8:126442816-126442828 chr8:126442810-126442822
31	MAX	chr8:126441238-126441670	H1-hESC	embryonic stem cell:	n/a	chr8:126441515-126441524 chr8:126441515-126441524 chr8:126441514-126441525 chr8:126441514-126441524 chr8:126441515-126441525 chr8:126441517-126441526 chr8:126441515-126441524
32	POLR2A	chr8:126441290-126441693	A549	lung:	n/a	n/a
33	ZNF384	chr8:126441320-126442839	K562	blood:	n/a	n/a
34	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
35	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
36	RCOR1	chr8:126441346-126442811	K562	blood:	n/a	n/a
37	POLR2A	chr8:126441156-126442987	H1-neurons	neurons:	n/a	n/a
38	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
39	TAF1	chr8:126441350-126441631	H1-hESC	embryonic stem cell:	n/a	n/a
40	RAD21	chr8:126441332-126445623	IMR90	lung:	n/a	chr8:126444440-126444459 chr8:126442868-126442878 chr8:126441997-126442010
41	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
42	USF1	chr8:126441307-126441713	SK-N-SH_RA	brain:	n/a	chr8:126441644-126441660 chr8:126441513-126441524 chr8:126441652-126441668
43	POLR2A	chr8:126441319-126446312	Hela-S3	cervix:	n/a	n/a
44	RCOR1	chr8:126440829-126443161	IMR90	lung:	n/a	n/a
45	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
46	HCFC1	chr8:126441337-126442942	K562	blood:	n/a	n/a
47	POLR2A	chr8:126441313-126443610	HepG2	liver:	n/a	n/a
48	USF1	chr8:126441306-126441759	SK-N-SH	brain:	n/a	chr8:126441644-126441660 chr8:126441513-126441524 chr8:126441652-126441668
49	TEAD4	chr8:126441300-126441679	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr8:126441291-126441621	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:126441383-126441433	AG09309	skin:	n/a
2	chr8:126441383-126441433	HCPEpiC	choroid plexus:	n/a
3	chr8:126441393-126441443	A549	lung:	n/a
4	chr8:126441383-126441433	HNPCEpiC	eye:	n/a
5	chr8:126441383-126441433	GM12878	blood:	n/a
6	chr8:126441383-126441433	HMEC	breast:	n/a
7	chr8:126441393-126441443	AG04450	lung:	fetal
8	chr8:126441383-126441433	Hepatocyte	liver:	n/a
9	chr8:126441383-126441433	ProgFib	skin:	n/a
10	chr8:126441383-126441433	MCF-7	breast:	n/a
11	chr8:126441393-126441443	ProgFib	skin:	n/a
12	chr8:126441393-126441443	U87	brain:	n/a
13	chr8:126441383-126441433	GM12891	blood:	n/a
14	chr8:126441383-126441433	GM19239	blood:	n/a
15	chr8:126441393-126441443	NHDF-neo	bronchial:	n/a
16	chr8:126441383-126441433	Jurkat	blood:	n/a
17	chr8:126441393-126441443	HL-60	blood:	n/a
18	chr8:126441393-126441443	GM06990	blood:	n/a
19	chr8:126441383-126441433	IMR90	lung:	fetal
20	chr8:126441393-126441443	Jurkat	blood:	n/a
21	chr8:126441393-126441443	GM19239	blood:	n/a
22	chr8:126441393-126441443	SK-N-SH_RA	brain:	n/a
23	chr8:126441393-126441443	NB4	blood:	n/a
24	chr8:126441393-126441443	CMK	blood:	n/a
25	chr8:126441383-126441433	HIPEpiC	eye:	n/a
26	chr8:126441383-126441433	LNCaP	prostate:	n/a
27	chr8:126441393-126441443	MCF-7	breast:	n/a
28	chr8:126441393-126441443	H1-hESC	embryonic stem cell:	embryo
29	chr8:126441383-126441433	AG10803	skin:	n/a
30	chr8:126441383-126441433	Caco-2	colon:	n/a
31	chr8:126441383-126441433	NB4	blood:	n/a
32	chr8:126441383-126441433	RPTEC	kidney:	n/a
33	chr8:126441393-126441443	SK-N-MC	brain:	n/a
34	chr8:126441383-126441433	HRCEpiC	kidney:	n/a
35	chr8:126441393-126441443	HRE	kidney:	n/a
36	chr8:126441383-126441433	SKMC	muscle:	n/a
37	chr8:126441393-126441443	HepG2	liver:	n/a
38	chr8:126441393-126441443	SKMC	muscle:	n/a
39	chr8:126441393-126441443	AoSMC	blood vessel:	n/a
40	chr8:126441383-126441433	NHDF-neo	bronchial:	n/a
41	chr8:126441383-126441433	SK-N-SH_RA	brain:	n/a
42	chr8:126441393-126441443	SAEC	small airway:	n/a
43	chr8:126441393-126441443	LNCaP	prostate:	n/a
44	chr8:126441393-126441443	AG09309	skin:	n/a
45	chr8:126441393-126441443	HCF	heart:	n/a
46	chr8:126441393-126441443	HCT-116	colon:	n/a
47	chr8:126441393-126441443	IMR90	lung:	fetal
48	chr8:126441383-126441433	HAEpiC	amniotic membrane:	n/a
49	chr8:126441393-126441443	GM12891	blood:	n/a
50	chr8:126441393-126441443	Caco-2	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:126409326..126412304-chr8:126440467..126442135,2	MCF-7	breast:
2	chr8:126371278..126373915-chr8:126440851..126442526,2	MCF-7	breast:
3	chr8:126289014..126291245-chr8:126440114..126442015,2	MCF-7	breast:
4	chr16:2014423..2015234-chr8:126441171..126441947,2	Hela-S3	cervix:
5	chr8:126361514..126365167-chr8:126440219..126443605,3	K562	blood:
6	chr8:126392836..126396701-chr8:126439754..126442098,3	MCF-7	breast:
7	chr8:126440357..126442550-chr8:126518210..126520213,2	K562	blood:
8	chr5:138089739..138090262-chr8:126440998..126441567,2	Hela-S3	cervix:
9	chr8:126136568..126138069-chr8:126439799..126441480,2	MCF-7	breast:
10	chr8:126367782..126370387-chr8:126440468..126442210,2	K562	blood:
11	chr8:126112294..126114961-chr8:126440449..126443868,3	MCF-7	breast:
12	chr8:126439520..126441495-chr8:126640041..126642897,2	MCF-7	breast:
13	chr8:126126335..126143313-chr8:126439680..126445836,35	MCF-7	breast:
14	chr8:126412879..126414831-chr8:126440456..126442134,2	MCF-7	breast:
15	chr8:126123096..126125735-chr8:126439490..126442539,3	MCF-7	breast:
16	chr8:126439858..126442559-chr8:126576058..126577661,2	MCF-7	breast:
17	chr8:126194440..126196761-chr8:126440520..126442418,2	MCF-7	breast:

Variant related genes	Relation type
TRIB1	TF binding region
TRIB1	CpG island
ENSG00000044115	Chromatin interaction
ENSG00000255198	Chromatin interaction
ENSG00000156831	Chromatin interaction
ENSG00000140988	Chromatin interaction
ENSG00000254431	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126441000-126441600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr8:126441000-126441600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:126441000-126441600	Flanking Active TSS	A549	lung
4	chr8:126441000-126441600	Flanking Active TSS	HepG2	liver
5	chr8:126441000-126441600	Flanking Active TSS	K562	blood
6	chr8:126441000-126441600	Flanking Active TSS	NH-A	brain
7	chr8:126441200-126441600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr8:126441200-126441600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
9	chr8:126441200-126441600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:126441200-126441600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:126441200-126441600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:126441200-126441600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:126441200-126441600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr8:126441200-126441600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:126441200-126441600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr8:126441200-126441600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr8:126441200-126441600	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr8:126441200-126441600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr8:126441200-126441600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:126441200-126441600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr8:126441200-126441600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr8:126441200-126441600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:126441200-126441600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:126441200-126441600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr8:126441200-126441600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:126441200-126441600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr8:126441200-126441600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr8:126441200-126441600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:126441200-126441600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:126441200-126441600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:126441200-126441600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:126441200-126441600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:126441200-126441600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:126441200-126441600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:126441200-126441600	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr8:126441200-126441600	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr8:126441200-126441600	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr8:126441200-126441600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr8:126441200-126441600	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr8:126441200-126441600	Flanking Active TSS	Colonic Mucosa	Colon
41	chr8:126441200-126441600	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr8:126441200-126441600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr8:126441200-126441600	Flanking Active TSS	Fetal Brain Male	brain
44	chr8:126441200-126441600	Flanking Active TSS	Fetal Intestine Large	intestine
45	chr8:126441200-126441600	Flanking Active TSS	Fetal Intestine Small	intestine
46	chr8:126441200-126441600	Flanking Active TSS	Fetal Muscle Trunk	muscle
47	chr8:126441200-126441600	Flanking Active TSS	Fetal Muscle Leg	muscle
48	chr8:126441200-126441600	Flanking Active TSS	Placenta	Placenta
49	chr8:126441200-126441600	Flanking Active TSS	Left Ventricle	heart
50	chr8:126441200-126441600	Flanking Active TSS	Pancreas	Pancrea

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