Variant report

Variant	rs6478124
Chromosome Location	chr9:100129498-100129499
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr9:100128899-100129787	GM12878	blood:	n/a	n/a
2	MAZ	chr9:100129273-100129528	GM12878	blood:	n/a	n/a
3	EP300	chr9:100129167-100129525	GM12878	blood:	n/a	n/a
4	EP300	chr9:100129190-100129504	GM12878	blood:	n/a	n/a
5	CUX1	chr9:100129242-100129694	GM12878	blood:	n/a	n/a
6	SPI1	chr9:100129262-100129578	GM12891	blood:	n/a	n/a
7	TBL1XR1	chr9:100129169-100129553	GM12878	blood:	n/a	n/a
8	EBF1	chr9:100129241-100129612	GM12878	blood:	n/a	n/a
9	SPI1	chr9:100129234-100129608	GM12878	blood:	n/a	n/a
10	RUNX3	chr9:100129055-100129782	GM12878	blood:	n/a	n/a
11	SPI1	chr9:100129185-100129600	HL-60	blood:	n/a	n/a
12	SPI1	chr9:100129185-100129714	GM12878	blood:	n/a	n/a
13	ATF2	chr9:100129047-100129620	GM12878	blood:	n/a	n/a
14	SPI1	chr9:100129313-100129514	GM12878	blood:	n/a	n/a
15	ATF2	chr9:100129130-100129533	GM12878	blood:	n/a	n/a
16	NFIC	chr9:100129098-100129647	GM12878	blood:	n/a	n/a
17	MEF2A	chr9:100129113-100129509	GM12878	blood:	n/a	n/a
18	SPI1	chr9:100129304-100129555	HL-60	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:100126892..100129618-chr9:100133900..100135494,2	MCF-7	breast:

No data

Variant related genes	Relation type
MIR1302-8	TF binding region
CCDC180	TF binding region
ENSG00000197816	Chromatin interaction

rs_ID	r²[population]
rs41281916	1.00[AMR][1000 genomes]
rs41281922	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41281928	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41281934	1.00[AMR][1000 genomes]
rs7029224	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7848156	1.00[AMR][1000 genomes]
rs7855979	1.00[AMR][1000 genomes]

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100070000-100131400	Weak transcription	Fetal Kidney	kidney
2	chr9:100077000-100140800	Weak transcription	Fetal Brain Male	brain
3	chr9:100086600-100132000	Weak transcription	Thymus	Thymus
4	chr9:100088600-100132800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr9:100090600-100133800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr9:100091600-100149200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr9:100099000-100132200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr9:100104400-100142000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr9:100106800-100143200	Weak transcription	Liver	Liver
10	chr9:100107000-100131400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr9:100107200-100130200	Weak transcription	Fetal Lung	lung
12	chr9:100107200-100138400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr9:100108000-100148200	Weak transcription	Esophagus	oesophagus
14	chr9:100110200-100132200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr9:100115400-100144600	Weak transcription	Hela-S3	cervix
16	chr9:100115600-100139200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr9:100116200-100130800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:100116400-100130800	Strong transcription	Fetal Stomach	stomach
19	chr9:100117400-100132400	Weak transcription	Fetal Intestine Large	intestine
20	chr9:100117400-100145000	Weak transcription	Colon Smooth Muscle	Colon
21	chr9:100117600-100130000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr9:100117600-100146400	Weak transcription	Small Intestine	intestine
23	chr9:100118200-100132400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr9:100118200-100141600	Weak transcription	Primary T cells from cord blood	blood
25	chr9:100119000-100130800	Strong transcription	Fetal Muscle Trunk	muscle
26	chr9:100120000-100130400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr9:100120000-100137800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr9:100121800-100137800	Weak transcription	Gastric	stomach
29	chr9:100124200-100130400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr9:100125000-100129600	Enhancers	HepG2	liver
31	chr9:100125400-100132200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:100125800-100130000	Weak transcription	Dnd41	blood
33	chr9:100126400-100131400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr9:100126400-100137800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr9:100126600-100141600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr9:100126600-100148400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr9:100127000-100148600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr9:100127600-100130600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr9:100127800-100130200	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr9:100127800-100130400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr9:100127800-100131000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr9:100128000-100131200	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr9:100128600-100130600	Weak transcription	Brain Germinal Matrix	brain
44	chr9:100128800-100132600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr9:100129000-100130200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr9:100129000-100130200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr9:100129000-100130600	Weak transcription	Left Ventricle	heart
48	chr9:100129000-100131000	Weak transcription	Adipose Nuclei	Adipose
49	chr9:100129000-100131200	Weak transcription	Fetal Brain Female	brain
50	chr9:100129000-100131400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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