Variant report

Variant	rs9487047
Chromosome Location	chr6:109615506-109615507
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	FOS	chr6:109615269-109615538	MCF10A-Er-Src	breast:	n/a	n/a
2	SP1	chr6:109615010-109615734	HCT-116	colon:	n/a	chr6:109615307-109615321
3	CHD2	chr6:109615265-109615578	Hela-S3	cervix:	n/a	n/a
4	RFX5	chr6:109615308-109615641	Hela-S3	cervix:	n/a	n/a
5	TFAP2A	chr6:109615177-109615695	Hela-S3	cervix:	n/a	chr6:109615408-109615423 chr6:109615409-109615420 chr6:109615409-109615420 chr6:109615409-109615420 chr6:109615409-109615420
6	MAFK	chr6:109615351-109615513	Hela-S3	cervix:	n/a	n/a
7	SMC3	chr6:109615264-109615613	Hela-S3	cervix:	n/a	n/a
8	SP1	chr6:109614956-109615753	HCT-116	colon:	n/a	chr6:109615307-109615321
9	FOS	chr6:109615308-109615560	MCF10A-Er-Src	breast:	n/a	n/a
10	MAX	chr6:109615212-109615632	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr6:109615126-109615622	HCT-116	colon:	n/a	n/a
12	GTF2F1	chr6:109615293-109615550	Hela-S3	cervix:	n/a	n/a
13	FOS	chr6:109615281-109615574	MCF10A-Er-Src	breast:	n/a	n/a
14	MXI1	chr6:109615323-109615611	Hela-S3	cervix:	n/a	n/a
15	RCOR1	chr6:109615287-109615573	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr6:109615319-109615608	Hela-S3	cervix:	n/a	n/a
17	TFAP2C	chr6:109615107-109615732	Hela-S3	cervix:	n/a	chr6:109615408-109615423
18	RAD21	chr6:109615290-109615593	Hela-S3	cervix:	n/a	chr6:109615407-109615420
19	YY1	chr6:109615263-109615533	HCT-116	colon:	n/a	n/a
20	FOS	chr6:109615374-109615572	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr6:109615181-109615557	HCT-116	colon:	n/a	n/a
22	CEBPB	chr6:109615209-109615578	Hela-S3	cervix:	n/a	n/a
23	TCF7L2	chr6:109615281-109615576	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:109414698..109417421-chr6:109614595..109617032,3	MCF-7	breast:
2	chr6:109613644..109615634-chr6:109701677..109704002,2	K562	blood:
3	chr6:109613797..109616312-chr6:109702118..109704634,2	MCF-7	breast:

Variant related genes	Relation type
PTCHD3P3	TF binding region
CCDC162P	TF binding region
ENSG00000238474	TF binding region
ENSG00000080546	Chromatin interaction
ENSG00000135535	Chromatin interaction
ENSG00000183137	Chromatin interaction
ENSG00000260273	Chromatin interaction

rs_ID	r²[population]
rs9320283	1.00[AMR][1000 genomes]
rs9487016	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9487024	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9487037	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109611200-109618200	Weak transcription	Gastric	stomach
2	chr6:109612600-109615600	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr6:109613000-109615600	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr6:109613000-109619000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:109613200-109615600	Enhancers	Left Ventricle	heart
6	chr6:109613200-109619000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:109613400-109620200	Weak transcription	Right Atrium	heart
8	chr6:109613600-109615800	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr6:109613600-109617800	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:109613600-109620600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr6:109613800-109617400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:109613800-109618200	Weak transcription	Brain Anterior Caudate	brain
13	chr6:109614000-109618200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:109614000-109618400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:109614000-109618600	Weak transcription	Brain Angular Gyrus	brain
16	chr6:109614000-109619000	Weak transcription	Brain Substantia Nigra	brain
17	chr6:109614000-109622000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:109614200-109618400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr6:109614200-109619000	Weak transcription	Brain Hippocampus Middle	brain
20	chr6:109614400-109615600	Enhancers	HMEC	breast
21	chr6:109614400-109621000	Enhancers	Primary hematopoietic stem cells	blood
22	chr6:109614600-109615800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr6:109614600-109616000	Enhancers	Fetal Heart	heart
24	chr6:109614600-109619400	Enhancers	HepG2	liver
25	chr6:109614800-109615600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr6:109614800-109615600	Enhancers	Right Ventricle	heart
27	chr6:109614800-109615600	Flanking Active TSS	Hela-S3	cervix
28	chr6:109614800-109624400	Enhancers	K562	blood
29	chr6:109615000-109615600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:109615000-109615600	Enhancers	NHEK	skin
31	chr6:109615000-109616000	Enhancers	Colon Smooth Muscle	Colon
32	chr6:109615000-109619600	Enhancers	Fetal Intestine Large	intestine
33	chr6:109615200-109615600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:109615200-109615600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:109615200-109615600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:109615200-109615600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr6:109615200-109615600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr6:109615200-109615600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr6:109615200-109615600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr6:109615200-109615600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:109615200-109615600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:109615200-109615600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr6:109615200-109615600	Enhancers	Primary B cells from cord blood	blood
44	chr6:109615200-109615600	Enhancers	Fetal Muscle Trunk	muscle
45	chr6:109615200-109615600	Enhancers	Placenta	Placenta
46	chr6:109615200-109615600	Enhancers	Pancreas	Pancrea
47	chr6:109615200-109615600	Enhancers	NHDF-Ad	bronchial
48	chr6:109615200-109615800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:109615200-109615800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr6:109615200-109615800	Enhancers	Duodenum Mucosa	Duodenum

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