Variant report

Variant	rs72725210
Chromosome Location	chr1:172412797-172412798
allele	A/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	MAZ	chr1:172412764-172413478	GM12878	blood:	n/a	n/a
2	TBP	chr1:172412775-172413594	K562	blood:	n/a	n/a
3	SMC3	chr1:172412739-172413529	Hela-S3	cervix:	n/a	chr1:172413288-172413302 chr1:172413291-172413301
4	HCFC1	chr1:172412756-172413505	K562	blood:	n/a	n/a
5	POLR2A	chr1:172412769-172413529	SK-N-MC	brain:	n/a	n/a
6	MAZ	chr1:172412671-172413555	K562	blood:	n/a	n/a
7	GABPA	chr1:172412765-172413643	SK-N-SH	brain:	n/a	n/a
8	MTA3	chr1:172412633-172413492	GM12878	blood:	n/a	n/a
9	RCOR1	chr1:172412628-172413690	K562	blood:	n/a	n/a
10	YY1	chr1:172412782-172413570	A549	lung:	n/a	chr1:172413473-172413483
11	TCF12	chr1:172412713-172413615	A549	lung:	n/a	n/a
12	ZBTB7A	chr1:172412745-172413338	ECC-1	luminal epithelium:	n/a	n/a
13	MAX	chr1:172412664-172413609	A549	lung:	n/a	n/a
14	ELF1	chr1:172412696-172413725	HCT-116	colon:	n/a	n/a
15	POLR2A	chr1:172412787-172413464	Hela-S3	cervix:	n/a	n/a
16	ELF1	chr1:172412708-172413541	GM12878	blood:	n/a	n/a
17	UBTF	chr1:172412763-172413418	K562	blood:	n/a	n/a
18	SP1	chr1:172412689-172413575	A549	lung:	n/a	chr1:172413445-172413459
19	POLR2A	chr1:172412686-172413671	GM19099	blood:	n/a	n/a
20	ELF1	chr1:172412762-172413548	K562	blood:	n/a	n/a
21	ELF1	chr1:172412764-172413606	SK-N-SH	brain:	n/a	n/a
22	ZBTB7A	chr1:172412763-172413396	K562	blood:	n/a	n/a
23	POLR2A	chr1:172412738-172413356	K562	blood:	n/a	n/a
24	POLR2A	chr1:172412046-172413557	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr1:172412684-172413494	GM19193	blood:	n/a	n/a
26	ETS1	chr1:172412787-172413403	K562	blood:	n/a	n/a
27	CTCF	chr1:172412280-172413895	A549	lung:	n/a	chr1:172413281-172413302 chr1:172413288-172413301 chr1:172413286-172413304
28	GABPA	chr1:172412781-172413609	HL-60	blood:	n/a	n/a
29	POLR2A	chr1:172412762-172413523	HepG2	liver:	n/a	n/a
30	POLR2A	chr1:172412207-172413432	Hela-S3	cervix:	n/a	n/a
31	ELF1	chr1:172412772-172413549	A549	lung:	n/a	n/a
32	TEAD4	chr1:172412573-172413495	K562	blood:	n/a	n/a
33	POLR2A	chr1:172412795-172413504	Hela-S3	cervix:	n/a	n/a
34	SMARCB1	chr1:172412693-172413529	Hela-S3	cervix:	n/a	n/a
35	SMARCC1	chr1:172412274-172413626	Hela-S3	cervix:	n/a	n/a
36	SMC3	chr1:172412544-172413882	SK-N-SH	brain:	n/a	chr1:172413288-172413302 chr1:172413291-172413301
37	ELF1	chr1:172412733-172413525	GM12878	blood:	n/a	n/a
38	ELF1	chr1:172412685-172413713	HCT-116	colon:	n/a	n/a
39	GABPA	chr1:172412762-172413569	K562	blood:	n/a	n/a
40	YY1	chr1:172412779-172413467	GM12878	blood:	n/a	n/a
41	ZBTB7A	chr1:172412626-172413523	ECC-1	luminal epithelium:	n/a	n/a
42	TAF1	chr1:172412725-172413510	A549	lung:	n/a	n/a
43	ELF1	chr1:172412788-172413512	SK-N-SH	brain:	n/a	n/a
44	CTCF	chr1:172412682-172413747	SK-N-SH	brain:	n/a	chr1:172413281-172413302 chr1:172413288-172413301 chr1:172413286-172413304
45	PML	chr1:172412789-172413492	GM12878	blood:	n/a	n/a
46	GABPA	chr1:172412564-172413646	A549	lung:	n/a	n/a
47	CTCF	chr1:172412650-172413694	K562	blood:	n/a	chr1:172413281-172413302 chr1:172413288-172413301 chr1:172413286-172413304
48	HDAC2	chr1:172412759-172413517	MCF-7	breast:	n/a	chr1:172412785-172412799
49	POLR2A	chr1:172412786-172413406	A549	lung:	n/a	n/a
50	MAX	chr1:172412744-172413544	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:172410326..172414934-chr1:172499314..172504781,7	K562	blood:
2	chr1:172411739..172413283-chr17:73499365..73502360,2	MCF-7	breast:
3	chr1:172412591..172413210-chr16:18812362..18813314,2	Hela-S3	cervix:
4	chr1:172411064..172415256-chr1:172501216..172504781,6	K562	blood:
5	chr1:172411084..172422561-chr1:172496524..172504623,44	MCF-7	breast:
6	chr1:172412703..172413401-chr15:76135877..76136831,2	Hela-S3	cervix:
7	chr1:172412087..172424934-chr1:172497120..172505334,59	MCF-7	breast:

Variant related genes	Relation type
C1orf105	TF binding region
ENSG00000094975	Chromatin interaction
ENSG00000140367	Chromatin interaction
ENSG00000260342	Chromatin interaction
ENSG00000177303	Chromatin interaction
ENSG00000170540	Chromatin interaction

rs_ID	r²[population]
rs2901654	0.93[EUR][1000 genomes]
rs72723302	0.93[EUR][1000 genomes]
rs72725208	0.93[EUR][1000 genomes]
rs72725268	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72725271	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72725272	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72725279	0.90[AMR][1000 genomes]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172401400-172412800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:172411600-172412800	Weak transcription	Lung	lung
3	chr1:172411800-172412800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:172411800-172412800	Weak transcription	Gastric	stomach
5	chr1:172411800-172412800	Enhancers	Spleen	Spleen
6	chr1:172411800-172413000	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr1:172411800-172413400	Active TSS	NHLF	lung
8	chr1:172411800-172413600	Active TSS	GM12878-XiMat	blood
9	chr1:172412000-172412800	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr1:172412000-172412800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:172412000-172412800	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr1:172412000-172413400	Active TSS	H1 Cell Line	embryonic stem cell
13	chr1:172412000-172413400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:172412000-172413400	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr1:172412000-172413400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr1:172412000-172413400	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr1:172412000-172413400	Active TSS	Stomach Smooth Muscle	stomach
18	chr1:172412000-172413600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:172412000-172413600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:172412000-172413600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr1:172412200-172412800	Active TSS	Primary T cells fromperipheralblood	blood
22	chr1:172412200-172412800	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr1:172412200-172412800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr1:172412200-172412800	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr1:172412200-172413400	Active TSS	Left Ventricle	heart
26	chr1:172412200-172413400	Active TSS	Psoas Muscle	Psoas
27	chr1:172412200-172413400	Active TSS	Right Atrium	heart
28	chr1:172412200-172413400	Active TSS	Right Ventricle	heart
29	chr1:172412400-172412800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:172412400-172412800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:172412400-172412800	Active TSS	Fetal Muscle Trunk	muscle
32	chr1:172412400-172413200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr1:172412400-172413200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:172412400-172413200	Active TSS	Brain Anterior Caudate	brain
35	chr1:172412400-172413200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr1:172412400-172413200	Active TSS	Fetal Muscle Leg	muscle
37	chr1:172412400-172413200	Active TSS	Placenta	Placenta
38	chr1:172412400-172413200	Active TSS	Fetal Thymus	thymus
39	chr1:172412400-172413200	Active TSS	Placenta Amnion	Placenta Amnion
40	chr1:172412400-172413200	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr1:172412400-172413400	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr1:172412400-172413400	Active TSS	H9 Cell Line	embryonic stem cell
43	chr1:172412400-172413400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:172412400-172413400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:172412400-172413400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:172412400-172413400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:172412400-172413400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:172412400-172413400	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr1:172412400-172413400	Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr1:172412400-172413400	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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