Variant report

Variant	rs72911557
Chromosome Location	chr1:59281664-59281665
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	BCL3	chr1:59280708-59281670	A549	lung:	n/a	chr1:59281089-59281102
2	SMC3	chr1:59280956-59282309	GM12878	blood:	n/a	n/a
3	TCF12	chr1:59280470-59282632	A549	lung:	n/a	chr1:59281207-59281217 chr1:59281032-59281041
4	POLR2A	chr1:59280614-59283094	U87	brain:	n/a	n/a
5	CTCF	chr1:59281532-59282257	GM12878	blood:	n/a	chr1:59281905-59281918 chr1:59282154-59282167
6	POLR2A	chr1:59279717-59282573	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr1:59280152-59281691	H1-hESC	embryonic stem cell:	n/a	n/a
8	FOSL2	chr1:59281615-59282207	A549	lung:	n/a	n/a
9	BRCA1	chr1:59280805-59282259	Hela-S3	cervix:	n/a	n/a
10	STAT3	chr1:59281297-59281709	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr1:59281608-59282408	K562	blood:	n/a	n/a
12	POLR2A	chr1:59280804-59282903	GM12891	blood:	n/a	n/a
13	RAD21	chr1:59281382-59282449	H1-hESC	embryonic stem cell:	n/a	n/a
14	SP1	chr1:59280535-59282521	A549	lung:	n/a	chr1:59281157-59281167 chr1:59281157-59281167 chr1:59281098-59281112 chr1:59281163-59281177
15	ZNF143	chr1:59280590-59282283	Hela-S3	cervix:	n/a	chr1:59281084-59281094 chr1:59281914-59281924
16	CUX1	chr1:59280979-59282261	K562	blood:	n/a	chr1:59281691-59281702
17	CEBPB	chr1:59279686-59282432	Hela-S3	cervix:	n/a	chr1:59279976-59279987 chr1:59279927-59279935
18	ZNF143	chr1:59280848-59282220	K562	blood:	n/a	chr1:59281084-59281094 chr1:59281914-59281924
19	TCF7L2	chr1:59280126-59282415	HCT-116	colon:	n/a	n/a
20	CTCF	chr1:59281660-59281810	HFF	foreskin:	n/a	n/a
21	POLR2A	chr1:59280805-59282889	GM12878	blood:	n/a	n/a
22	RELA	chr1:59280956-59282518	GM15510	blood:	n/a	n/a
23	RELA	chr1:59280913-59282372	GM18951	blood:	n/a	n/a
24	RCOR1	chr1:59280659-59282223	K562	blood:	n/a	n/a
25	CTCF	chr1:59281560-59281710	GM06990	blood:	n/a	n/a
26	MAX	chr1:59280425-59282538	A549	lung:	n/a	chr1:59281189-59281198
27	EP300	chr1:59281453-59282487	K562	blood:	n/a	chr1:59282103-59282112 chr1:59282141-59282150 chr1:59281914-59281923
28	TCF12	chr1:59279676-59282551	ECC-1	luminal epithelium:	n/a	chr1:59281207-59281217 chr1:59281032-59281041
29	POLR2A	chr1:59280768-59283012	U87	brain:	n/a	n/a
30	KAP1	chr1:59280626-59281969	HEK293	kidney:	n/a	n/a
31	EP300	chr1:59279720-59282623	ECC-1	luminal epithelium:	n/a	chr1:59281072-59281088 chr1:59282103-59282112 chr1:59281081-59281097 chr1:59282141-59282150 chr1:59281085-59281101 chr1:59281078-59281094 chr1:59281084-59281100 chr1:59281914-59281923
32	POLR2A	chr1:59280582-59282450	GM18951	blood:	n/a	n/a
33	ELK4	chr1:59280077-59282480	Hela-S3	cervix:	n/a	n/a
34	MYC	chr1:59281584-59282361	K562	blood:	n/a	n/a
35	ZNF143	chr1:59281661-59282107	H1-hESC	embryonic stem cell:	n/a	chr1:59281914-59281924
36	UBTF	chr1:59281658-59282408	K562	blood:	n/a	n/a
37	SMARCB1	chr1:59279838-59282407	Hela-S3	cervix:	n/a	n/a
38	CHD2	chr1:59281315-59282265	H1-hESC	embryonic stem cell:	n/a	n/a
39	GTF2F1	chr1:59280314-59282488	Hela-S3	cervix:	n/a	n/a
40	RCOR1	chr1:59281648-59282121	HepG2	liver:	n/a	n/a
41	MAZ	chr1:59279861-59282340	Hela-S3	cervix:	n/a	chr1:59281189-59281198 chr1:59280253-59280262
42	RCOR1	chr1:59280760-59282407	K562	blood:	n/a	n/a
43	POLR2A	chr1:59280809-59282760	GM18505	blood:	n/a	n/a
44	NR2F2	chr1:59280464-59282561	K562	blood:	n/a	n/a
45	EGR1	chr1:59279749-59282500	HCT-116	colon:	n/a	chr1:59280835-59280857 chr1:59280060-59280074 chr1:59281051-59281065 chr1:59280060-59280073 chr1:59281909-59281922 chr1:59280063-59280072 chr1:59281097-59281110 chr1:59282140-59282149 chr1:59280839-59280852 chr1:59280831-59280844 chr1:59280838-59280853 chr1:59280839-59280853 chr1:59280059-59280074 chr1:59280061-59280072 chr1:59280839-59280852
46	MAX	chr1:59280617-59282327	K562	blood:	n/a	chr1:59281189-59281198
47	STAT5A	chr1:59281074-59282500	GM12878	blood:	n/a	chr1:59281843-59281855
48	CHD2	chr1:59280219-59282537	Hela-S3	cervix:	n/a	chr1:59281098-59281108 chr1:59280484-59280491
49	POLR2A	chr1:59279375-59282505	Hela-S3	cervix:	n/a	n/a
50	SIN3AK20	chr1:59279382-59282566	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:59279353..59283854-chr1:59287313..59291525,6	MCF-7	breast:
2	chr1:59245489..59255081-chr1:59277954..59283925,49	MCF-7	breast:
3	chr1:59280122..59283663-chr1:59349956..59353437,4	K562	blood:
4	chr1:59281044..59283680-chr1:59353136..59355336,2	K562	blood:
5	chr1:59280570..59282540-chr1:59362255..59364543,2	MCF-7	breast:
6	chr1:59243405..59253875-chr1:59275011..59289058,45	MCF-7	breast:
7	chr1:59279369..59282052-chr1:60171210..60173225,3	MCF-7	breast:
8	chr1:59281530..59282419-chr8:27168576..27169085,2	Hela-S3	cervix:
9	chr1:17231508..17232125-chr1:59281162..59281679,2	Hela-S3	cervix:
10	chr1:59279457..59282981-chr1:59283687..59286487,4	K562	blood:
11	chr1:59280503..59282768-chr1:59285490..59288010,2	MCF-7	breast:
12	chr1:59281535..59282176-chr21:34894490..34895194,2	HCT-116	colon:
13	chr1:59279471..59282455-chr1:59331094..59333680,2	MCF-7	breast:
14	chr1:59243458..59255133-chr1:59272031..59283720,29	K562	blood:
15	chr1:59279921..59284497-chr1:59286325..59289409,4	K562	blood:
16	chr1:59280334..59283471-chr1:59294258..59298511,4	K562	blood:
17	chr1:59280123..59281954-chr1:59395680..59397207,2	MCF-7	breast:
18	chr1:59281101..59282188-chr1:59346619..59347812,3	Hela-S3	cervix:
19	chr1:59280920..59283588-chr1:59288340..59291242,3	MCF-7	breast:
20	chr1:59279917..59282789-chr1:59295281..59296950,2	MCF-7	breast:
21	chr1:59091520..59094170-chr1:59279490..59282356,2	MCF-7	breast:
22	chr1:59280214..59283774-chr1:59346159..59349299,3	MCF-7	breast:
23	chr1:59280191..59282299-chr1:59284813..59286664,3	MCF-7	breast:
24	chr1:59279498..59283509-chr1:59392349..59395635,3	MCF-7	breast:
25	chr1:59280957..59283269-chr1:60161971..60164476,2	MCF-7	breast:
26	chr1:59279403..59281685-chr1:59758871..59761962,3	MCF-7	breast:
27	chr1:59279066..59281717-chr1:59892952..59895957,3	MCF-7	breast:
28	chr1:59280903..59282902-chr1:59376197..59378473,2	MCF-7	breast:
29	chr1:59258641..59262017-chr1:59281438..59284393,3	MCF-7	breast:
30	chr1:59279690..59282444-chr1:59408342..59410197,2	K562	blood:
31	chr1:59249984..59250670-chr1:59281053..59281725,3	Hela-S3	cervix:
32	chr1:59279994..59282679-chr1:59483503..59486905,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FGGY-5	chr1:59280940-59281700	NONHSAT003530
2	lnc-FGGY-5	chr1:59280940-59282168	NONHSAT003522

Variant related genes	Relation type
ENSG00000272226	TF binding region
ENSG00000120899	Chromatin interaction
ENSG00000104228	Chromatin interaction
ENSG00000234807	Chromatin interaction
ENSG00000232453	Chromatin interaction
ENSG00000230812	Chromatin interaction
ENSG00000177606	Chromatin interaction

rs_ID	r²[population]
rs57500803	1.00[AMR][1000 genomes]
rs59164731	1.00[AMR][1000 genomes]
rs59193866	1.00[AMR][1000 genomes]
rs59558908	1.00[AMR][1000 genomes]
rs60869213	1.00[AMR][1000 genomes]
rs61294750	1.00[AMR][1000 genomes]
rs72909646	1.00[AMR][1000 genomes]
rs72911506	1.00[AMR][1000 genomes]
rs72911514	1.00[AMR][1000 genomes]
rs72911516	1.00[AMR][1000 genomes]
rs72911524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911526	1.00[AMR][1000 genomes]
rs72911528	1.00[AMR][1000 genomes]
rs72911533	1.00[AMR][1000 genomes]
rs72911535	1.00[AMR][1000 genomes]
rs72911538	1.00[AMR][1000 genomes]
rs72911540	1.00[AMR][1000 genomes]
rs72911542	1.00[AMR][1000 genomes]
rs72911546	1.00[AMR][1000 genomes]
rs72911550	1.00[AMR][1000 genomes]
rs72911559	1.00[AMR][1000 genomes]
rs72913576	1.00[AMR][1000 genomes]
rs72913582	1.00[AMR][1000 genomes]
rs72913585	1.00[AMR][1000 genomes]
rs72913586	1.00[AMR][1000 genomes]
rs72913589	1.00[AMR][1000 genomes]
rs72913594	1.00[AMR][1000 genomes]
rs72913595	1.00[AMR][1000 genomes]
rs72913599	1.00[AMR][1000 genomes]
rs72913601	1.00[AMR][1000 genomes]
rs72915503	1.00[AMR][1000 genomes]
rs72915504	1.00[AMR][1000 genomes]
rs72915505	1.00[AMR][1000 genomes]
rs72915506	1.00[AMR][1000 genomes]
rs72915521	1.00[AMR][1000 genomes]
rs72915522	1.00[AMR][1000 genomes]
rs72915524	1.00[AMR][1000 genomes]
rs72915527	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919563	1.00[AMR][1000 genomes]
rs72919564	1.00[AMR][1000 genomes]
rs72919589	0.84[AFR][1000 genomes]
rs9282771	1.00[AMR][1000 genomes]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59279600-59281800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr1:59279800-59282400	Flanking Active TSS	HMEC	breast
3	chr1:59279800-59283400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:59280000-59281800	Flanking Active TSS	Fetal Intestine Large	intestine
5	chr1:59280000-59281800	Flanking Active TSS	Fetal Stomach	stomach
6	chr1:59280000-59282000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr1:59280000-59282400	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr1:59280000-59282600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:59280000-59282600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr1:59280000-59282600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr1:59280000-59282600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr1:59280000-59282600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:59280200-59281800	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr1:59280200-59281800	Flanking Active TSS	Osteobl	bone
15	chr1:59280200-59282400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr1:59280200-59282400	Flanking Active TSS	NHEK	skin
17	chr1:59280200-59282600	Active TSS	H9 Cell Line	embryonic stem cell
18	chr1:59280200-59282600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr1:59280200-59282600	Active TSS	Left Ventricle	heart
20	chr1:59280400-59281800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:59280400-59281800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:59280400-59281800	Flanking Active TSS	Fetal Lung	lung
23	chr1:59280400-59282000	Flanking Active TSS	Fetal Muscle Trunk	muscle
24	chr1:59280400-59282400	Active TSS	Brain Hippocampus Middle	brain
25	chr1:59280600-59281800	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr1:59280600-59281800	Flanking Active TSS	K562	blood
27	chr1:59280600-59282000	Flanking Active TSS	GM12878-XiMat	blood
28	chr1:59280600-59282400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:59280600-59282400	Active TSS	Lung	lung
30	chr1:59280600-59282600	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr1:59280600-59282600	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr1:59280600-59282600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr1:59280600-59282600	Active TSS	Fetal Kidney	kidney
34	chr1:59280600-59282600	Flanking Active TSS	Fetal Muscle Leg	muscle
35	chr1:59280600-59282800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:59280600-59282800	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr1:59280800-59281800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr1:59280800-59281800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr1:59280800-59281800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr1:59280800-59281800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:59280800-59282400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:59280800-59282400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr1:59280800-59282400	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr1:59280800-59282600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
45	chr1:59280800-59282600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:59280800-59282600	Active TSS	Brain Cingulate Gyrus	brain
47	chr1:59280800-59282600	Active TSS	Psoas Muscle	Psoas
48	chr1:59280800-59282600	Active TSS	Right Atrium	heart
49	chr1:59280800-59282600	Active TSS	Right Ventricle	heart
50	chr1:59281000-59281800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus

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