Variant report

Variant	rs57865781
Chromosome Location	chr1:154244661-154244662
allele	G/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	chr1:154243503-154245611	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr1:154244541-154245183	HepG2	liver:	n/a	n/a
3	RAD21	chr1:154244415-154245873	SK-N-SH	brain:	n/a	chr1:154244811-154244823 chr1:154244813-154244823 chr1:154244812-154244825 chr1:154244809-154244828
4	RAD21	chr1:154244595-154244961	GM12878	blood:	n/a	chr1:154244811-154244823 chr1:154244813-154244823 chr1:154244812-154244825 chr1:154244809-154244828
5	ZKSCAN1	chr1:154244642-154245247	Hela-S3	cervix:	n/a	n/a
6	HDAC2	chr1:154244629-154245278	K562	blood:	n/a	n/a
7	POLR2A	chr1:154244596-154245340	Hela-S3	cervix:	n/a	n/a
8	MAX	chr1:154244520-154245310	SK-N-SH	brain:	n/a	n/a
9	EBF1	chr1:154244655-154245026	GM12878	blood:	n/a	n/a
10	SMC3	chr1:154244502-154245568	Hela-S3	cervix:	n/a	chr1:154244813-154244827
11	NRF1	chr1:154244475-154245673	SK-N-SH	brain:	n/a	n/a
12	STAT1	chr1:154244645-154245357	GM12878	blood:	n/a	chr1:154244927-154244938
13	POLR2A	chr1:154243903-154245572	Hela-S3	cervix:	n/a	n/a
14	SIN3AK20	chr1:154244361-154244940	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr1:154244619-154245308	HepG2	liver:	n/a	n/a
16	POLR2A	chr1:154244595-154245366	GM18951	blood:	n/a	n/a
17	CREB1	chr1:154244572-154245625	HepG2	liver:	n/a	n/a
18	POLR2A	chr1:154244341-154245382	U87	brain:	n/a	n/a
19	RAD21	chr1:154244548-154245207	HepG2	liver:	n/a	chr1:154244811-154244823 chr1:154244813-154244823 chr1:154244812-154244825 chr1:154244809-154244828
20	CTCF	chr1:154244573-154245051	T-47D	breast:	n/a	chr1:154244813-154244826 chr1:154244811-154244829 chr1:154244806-154244827
21	CTCF	chr1:154244608-154244973	H1-hESC	embryonic stem cell:	n/a	chr1:154244813-154244826 chr1:154244811-154244829 chr1:154244806-154244827
22	GATA1	chr1:154244540-154245345	PBDE	blood:	n/a	chr1:154244989-154244999
23	MAX	chr1:154244652-154245239	K562	blood:	n/a	n/a
24	SP4	chr1:154244634-154245263	H1-hESC	embryonic stem cell:	n/a	chr1:154244940-154244956
25	YY1	chr1:154244623-154245723	GM12878	blood:	n/a	chr1:154244804-154244815 chr1:154244748-154244759
26	CHD2	chr1:154244632-154245269	Hela-S3	cervix:	n/a	n/a
27	RAD21	chr1:154244618-154245207	ECC-1	luminal epithelium:	n/a	chr1:154244811-154244823 chr1:154244813-154244823 chr1:154244812-154244825 chr1:154244809-154244828
28	NFIC	chr1:154244540-154245359	GM12878	blood:	n/a	n/a
29	RAD21	chr1:154244628-154245352	A549	lung:	n/a	chr1:154244811-154244823 chr1:154244813-154244823 chr1:154244812-154244825 chr1:154244809-154244828
30	PML	chr1:154244588-154245382	MCF-7	breast:	n/a	n/a
31	BACH1	chr1:154244633-154245480	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr1:154244650-154245506	PBDE	blood:	n/a	n/a
33	POU2F2	chr1:154244623-154245307	GM12891	blood:	n/a	n/a
34	POLR2A	chr1:154244623-154245391	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:154243763-154245841	Hela-S3	cervix:	n/a	n/a
36	MAZ	chr1:154244614-154245457	GM12878	blood:	n/a	n/a
37	POLR2A	chr1:154244551-154245528	GM12878	blood:	n/a	n/a
38	JUND	chr1:154244571-154245592	H1-hESC	embryonic stem cell:	n/a	n/a
39	IRF4	chr1:154244633-154245271	GM12878	blood:	n/a	chr1:154244925-154244939
40	CREB1	chr1:154244586-154245292	ECC-1	luminal epithelium:	n/a	n/a
41	SMC3	chr1:154244605-154245178	GM12878	blood:	n/a	chr1:154244813-154244827
42	POLR2A	chr1:154244632-154245600	K562	blood:	n/a	n/a
43	PML	chr1:154244372-154245595	GM12878	blood:	n/a	n/a
44	CTCF	chr1:154244656-154244939	SK-N-SH_RA	brain:	n/a	chr1:154244813-154244826 chr1:154244811-154244829 chr1:154244806-154244827
45	POLR2A	chr1:154244507-154245709	MCF10A-Er-Src	breast:	n/a	n/a
46	YY1	chr1:154244622-154245350	GM12878	blood:	n/a	chr1:154244804-154244815 chr1:154244748-154244759
47	POLR2A	chr1:154244511-154245545	GM12892	blood:	n/a	n/a
48	POLR2A	chr1:154244542-154245534	IMR90	lung:	n/a	n/a
49	POLR2A	chr1:154244387-154245405	SK-N-MC	brain:	n/a	n/a
50	POLR2A	chr1:154244661-154245386	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:154244115..154246363-chr1:154579238..154580739,2	MCF-7	breast:
2	chr1:154154597..154158912-chr1:154243474..154246502,4	K562	blood:
3	chr1:154226522..154228397-chr1:154244257..154246291,2	MCF-7	breast:
4	chr1:154186853..154188633-chr1:154242456..154244980,2	K562	blood:
5	chr1:154244396..154246200-chr1:154300299..154302808,2	MCF-7	breast:
6	chr1:154230167..154232199-chr1:154243259..154245293,2	MCF-7	breast:
7	chr1:153962369..153964805-chr1:154243433..154246826,4	MCF-7	breast:
8	chr1:154241102..154242733-chr1:154243304..154244878,2	K562	blood:
9	chr1:154150174..154152704-chr1:154242243..154245750,3	MCF-7	breast:
10	chr1:154191842..154194909-chr1:154241050..154247826,7	K562	blood:
11	chr1:154232943..154234670-chr1:154243289..154244824,2	K562	blood:
12	chr1:154191445..154194835-chr1:154242300..154245672,3	MCF-7	breast:
13	chr1:154157620..154160474-chr1:154243122..154244827,3	MCF-7	breast:
14	chr1:154162391..154165167-chr1:154243401..154246301,3	K562	blood:
15	chr1:154243817..154246754-chr1:154291993..154294660,2	K562	blood:
16	chr1:154161792..154164519-chr1:154243896..154245592,2	MCF-7	breast:
17	chr1:154155037..154157341-chr1:154243497..154245632,3	MCF-7	breast:
18	chr1:154229083..154233148-chr1:154241548..154245187,5	K562	blood:
19	chr1:154154912..154155728-chr1:154244605..154245361,2	MCF-7	breast:
20	chr1:154242198..154244909-chr1:154262951..154265772,2	K562	blood:
21	chr1:153963157..153965644-chr1:154243334..154246314,2	K562	blood:
22	chr1:154236442..154241812-chr1:154243586..154247600,7	MCF-7	breast:

Variant related genes	Relation type
HAX1	TF binding region
ENSG00000143549	Chromatin interaction
ENSG00000143515	Chromatin interaction
ENSG00000201129	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000160710	Chromatin interaction
ENSG00000252817	Chromatin interaction
ENSG00000143595	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000177954	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs35065691	1.00[AMR][1000 genomes]
rs73020693	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
4	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	esv3451054	chr1:154182013-154360141	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154243200-154244800	Weak transcription	Lung	lung
2	chr1:154243600-154244800	Weak transcription	Spleen	Spleen
3	chr1:154244000-154244800	Flanking Active TSS	Dnd41	blood
4	chr1:154244000-154246000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr1:154244200-154244800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:154244200-154244800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr1:154244200-154245200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:154244200-154245400	Active TSS	Stomach Smooth Muscle	stomach
9	chr1:154244200-154245600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:154244200-154245600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:154244200-154245600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:154244200-154245600	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr1:154244200-154245600	Active TSS	Hela-S3	cervix
14	chr1:154244200-154245800	Active TSS	H1 Cell Line	embryonic stem cell
15	chr1:154244200-154245800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:154244200-154245800	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr1:154244200-154245800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr1:154244200-154245800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:154244200-154245800	Active TSS	Fetal Brain Female	brain
20	chr1:154244200-154246000	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr1:154244200-154246200	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:154244200-154246200	Active TSS	A549	lung
23	chr1:154244200-154246400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:154244400-154244800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr1:154244400-154244800	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr1:154244400-154244800	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr1:154244400-154244800	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr1:154244400-154244800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr1:154244400-154244800	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr1:154244400-154244800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:154244400-154244800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr1:154244400-154244800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:154244400-154244800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr1:154244400-154244800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr1:154244400-154244800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:154244400-154244800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr1:154244400-154244800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:154244400-154244800	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr1:154244400-154244800	Flanking Active TSS	Liver	Liver
40	chr1:154244400-154244800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:154244400-154244800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr1:154244400-154244800	Flanking Active TSS	Fetal Muscle Trunk	muscle
43	chr1:154244400-154244800	Flanking Active TSS	Fetal Thymus	thymus
44	chr1:154244400-154244800	Flanking Active TSS	HUVEC	blood vessel
45	chr1:154244400-154245200	Active TSS	Fetal Brain Male	brain
46	chr1:154244400-154245400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:154244400-154245400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:154244400-154245400	Active TSS	Brain Germinal Matrix	brain
49	chr1:154244400-154245400	Active TSS	Colonic Mucosa	Colon
50	chr1:154244400-154245400	Active TSS	Fetal Muscle Leg	muscle

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