Variant report

Variant	rs73072545
Chromosome Location	chr1:212208328-212208329
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	CTCF	chr1:212208232-212208808	T-47D	breast:	n/a	chr1:212208623-212208636 chr1:212208424-212208442 chr1:212208613-212208634 chr1:212208620-212208638 chr1:212208620-212208633 chr1:212208622-212208643 chr1:212208618-212208636 chr1:212208621-212208637 chr1:212208624-212208633
2	HA-E2F1	chr1:212208232-212209585	MCF-7	breast:	n/a	chr1:212209082-212209090 chr1:212209077-212209092 chr1:212208511-212208518 chr1:212209082-212209090 chr1:212209094-212209101 chr1:212209081-212209091 chr1:212208511-212208518 chr1:212209071-212209080 chr1:212209081-212209092 chr1:212208587-212208596 chr1:212209082-212209093 chr1:212209073-212209082 chr1:212208949-212208958 chr1:212209002-212209011 chr1:212208511-212208518 chr1:212209082-212209089 chr1:212208898-212208907
3	MAX	chr1:212208121-212209696	NB4	blood:	n/a	chr1:212208643-212208652
4	POLR2A	chr1:212207997-212209428	HCT-116	colon:	n/a	n/a
5	MYBL2	chr1:212208125-212209477	HepG2	liver:	n/a	chr1:212209290-212209305
6	IRF3	chr1:212208268-212209326	Hela-S3	cervix:	n/a	chr1:212209001-212209015
7	MAX	chr1:212208197-212209573	SK-N-SH	brain:	n/a	chr1:212208643-212208652
8	MYC	chr1:212207746-212209655	A549	lung:	n/a	chr1:212208643-212208652
9	TAF1	chr1:212208208-212209453	A549	lung:	n/a	n/a
10	ATF2	chr1:212208209-212208948	H1-hESC	embryonic stem cell:	n/a	n/a
11	RAD21	chr1:212207874-212209466	SK-N-SH	brain:	n/a	chr1:212208616-212208635 chr1:212208620-212208634 chr1:212208621-212208640 chr1:212208625-212208634
12	YY1	chr1:212208316-212209393	HepG2	liver:	n/a	chr1:212208833-212208853
13	JUND	chr1:212207999-212209638	K562	blood:	n/a	chr1:212209072-212209081 chr1:212209058-212209067
14	STAT5A	chr1:212208157-212209654	K562	blood:	n/a	chr1:212209315-212209338
15	TBL1XR1	chr1:212207742-212209819	K562	blood:	n/a	n/a
16	CEBPB	chr1:212207945-212209491	Hela-S3	cervix:	n/a	chr1:212209057-212209065 chr1:212208358-212208369 chr1:212208356-212208367 chr1:212208356-212208369
17	MAX	chr1:212208288-212209465	HepG2	liver:	n/a	chr1:212208643-212208652
18	POLR2A	chr1:212207936-212209565	K562	blood:	n/a	n/a
19	CHD2	chr1:212208248-212209542	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr1:212208317-212208777	GM10248	blood:	n/a	chr1:212208623-212208636 chr1:212208424-212208442 chr1:212208613-212208634 chr1:212208620-212208638 chr1:212208620-212208633 chr1:212208622-212208643 chr1:212208618-212208636 chr1:212208621-212208637 chr1:212208624-212208633
21	MTA3	chr1:212208052-212208928	GM12878	blood:	n/a	n/a
22	CHD2	chr1:212208123-212209688	K562	blood:	n/a	n/a
23	SMC3	chr1:212208210-212209359	K562	blood:	n/a	chr1:212208620-212208634 chr1:212208622-212208636 chr1:212208627-212208634
24	UBTF	chr1:212208032-212209595	K562	blood:	n/a	n/a
25	POLR2A	chr1:212207982-212209730	K562	blood:	n/a	n/a
26	CTCF	chr1:212208324-212208905	GM19240	blood:	n/a	chr1:212208623-212208636 chr1:212208424-212208442 chr1:212208613-212208634 chr1:212208620-212208638 chr1:212208620-212208633 chr1:212208622-212208643 chr1:212208618-212208636 chr1:212208621-212208637 chr1:212208624-212208633
27	SIN3AK20	chr1:212208276-212209596	SK-N-SH	brain:	n/a	n/a
28	CTCF	chr1:212208315-212208774	ECC-1	luminal epithelium:	n/a	chr1:212208623-212208636 chr1:212208424-212208442 chr1:212208613-212208634 chr1:212208620-212208638 chr1:212208620-212208633 chr1:212208622-212208643 chr1:212208618-212208636 chr1:212208621-212208637 chr1:212208624-212208633
29	YY1	chr1:212208296-212209433	GM12878	blood:	n/a	chr1:212208833-212208853
30	EGR1	chr1:212208312-212209239	K562	blood:	n/a	chr1:212208949-212208958 chr1:212208898-212208907 chr1:212208541-212208556 chr1:212208587-212208596 chr1:212208568-212208578 chr1:212209097-212209107
31	ETS1	chr1:212208093-212209470	A549	lung:	n/a	chr1:212209119-212209132
32	CHD1	chr1:212208183-212209576	GM12878	blood:	n/a	n/a
33	GTF2F1	chr1:212208001-212209484	Hela-S3	cervix:	n/a	n/a
34	CEBPD	chr1:212207965-212209506	K562	blood:	n/a	chr1:212208357-212208368
35	CREB1	chr1:212208067-212209521	K562	blood:	n/a	n/a
36	STAT3	chr1:212208226-212208785	Hela-S3	cervix:	n/a	n/a
37	TAF1	chr1:212208234-212209567	PFSK-1	brain:	n/a	n/a
38	RAD21	chr1:212208185-212208810	H1-hESC	embryonic stem cell:	n/a	chr1:212208616-212208635 chr1:212208620-212208634 chr1:212208621-212208640 chr1:212208625-212208634
39	CEBPB	chr1:212208037-212209079	GM12878	blood:	n/a	chr1:212209057-212209065 chr1:212208358-212208369 chr1:212208356-212208367 chr1:212208356-212208369
40	PML	chr1:212207924-212209469	K562	blood:	n/a	n/a
41	POLR2A	chr1:212208142-212209353	GM18951	blood:	n/a	n/a
42	RAD21	chr1:212208170-212208762	A549	lung:	n/a	chr1:212208616-212208635 chr1:212208620-212208634 chr1:212208621-212208640 chr1:212208625-212208634
43	MXI1	chr1:212208018-212209634	Hela-S3	cervix:	n/a	n/a
44	CBX3	chr1:212207864-212209774	K562	blood:	n/a	n/a
45	MAX	chr1:212208150-212209709	Hela-S3	cervix:	n/a	chr1:212208643-212208652
46	CTCF	chr1:212208327-212208812	NHEK	skin:	n/a	chr1:212208623-212208636 chr1:212208424-212208442 chr1:212208613-212208634 chr1:212208620-212208638 chr1:212208620-212208633 chr1:212208622-212208643 chr1:212208618-212208636 chr1:212208621-212208637 chr1:212208624-212208633
47	RAD21	chr1:212208190-212208670	ECC-1	luminal epithelium:	n/a	chr1:212208616-212208635 chr1:212208620-212208634 chr1:212208621-212208640 chr1:212208625-212208634
48	FOXA1	chr1:212208288-212208832	HepG2	liver:	n/a	n/a
49	MAX	chr1:212208271-212209567	H1-hESC	embryonic stem cell:	n/a	chr1:212208643-212208652
50	ETS1	chr1:212208312-212209398	K562	blood:	n/a	chr1:212209119-212209132

No.	Distal block	Cell Line	Cell type
1	chr1:211431809..211433608-chr1:212207599..212209157,2	K562	blood:
2	chr1:211871610..211872409-chr1:212207948..212208483,2	K562	blood:
3	chr1:212207393..212212126-chr1:212456103..212460187,5	K562	blood:
4	chr1:212185007..212185940-chr1:212207933..212208829,8	MCF-7	breast:
5	chr1:212142033..212144283-chr1:212206917..212209374,2	K562	blood:
6	chr1:212181923..212187043-chr1:212203247..212211054,10	K562	blood:
7	chr1:212137132..212139456-chr1:212205967..212208456,2	K562	blood:
8	chr1:212208005..212208644-chr1:212235885..212236879,2	K562	blood:
9	chr1:212206622..212210088-chr1:212456790..212460936,6	K562	blood:
10	chr1:212206891..212208441-chr1:212211909..212213931,2	MCF-7	breast:
11	chr1:211848085..211850740-chr1:212207683..212210151,5	K562	blood:
12	chr1:212002304..212005337-chr1:212206926..212210304,4	K562	blood:
13	chr1:212184529..212186284-chr1:212207112..212208780,2	MCF-7	breast:
14	chr1:211852709..211854436-chr1:212207075..212208654,2	K562	blood:

Variant related genes	Relation type
DTL	TF binding region
ENSG00000231057	Chromatin interaction
ENSG00000066027	Chromatin interaction
ENSG00000117625	Chromatin interaction
ENSG00000117650	Chromatin interaction
ENSG00000229258	Chromatin interaction
ENSG00000143493	Chromatin interaction
ENSG00000123684	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs17018239	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018259	1.00[AMR][1000 genomes]
rs17018260	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018263	1.00[AMR][1000 genomes]
rs17018265	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018280	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018509	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018527	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34836942	0.85[AFR][1000 genomes]
rs57157835	0.82[AFR][1000 genomes]
rs57590060	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58628059	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58894487	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60848591	0.82[AFR][1000 genomes]
rs6676589	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072526	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072531	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73089293	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73089296	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73091040	1.00[AMR][1000 genomes]
rs73091041	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73091053	0.82[AFR][1000 genomes]
rs73091059	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73091206	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73091209	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73091210	0.94[AFR][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212206800-212210400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:212207000-212209600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:212207000-212210400	Active TSS	NHLF	lung
4	chr1:212207000-212211000	Active TSS	GM12878-XiMat	blood
5	chr1:212207200-212209200	Active TSS	HepG2	liver
6	chr1:212207200-212209600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:212207200-212210600	Active TSS	Hela-S3	cervix
8	chr1:212207200-212210600	Active TSS	K562	blood
9	chr1:212207200-212210800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:212207200-212211400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:212207400-212208400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:212207400-212209200	Active TSS	Duodenum Mucosa	Duodenum
13	chr1:212207400-212209800	Active TSS	Osteobl	bone
14	chr1:212207400-212210200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:212207400-212210400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:212207400-212210400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:212207400-212210400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:212207400-212210400	Active TSS	Fetal Intestine Large	intestine
19	chr1:212207400-212210400	Active TSS	HMEC	breast
20	chr1:212207400-212210600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:212207400-212210600	Active TSS	NHEK	skin
22	chr1:212207400-212210800	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr1:212207400-212210800	Active TSS	A549	lung
24	chr1:212207400-212211200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:212207600-212208400	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr1:212207600-212208400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr1:212207600-212208400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr1:212207600-212209200	Active TSS	Colon Smooth Muscle	Colon
29	chr1:212207600-212209200	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr1:212207600-212209400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:212207600-212209400	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr1:212207600-212209600	Active TSS	Fetal Lung	lung
33	chr1:212207600-212209800	Active TSS	Fetal Intestine Small	intestine
34	chr1:212207600-212209800	Active TSS	Psoas Muscle	Psoas
35	chr1:212207600-212209800	Active TSS	Stomach Smooth Muscle	stomach
36	chr1:212207600-212210200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:212207600-212210200	Active TSS	Muscle Satellite Cultured Cells	--
38	chr1:212207600-212210400	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr1:212207600-212210400	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr1:212207600-212210400	Active TSS	HSMM	muscle
41	chr1:212207600-212210400	Active TSS	NH-A	brain
42	chr1:212207600-212210600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:212207600-212210600	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr1:212207600-212210600	Active TSS	NHDF-Ad	bronchial
45	chr1:212207600-212210800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:212207600-212210800	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr1:212207600-212210800	Active TSS	Fetal Kidney	kidney
48	chr1:212207600-212210800	Active TSS	Fetal Muscle Leg	muscle
49	chr1:212207600-212211000	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr1:212207600-212211400	Active TSS	H1 Cell Line	embryonic stem cell

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