Variant report

Variant	rs73421753
Chromosome Location	chr12:122751438-122751439
allele	A/C
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	NFIC	chr12:122750673-122751600	GM12878	blood:	n/a	n/a
2	EP300	chr12:122750590-122751497	A549	lung:	n/a	n/a
3	TAF1	chr12:122750484-122751515	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr12:122750073-122751848	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr12:122750354-122751775	HUVEC	blood vessel:	n/a	n/a
6	USF1	chr12:122750694-122751528	A549	lung:	n/a	chr12:122751026-122751035 chr12:122751021-122751042 chr12:122751026-122751037 chr12:122751027-122751036 chr12:122751027-122751036 chr12:122751025-122751038 chr12:122751028-122751037
7	STAT5A	chr12:122750746-122751520	K562	blood:	n/a	n/a
8	USF1	chr12:122750368-122751563	SK-N-SH	brain:	n/a	chr12:122751026-122751035 chr12:122751021-122751042 chr12:122751026-122751037 chr12:122751027-122751036 chr12:122751027-122751036 chr12:122751025-122751038 chr12:122751028-122751037
9	POLR2A	chr12:122750455-122751826	GM18505	blood:	n/a	n/a
10	SIN3AK20	chr12:122750612-122751489	MCF-7	breast:	n/a	n/a
11	CREB1	chr12:122750704-122751718	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr12:122750397-122751882	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr12:122750210-122751962	HepG2	liver:	n/a	n/a
14	CTCF	chr12:122750896-122751803	K562	blood:	n/a	n/a
15	POLR2A	chr12:122751429-122751763	HCT-116	colon:	n/a	n/a
16	POLR2A	chr12:122750271-122751921	GM12891	blood:	n/a	n/a
17	SP1	chr12:122750609-122751505	HCT-116	colon:	n/a	chr12:122750839-122750851
18	POLR2A	chr12:122750451-122751626	HUVEC	blood vessel:	n/a	n/a
19	ELF1	chr12:122750435-122751471	A549	lung:	n/a	chr12:122751072-122751083
20	RUNX3	chr12:122751404-122751761	GM12878	blood:	n/a	n/a
21	SIN3A	chr12:122750375-122751579	H1-hESC	embryonic stem cell:	n/a	chr12:122751044-122751053 chr12:122751028-122751037 chr12:122751026-122751035
22	POLR2A	chr12:122750351-122751723	GM12891	blood:	n/a	n/a
23	POLR2A	chr12:122750485-122751454	GM12878	blood:	n/a	n/a
24	POLR2A	chr12:122750536-122751660	GM12892	blood:	n/a	n/a
25	POLR2A	chr12:122750565-122752045	U87	brain:	n/a	n/a
26	JUND	chr12:122750555-122751853	H1-hESC	embryonic stem cell:	n/a	n/a
27	HEY1	chr12:122750516-122751755	K562	blood:	n/a	n/a
28	TCF12	chr12:122750489-122751490	ECC-1	luminal epithelium:	n/a	n/a
29	RAD21	chr12:122751365-122751759	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr12:122751438-122751756	K562	blood:	n/a	n/a
31	NFATC1	chr12:122750750-122751741	GM12878	blood:	n/a	n/a
32	CEBPB	chr12:122750750-122751448	GM12878	blood:	n/a	n/a
33	CTCF	chr12:122751420-122751570	GM12868	blood:	n/a	n/a
34	ATF2	chr12:122750821-122751565	H1-hESC	embryonic stem cell:	n/a	n/a
35	FOSL2	chr12:122750555-122751494	A549	lung:	n/a	n/a
36	RAD21	chr12:122751404-122751754	SK-N-SH_RA	brain:	n/a	n/a
37	ELF1	chr12:122750421-122751615	HCT-116	colon:	n/a	chr12:122751072-122751083
38	ELF1	chr12:122750571-122751634	GM12878	blood:	n/a	chr12:122751072-122751083
39	POLR2A	chr12:122750430-122751510	SK-N-MC	brain:	n/a	n/a
40	POLR2A	chr12:122750444-122751760	Hela-S3	cervix:	n/a	n/a
41	MXI1	chr12:122750620-122751464	K562	blood:	n/a	chr12:122751044-122751053 chr12:122751028-122751037
42	POLR2A	chr12:122750357-122751876	K562	blood:	n/a	n/a
43	MXI1	chr12:122750503-122751957	Hela-S3	cervix:	n/a	chr12:122751044-122751053 chr12:122751028-122751037
44	ELF1	chr12:122750602-122751473	A549	lung:	n/a	chr12:122751072-122751083
45	HCFC1	chr12:122750659-122751603	K562	blood:	n/a	n/a
46	REST	chr12:122750216-122751609	H1-neurons	neurons:	n/a	chr12:122750962-122750975
47	USF1	chr12:122750331-122751544	HCT-116	colon:	n/a	chr12:122751026-122751035 chr12:122751021-122751042 chr12:122751026-122751037 chr12:122751027-122751036 chr12:122751027-122751036 chr12:122751025-122751038 chr12:122751028-122751037
48	BCL3	chr12:122750291-122751495	A549	lung:	n/a	chr12:122750561-122750570
49	HEY1	chr12:122751355-122751721	HepG2	liver:	n/a	n/a
50	POLR2A	chr12:122750481-122751472	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122708152..122712753-chr12:122748620..122752557,8	K562	blood:
2	chr12:122459684..122462243-chr12:122749527..122751932,2	MCF-7	breast:
3	chr12:122750925..122753898-chr12:123011768..123013408,2	MCF-7	breast:
4	chr12:122748134..122753515-chr12:122760156..122766963,8	K562	blood:
5	chr12:122688160..122690771-chr12:122750336..122752523,2	MCF-7	breast:
6	chr12:122750844..122751667-chr17:78120457..78121229,2	Hela-S3	cervix:
7	chr12:122710760..122712392-chr12:122751088..122752946,2	MCF-7	breast:
8	chr12:122750460..122753402-chr12:122760156..122762778,3	K562	blood:
9	chr1:228635449..228637961-chr12:122750153..122751748,2	MCF-7	breast:
10	chr12:122707649..122712350-chr12:122748538..122752681,8	K562	blood:
11	chr12:122749733..122752495-chr12:122984163..122985921,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256861	TF binding region
VPS33A	TF binding region
ENSG00000033030	Chromatin interaction
ENSG00000184047	Chromatin interaction
ENSG00000110987	Chromatin interaction
ENSG00000141543	Chromatin interaction
ENSG00000184445	Chromatin interaction
ENSG00000130779	Chromatin interaction
ENSG00000230841	Chromatin interaction
ENSG00000176383	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs73404006	0.97[AFR][1000 genomes]
rs73404008	0.84[AFR][1000 genomes]
rs73404013	0.88[AFR][1000 genomes]
rs73404020	0.84[AFR][1000 genomes]
rs73404031	0.81[AFR][1000 genomes]
rs73404040	0.91[AFR][1000 genomes]
rs73404045	0.84[AFR][1000 genomes]
rs73404046	0.84[AFR][1000 genomes]
rs73404050	0.94[AFR][1000 genomes]
rs73421716	0.86[AFR][1000 genomes]
rs73421737	0.87[AFR][1000 genomes]
rs73421739	0.87[AFR][1000 genomes]
rs73421744	0.87[AFR][1000 genomes]
rs73421747	0.87[AFR][1000 genomes]
rs7972230	0.97[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 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	chr12:122749400-122752000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr12:122749600-122751800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr12:122749600-122751800	Active TSS	Thymus	Thymus
4	chr12:122749600-122752000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr12:122749800-122751800	Active TSS	K562	blood
6	chr12:122749800-122752000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:122749800-122752000	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr12:122749800-122752000	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr12:122749800-122752000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:122749800-122752200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:122750000-122751800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:122750000-122751800	Active TSS	Fetal Brain Male	brain
13	chr12:122750000-122751800	Active TSS	Fetal Intestine Large	intestine
14	chr12:122750000-122751800	Active TSS	Fetal Intestine Small	intestine
15	chr12:122750000-122751800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr12:122750000-122751800	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr12:122750000-122751800	Active TSS	A549	lung
18	chr12:122750000-122751800	Active TSS	HSMM	muscle
19	chr12:122750000-122751800	Active TSS	HSMMtube	muscle
20	chr12:122750000-122752000	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr12:122750000-122752000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:122750000-122752000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:122750000-122752000	Active TSS	Right Atrium	heart
24	chr12:122750000-122752200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:122750200-122751600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr12:122750200-122751600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:122750200-122751600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:122750200-122751600	Active TSS	Gastric	stomach
29	chr12:122750200-122751800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:122750200-122751800	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr12:122750200-122751800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:122750200-122751800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:122750200-122751800	Active TSS	Brain Anterior Caudate	brain
34	chr12:122750200-122751800	Active TSS	Esophagus	oesophagus
35	chr12:122750200-122751800	Active TSS	Fetal Kidney	kidney
36	chr12:122750200-122751800	Active TSS	Left Ventricle	heart
37	chr12:122750200-122751800	Active TSS	Pancreas	Pancrea
38	chr12:122750200-122751800	Active TSS	Psoas Muscle	Psoas
39	chr12:122750200-122751800	Active TSS	HMEC	breast
40	chr12:122750200-122751800	Active TSS	NHDF-Ad	bronchial
41	chr12:122750200-122752000	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr12:122750200-122752000	Active TSS	H1 Cell Line	embryonic stem cell
43	chr12:122750200-122752000	Active TSS	H9 Cell Line	embryonic stem cell
44	chr12:122750200-122752000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:122750200-122752000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:122750200-122752000	Active TSS	Right Ventricle	heart
47	chr12:122750400-122751600	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr12:122750400-122751600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:122750400-122751600	Active TSS	Brain Hippocampus Middle	brain
50	chr12:122750400-122751600	Active TSS	Lung	lung

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