Variant report

Variant	rs73285641
Chromosome Location	chr12:42720030-42720031
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:401)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr12:42719496-42720233	A549	lung:	n/a	chr12:42719831-42719844 chr12:42720091-42720101 chr12:42720093-42720107 chr12:42719672-42719685
2	MAX	chr12:42719666-42720202	SK-N-SH	brain:	n/a	n/a
3	HCFC1	chr12:42719447-42720234	K562	blood:	n/a	n/a
4	JUND	chr12:42719321-42720746	K562	blood:	n/a	chr12:42720472-42720480 chr12:42720470-42720481 chr12:42720471-42720480 chr12:42720470-42720482 chr12:42720472-42720481 chr12:42720472-42720479
5	POLR2A	chr12:42719560-42720381	GM12878	blood:	n/a	n/a
6	SP1	chr12:42719528-42720125	H1-hESC	embryonic stem cell:	n/a	chr12:42719831-42719844 chr12:42720091-42720101 chr12:42720093-42720107 chr12:42719672-42719685
7	ARID3A	chr12:42719520-42720162	HepG2	liver:	n/a	n/a
8	POLR2A	chr12:42719351-42720220	K562	blood:	n/a	n/a
9	POLR2A	chr12:42718636-42720635	MCF10A-Er-Src	breast:	n/a	n/a
10	SIN3AK20	chr12:42719625-42720358	K562	blood:	n/a	n/a
11	POLR2A	chr12:42719491-42720374	Hela-S3	cervix:	n/a	n/a
12	CCNT2	chr12:42719666-42720096	K562	blood:	n/a	n/a
13	ELK1	chr12:42719660-42720156	GM12878	blood:	n/a	chr12:42719956-42719965 chr12:42719956-42719965
14	NFIC	chr12:42719376-42720175	ECC-1	luminal epithelium:	n/a	n/a
15	MAX	chr12:42719327-42720314	HepG2	liver:	n/a	n/a
16	NFIC	chr12:42719675-42720186	GM12878	blood:	n/a	n/a
17	CHD2	chr12:42719612-42720378	GM12878	blood:	n/a	n/a
18	MAX	chr12:42719362-42720341	HepG2	liver:	n/a	n/a
19	HCFC1	chr12:42717644-42721241	Hela-S3	cervix:	n/a	n/a
20	IRF1	chr12:42719699-42720187	K562	blood:	n/a	n/a
21	POLR2A	chr12:42719468-42720433	Hela-S3	cervix:	n/a	n/a
22	ATF3	chr12:42719730-42720105	K562	blood:	n/a	chr12:42719937-42719948 chr12:42719950-42719959
23	TCF12	chr12:42719304-42720397	A549	lung:	n/a	n/a
24	IRF4	chr12:42719715-42720228	GM12878	blood:	n/a	n/a
25	TBL1XR1	chr12:42719742-42720463	K562	blood:	n/a	n/a
26	ELK4	chr12:42719885-42720050	HEK293	kidney:	n/a	chr12:42719955-42719966
27	EP300	chr12:42719678-42720253	HepG2	liver:	n/a	chr12:42720090-42720103 chr12:42719957-42719964
28	RCOR1	chr12:42719467-42720164	K562	blood:	n/a	n/a
29	YY1	chr12:42719525-42720157	GM12892	blood:	n/a	n/a
30	POLR2A	chr12:42719479-42720266	Hela-S3	cervix:	n/a	n/a
31	GABPA	chr12:42719837-42720075	GM12878	blood:	n/a	n/a
32	YY1	chr12:42719561-42720177	GM12878	blood:	n/a	n/a
33	POLR2A	chr12:42719558-42720205	GM10847	blood:	n/a	n/a
34	POU2F2	chr12:42719593-42720236	GM12891	blood:	n/a	n/a
35	POLR2A	chr12:42719529-42720332	GM18505	blood:	n/a	n/a
36	MYC	chr12:42719741-42720935	MCF10A-Er-Src	breast:	n/a	chr12:42720471-42720480 chr12:42720472-42720481
37	POLR2A	chr12:42719285-42720369	SK-N-MC	brain:	n/a	n/a
38	POLR2A	chr12:42719596-42720236	HCT-116	colon:	n/a	n/a
39	POLR2A	chr12:42719643-42720191	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr12:42719633-42720209	K562	blood:	n/a	n/a
41	CREB1	chr12:42719679-42720224	K562	blood:	n/a	n/a
42	POLR2A	chr12:42719525-42720603	GM12878	blood:	n/a	n/a
43	CEBPB	chr12:42719938-42720079	H1-hESC	embryonic stem cell:	n/a	n/a
44	ATF2	chr12:42719754-42720053	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr12:42719405-42720372	HepG2	liver:	n/a	n/a
46	PML	chr12:42719534-42720276	K562	blood:	n/a	chr12:42719696-42719704
47	MYBL2	chr12:42719545-42720285	HepG2	liver:	n/a	n/a
48	SIN3AK20	chr12:42719690-42720107	HepG2	liver:	n/a	n/a
49	MAZ	chr12:42719464-42720054	HepG2	liver:	n/a	n/a
50	HMGN3	chr12:42719661-42720038	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:42720006-42720056	SK-N-MC	brain:	n/a
2	chr12:42720006-42720056	A549	lung:	n/a
3	chr12:42720006-42720056	H1-hESC	embryonic stem cell:	embryo
4	chr12:42720006-42720056	SAEC	small airway:	n/a
5	chr12:42720006-42720056	PrEC	prostate:	n/a
6	chr12:42720006-42720056	HCT-116	colon:	n/a
7	chr12:42720006-42720056	NHBE	bronchial:	n/a
8	chr12:42720006-42720056	SK-N-SH_RA	brain:	n/a
9	chr12:42720006-42720056	Caco-2	colon:	n/a
10	chr12:42720006-42720056	HMEC	breast:	n/a
11	chr12:42720006-42720056	Jurkat	blood:	n/a
12	chr12:42720006-42720056	HCF	heart:	n/a
13	chr12:42720006-42720056	NH-A	brain:	n/a
14	chr12:42720006-42720056	SK-N-SH	brain:	n/a
15	chr12:42720006-42720056	HepG2	liver:	n/a
16	chr12:42720006-42720056	K562	blood:	n/a
17	chr12:42720006-42720056	HEEpiC	esophagus:	n/a
18	chr12:42720006-42720056	AG04449	skin:	fetal
19	chr12:42720006-42720056	HL-60	blood:	n/a
20	chr12:42720006-42720056	HEK293	kidney:	embryo
21	chr12:42720006-42720056	PANC-1	pancreas:	n/a
22	chr12:42720006-42720056	MCF-7	breast:	n/a
23	chr12:42720006-42720056	NHDF-neo	bronchial:	n/a
24	chr12:42720006-42720056	HRCEpiC	kidney:	n/a
25	chr12:42720006-42720056	AG09309	skin:	n/a
26	chr12:42720006-42720056	AG10803	skin:	n/a
27	chr12:42720006-42720056	T-47D	breast:	n/a
28	chr12:42720006-42720056	GM12892	blood:	n/a
29	chr12:42720006-42720056	HIPEpiC	eye:	n/a
30	chr12:42720006-42720056	BJ	skin:	n/a
31	chr12:42720006-42720056	ECC-1	luminal epithelium:	n/a
32	chr12:42720006-42720056	Hepatocyte	liver:	n/a
33	chr12:42720006-42720056	AoSMC	blood vessel:	n/a
34	chr12:42720006-42720056	HCPEpiC	choroid plexus:	n/a
35	chr12:42720006-42720056	MCF10A-Er-Src	breast:	n/a
36	chr12:42720006-42720056	GM19239	blood:	n/a
37	chr12:42720006-42720056	PFSK-1	brain:	n/a
38	chr12:42720006-42720056	RPTEC	kidney:	n/a
39	chr12:42720006-42720056	HCM	heart:	n/a
40	chr12:42720006-42720056	CMK	blood:	n/a
41	chr12:42720006-42720056	SKMC	muscle:	n/a
42	chr12:42720006-42720056	HRE	kidney:	n/a
43	chr12:42720006-42720056	GM12891	blood:	n/a
44	chr12:42720006-42720056	HPAEpiC	pulmonary alveolar:	n/a
45	chr12:42720006-42720056	HAEpiC	amniotic membrane:	n/a
46	chr12:42720006-42720056	AG04450	lung:	fetal
47	chr12:42720006-42720056	HUVEC	blood vessel:	n/a
48	chr12:42720006-42720056	IMR90	lung:	fetal
49	chr12:42720006-42720056	HRPEpiC	eye:	n/a
50	chr12:42720006-42720056	HNPCEpiC	eye:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:42718314..42720744-chr12:42735500..42738358,4	K562	blood:
2	chr11:925818..926755-chr12:42719890..42720469,2	Hela-S3	cervix:
3	chr12:42630581..42632543-chr12:42717454..42720310,3	MCF-7	breast:
4	chr10:103879671..103880352-chr12:42719637..42720386,2	NB4	blood:
5	chr12:42536402..42539877-chr12:42717128..42721445,5	MCF-7	breast:
6	chr12:42719835..42720410-chr7:27224445..27225440,2	Hela-S3	cervix:
7	chr12:42719921..42720519-chr12:56842696..56843567,2	Hela-S3	cervix:
8	chr12:42631625..42634573-chr12:42719114..42721447,2	K562	blood:
9	chr12:42719966..42722637-chr12:42723927..42727064,4	K562	blood:
10	chr12:42536827..42538636-chr12:42719233..42721021,2	K562	blood:
11	chr12:42537125..42540322-chr12:42717377..42722308,7	MCF-7	breast:
12	chr12:42537136..42539433-chr12:42719521..42721782,2	K562	blood:
13	chr12:42629683..42634871-chr12:42717173..42721669,10	K562	blood:
14	chr12:42718944..42722637-chr12:42724163..42726509,5	K562	blood:

No data

Variant related genes	Relation type
ZCRB1	TF binding region
ZCRB1	CpG island
ENSG00000198728	Chromatin interaction
ENSG00000183020	Chromatin interaction
ENSG00000015153	Chromatin interaction
ENSG00000151233	Chromatin interaction
ENSG00000134283	Chromatin interaction
ENSG00000240990	Chromatin interaction
ENSG00000005073	Chromatin interaction
ENSG00000111602	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs11829039	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11829542	1.00[EUR][1000 genomes]
rs11830248	1.00[EUR][1000 genomes]
rs11830386	1.00[EUR][1000 genomes]
rs11831464	1.00[EUR][1000 genomes]
rs11832196	1.00[EUR][1000 genomes]
rs11832840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11833011	1.00[EUR][1000 genomes]
rs11833109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11833381	1.00[EUR][1000 genomes]
rs11834665	1.00[EUR][1000 genomes]
rs11837839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1234103	1.00[EUR][1000 genomes]
rs1683203	1.00[EUR][1000 genomes]
rs1688846	1.00[EUR][1000 genomes]
rs17091023	1.00[EUR][1000 genomes]
rs1873684	1.00[EUR][1000 genomes]
rs2406968	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2639131	1.00[EUR][1000 genomes]
rs56691329	1.00[EUR][1000 genomes]
rs57490344	1.00[EUR][1000 genomes]
rs57647260	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57955254	1.00[EUR][1000 genomes]
rs58229270	1.00[EUR][1000 genomes]
rs58676357	1.00[EUR][1000 genomes]
rs59190545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59577937	1.00[EUR][1000 genomes]
rs59645146	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60314019	1.00[EUR][1000 genomes]
rs60982601	1.00[EUR][1000 genomes]
rs61067658	1.00[EUR][1000 genomes]
rs7299386	1.00[EUR][1000 genomes]
rs7305651	1.00[EUR][1000 genomes]
rs73270269	1.00[EUR][1000 genomes]
rs73270275	1.00[EUR][1000 genomes]
rs73270279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73270293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272004	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272008	1.00[EUR][1000 genomes]
rs73272013	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272046	1.00[EUR][1000 genomes]
rs73272047	1.00[EUR][1000 genomes]
rs73272050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272072	1.00[EUR][1000 genomes]
rs73272073	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272080	1.00[EUR][1000 genomes]
rs73272091	1.00[EUR][1000 genomes]
rs73272101	1.00[EUR][1000 genomes]
rs73273911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73273932	1.00[EUR][1000 genomes]
rs73273975	1.00[EUR][1000 genomes]
rs73281814	1.00[EUR][1000 genomes]
rs73281820	1.00[EUR][1000 genomes]
rs73281838	1.00[EUR][1000 genomes]
rs73281851	1.00[EUR][1000 genomes]
rs73281860	1.00[EUR][1000 genomes]
rs73281880	1.00[EUR][1000 genomes]
rs73281886	1.00[EUR][1000 genomes]
rs73281894	1.00[EUR][1000 genomes]
rs73283707	1.00[EUR][1000 genomes]
rs73283734	1.00[EUR][1000 genomes]
rs73283759	1.00[EUR][1000 genomes]
rs73283792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285617	1.00[EUR][1000 genomes]
rs73285619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285631	1.00[AMR][1000 genomes]
rs73285662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs824690	1.00[EUR][1000 genomes]
rs824731	1.00[EUR][1000 genomes]
rs824732	1.00[EUR][1000 genomes]
rs824733	1.00[EUR][1000 genomes]
rs824735	1.00[EUR][1000 genomes]
rs824737	1.00[EUR][1000 genomes]
rs850965	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1048971	chr12:42651976-42801204	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 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	chr12:42718600-42720800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:42718600-42720800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr12:42718600-42720800	Active TSS	Rectal Smooth Muscle	rectum
4	chr12:42718600-42721000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr12:42718600-42721000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr12:42718600-42721400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr12:42718800-42720400	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr12:42718800-42720600	Active TSS	HSMM	muscle
9	chr12:42718800-42720800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:42718800-42720800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr12:42718800-42720800	Active TSS	NHLF	lung
12	chr12:42718800-42721000	Active TSS	H1 Cell Line	embryonic stem cell
13	chr12:42718800-42721600	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr12:42719000-42720400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:42719000-42720600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:42719000-42720600	Active TSS	Brain Angular Gyrus	brain
17	chr12:42719000-42720600	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr12:42719000-42720600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:42719000-42720600	Active TSS	Fetal Lung	lung
20	chr12:42719000-42720600	Active TSS	Fetal Muscle Leg	muscle
21	chr12:42719000-42720600	Active TSS	NH-A	brain
22	chr12:42719000-42720600	Active TSS	Osteobl	bone
23	chr12:42719000-42720800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr12:42719000-42720800	Active TSS	Fetal Intestine Large	intestine
25	chr12:42719000-42720800	Active TSS	Fetal Stomach	stomach
26	chr12:42719000-42720800	Active TSS	Stomach Smooth Muscle	stomach
27	chr12:42719000-42720800	Active TSS	HSMMtube	muscle
28	chr12:42719000-42721000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:42719000-42721000	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr12:42719000-42721000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:42719000-42721000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:42719000-42721000	Active TSS	A549	lung
33	chr12:42719000-42721000	Active TSS	HMEC	breast
34	chr12:42719000-42721200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:42719000-42721200	Active TSS	GM12878-XiMat	blood
36	chr12:42719000-42721800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:42719200-42720400	Active TSS	Brain Substantia Nigra	brain
38	chr12:42719200-42720400	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr12:42719200-42720600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:42719200-42720600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:42719200-42720600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:42719200-42720600	Active TSS	Brain Anterior Caudate	brain
43	chr12:42719200-42720600	Active TSS	Colon Smooth Muscle	Colon
44	chr12:42719200-42720600	Active TSS	Fetal Brain Male	brain
45	chr12:42719200-42720600	Active TSS	Fetal Muscle Trunk	muscle
46	chr12:42719200-42720600	Active TSS	Placenta	Placenta
47	chr12:42719200-42720600	Active TSS	Fetal Thymus	thymus
48	chr12:42719200-42720600	Active TSS	Placenta Amnion	Placenta Amnion
49	chr12:42719200-42720600	Active TSS	Psoas Muscle	Psoas
50	chr12:42719200-42720600	Active TSS	Right Atrium	heart

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