Variant report

Variant	rs72942037
Chromosome Location	chr1:84767044-84767045
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:84766940-84767552	HCT-116	colon:	n/a	n/a
2	YY1	chr1:84767024-84767520	ECC-1	luminal epithelium:	n/a	n/a
3	MAX	chr1:84767004-84767468	SK-N-SH	brain:	n/a	n/a
4	YY1	chr1:84766975-84767480	SK-N-SH_RA	brain:	n/a	n/a
5	GATA3	chr1:84767005-84769031	SK-N-SH	brain:	n/a	chr1:84768512-84768522
6	REST	chr1:84766561-84769136	H1-neurons	neurons:	n/a	n/a
7	SP1	chr1:84766961-84767500	A549	lung:	n/a	n/a
8	ZNF143	chr1:84766925-84767166	K562	blood:	n/a	n/a
9	YY1	chr1:84767025-84767480	A549	lung:	n/a	n/a
10	YY1	chr1:84766932-84767457	SK-N-SH_RA	brain:	n/a	n/a
11	YY1	chr1:84767030-84767458	GM12878	blood:	n/a	n/a
12	MYC	chr1:84767018-84767665	K562	blood:	n/a	n/a
13	POLR2A	chr1:84767000-84767961	HCT-116	colon:	n/a	n/a
14	YY1	chr1:84767023-84767519	ECC-1	luminal epithelium:	n/a	n/a
15	YY1	chr1:84766753-84767657	SK-N-SH	brain:	n/a	n/a
16	BHLHE40	chr1:84766974-84767464	K562	blood:	n/a	n/a
17	POLR2A	chr1:84766852-84768905	H1-neurons	neurons:	n/a	n/a
18	MAX	chr1:84766940-84767654	NB4	blood:	n/a	n/a
19	MAX	chr1:84766983-84767537	ECC-1	luminal epithelium:	n/a	n/a
20	SP1	chr1:84766822-84767668	HCT-116	colon:	n/a	n/a
21	POLR2A	chr1:84766926-84767622	SK-N-MC	brain:	n/a	n/a
22	MAFK	chr1:84767038-84767376	K562	blood:	n/a	n/a
23	YY1	chr1:84767040-84767475	GM12891	blood:	n/a	n/a
24	POLR2A	chr1:84766789-84768987	Raji	blood:	n/a	n/a
25	EP300	chr1:84767035-84767718	K562	blood:	n/a	chr1:84767040-84767049
26	RCOR1	chr1:84766989-84767467	K562	blood:	n/a	n/a
27	NFIC	chr1:84766993-84767649	ECC-1	luminal epithelium:	n/a	n/a
28	NFIC	chr1:84766896-84767710	ECC-1	luminal epithelium:	n/a	n/a
29	CBX3	chr1:84766928-84767639	HCT-116	colon:	n/a	n/a
30	POLR2A	chr1:84766816-84768809	H1-neurons	neurons:	n/a	n/a
31	NFIC	chr1:84766426-84767906	SK-N-SH	brain:	n/a	chr1:84766751-84766767 chr1:84766749-84766777
32	YY1	chr1:84767011-84767612	SK-N-SH	brain:	n/a	n/a
33	SP1	chr1:84766886-84767669	HCT-116	colon:	n/a	n/a
34	MAX	chr1:84766985-84767495	SK-N-SH	brain:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:84765808..84767323-chr1:84944913..84947326,2	K562	blood:
2	chr1:84763327..84765739-chr1:84765755..84771723,8	K562	blood:
3	chr1:84765283..84767308-chr1:84944913..84946542,2	K562	blood:

No data

Variant related genes	Relation type
SAMD13	TF binding region
ENSG00000203943	Chromatin interaction
ENSG00000117133	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1085093	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125649	1.00[ASN][1000 genomes]
rs12135562	1.00[ASN][1000 genomes]
rs12142220	1.00[ASN][1000 genomes]
rs1246574	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316636	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316641	1.00[ASN][1000 genomes]
rs316689	1.00[ASN][1000 genomes]
rs784828	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs784830	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs784831	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs813056	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs868612	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830414	chr1:84636738-84824651	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv830426	chr1:84704924-84856229	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84763200-84769400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:84764800-84770200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:84765200-84767200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:84765200-84767200	Enhancers	Fetal Thymus	thymus
5	chr1:84765200-84767200	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr1:84765200-84767800	Weak transcription	Left Ventricle	heart
7	chr1:84765200-84768200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:84765200-84768200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:84765400-84767400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:84765400-84767400	Enhancers	Hela-S3	cervix
11	chr1:84765400-84767600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:84765400-84768000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:84765400-84768200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:84765400-84768200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:84765400-84768200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:84765400-84768200	Enhancers	Fetal Lung	lung
17	chr1:84765400-84768400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr1:84765600-84768400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:84765600-84769000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr1:84765800-84767200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:84765800-84767400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:84765800-84767800	Weak transcription	Colonic Mucosa	Colon
23	chr1:84765800-84768200	Weak transcription	Pancreas	Pancrea
24	chr1:84766000-84767200	Enhancers	Small Intestine	intestine
25	chr1:84766000-84767400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr1:84766000-84768200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr1:84766200-84767200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr1:84766200-84767400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:84766200-84768400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:84766400-84767200	Flanking Active TSS	A549	lung
31	chr1:84766400-84767400	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr1:84766400-84767400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr1:84766400-84767400	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr1:84766400-84767400	Flanking Active TSS	NHLF	lung
35	chr1:84766400-84768200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:84766400-84768600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:84766400-84769200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr1:84766400-84769200	Flanking Active TSS	Dnd41	blood
39	chr1:84766400-84769800	Flanking Active TSS	HUVEC	blood vessel
40	chr1:84766400-84770000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:84766600-84767200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr1:84766600-84767200	Flanking Active TSS	Stomach Mucosa	stomach
43	chr1:84766600-84767400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:84766600-84767400	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr1:84766600-84767400	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr1:84766600-84767400	Flanking Active TSS	Rectal Smooth Muscle	rectum
47	chr1:84766600-84768400	Active TSS	Aorta	Aorta
48	chr1:84766600-84769200	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr1:84766600-84769200	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr1:84766600-84769200	Active TSS	Fetal Muscle Trunk	muscle

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