Variant report

Variant	rs41314256
Chromosome Location	chr1:212738603-212738604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr1:212738581-212738736	MCF10A-Er-Src	breast:	n/a	chr1:212738625-212738634
2	JUN	chr1:212738098-212738909	K562	blood:	n/a	chr1:212738625-212738634
3	JUND	chr1:212738562-212738718	HepG2	liver:	n/a	chr1:212738607-212738618 chr1:212738625-212738634
4	RUNX3	chr1:212738386-212738842	GM12878	blood:	n/a	n/a
5	FOS	chr1:212738581-212738714	MCF10A-Er-Src	breast:	n/a	chr1:212738625-212738634
6	JUND	chr1:212738587-212738663	K562	blood:	n/a	chr1:212738607-212738618 chr1:212738625-212738634

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:212738603-212738653	BE2_C	brain:	n/a
2	chr1:212738603-212738653	LNCaP	prostate:	n/a
3	chr1:212738603-212738653	HAEpiC	amniotic membrane:	n/a
4	chr1:212738603-212738653	AG09309	skin:	n/a
5	chr1:212738603-212738653	Jurkat	blood:	n/a
6	chr1:212738603-212738653	GM12892	blood:	n/a
7	chr1:212738603-212738653	HRCEpiC	kidney:	n/a
8	chr1:212738603-212738653	SK-N-MC	brain:	n/a
9	chr1:212738603-212738653	HRE	kidney:	n/a
10	chr1:212738603-212738653	HUVEC	blood vessel:	n/a
11	chr1:212738603-212738653	H1-hESC	embryonic stem cell:	embryo
12	chr1:212738603-212738653	ProgFib	skin:	n/a
13	chr1:212738603-212738653	AG09319	gingival:	n/a
14	chr1:212738603-212738653	GM06990	blood:	n/a
15	chr1:212738603-212738653	IMR90	lung:	fetal
16	chr1:212738603-212738653	SAEC	small airway:	n/a
17	chr1:212738603-212738653	U87	brain:	n/a
18	chr1:212738603-212738653	HPAEpiC	pulmonary alveolar:	n/a
19	chr1:212738603-212738653	HEK293	kidney:	embryo
20	chr1:212738603-212738653	HIPEpiC	eye:	n/a
21	chr1:212738603-212738653	SK-N-SH_RA	brain:	n/a
22	chr1:212738603-212738653	Hepatocyte	liver:	n/a
23	chr1:212738603-212738653	AG04449	skin:	fetal
24	chr1:212738603-212738653	Caco-2	colon:	n/a
25	chr1:212738603-212738653	AG04450	lung:	fetal
26	chr1:212738603-212738653	NHBE	bronchial:	n/a
27	chr1:212738603-212738653	NB4	blood:	n/a
28	chr1:212738603-212738653	HEEpiC	esophagus:	n/a
29	chr1:212738603-212738653	AG10803	skin:	n/a
30	chr1:212738603-212738653	PrEC	prostate:	n/a
31	chr1:212738603-212738653	GM19239	blood:	n/a
32	chr1:212738603-212738653	MCF10A-Er-Src	breast:	n/a
33	chr1:212738603-212738653	RPTEC	kidney:	n/a
34	chr1:212738603-212738653	Hela-S3	cervix:	n/a
35	chr1:212738603-212738653	HCM	heart:	n/a
36	chr1:212738603-212738653	A549	lung:	n/a
37	chr1:212738603-212738653	HCT-116	colon:	n/a
38	chr1:212738603-212738653	PANC-1	pancreas:	n/a
39	chr1:212738603-212738653	NT2-D1	testis:	n/a
40	chr1:212738603-212738653	T-47D	breast:	n/a
41	chr1:212738603-212738653	HMEC	breast:	n/a
42	chr1:212738603-212738653	NH-A	brain:	n/a
43	chr1:212738603-212738653	AoSMC	blood vessel:	n/a
44	chr1:212738603-212738653	K562	blood:	n/a
45	chr1:212738603-212738653	ECC-1	luminal epithelium:	n/a
46	chr1:212738603-212738653	CMK	blood:	n/a
47	chr1:212738603-212738653	BJ	skin:	n/a
48	chr1:212738603-212738653	HNPCEpiC	eye:	n/a
49	chr1:212738603-212738653	ovcar-3	ovarian:	n/a
50	chr1:212738603-212738653	SKMC	muscle:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212729491..212744666-chr1:212778733..212791648,68	K562	blood:
2	chr1:212729172..212744062-chr1:212776412..212791648,77	K562	blood:

No data

Variant related genes	Relation type
ATF3	TF binding region
ATF3	CpG island
ENSG00000264590	Chromatin interaction
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10157307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11804839	1.00[ASN][1000 genomes]
rs11811628	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062234	1.00[ASN][1000 genomes]
rs12067814	1.00[ASN][1000 genomes]
rs12073991	1.00[ASN][1000 genomes]
rs12738431	1.00[ASN][1000 genomes]
rs12739468	1.00[ASN][1000 genomes]
rs13374814	1.00[ASN][1000 genomes]
rs17019384	1.00[ASN][1000 genomes]
rs28526731	1.00[ASN][1000 genomes]
rs34004542	1.00[ASN][1000 genomes]
rs34799814	1.00[ASN][1000 genomes]
rs35432717	1.00[ASN][1000 genomes]
rs36061296	1.00[ASN][1000 genomes]
rs56862824	1.00[ASN][1000 genomes]
rs57377970	1.00[ASN][1000 genomes]
rs57847431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58338531	1.00[ASN][1000 genomes]
rs58752775	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58876418	1.00[ASN][1000 genomes]
rs59261419	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59344104	1.00[ASN][1000 genomes]
rs59408650	1.00[ASN][1000 genomes]
rs60399349	1.00[ASN][1000 genomes]
rs60521851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61450816	1.00[ASN][1000 genomes]
rs61526449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66534834	1.00[ASN][1000 genomes]
rs66611603	1.00[ASN][1000 genomes]
rs6694503	1.00[ASN][1000 genomes]
rs6697091	1.00[ASN][1000 genomes]
rs67410757	1.00[ASN][1000 genomes]
rs67529467	1.00[ASN][1000 genomes]
rs67770348	1.00[ASN][1000 genomes]
rs68028120	1.00[ASN][1000 genomes]
rs68047079	1.00[ASN][1000 genomes]
rs72752396	1.00[ASN][1000 genomes]
rs72754304	1.00[ASN][1000 genomes]
rs72754308	1.00[ASN][1000 genomes]
rs72754311	1.00[ASN][1000 genomes]
rs72754313	1.00[ASN][1000 genomes]
rs72754324	1.00[ASN][1000 genomes]
rs72754335	1.00[ASN][1000 genomes]
rs72754344	1.00[ASN][1000 genomes]
rs72754346	1.00[ASN][1000 genomes]
rs72754358	1.00[ASN][1000 genomes]
rs72754374	1.00[ASN][1000 genomes]
rs72754375	1.00[ASN][1000 genomes]
rs72754384	1.00[ASN][1000 genomes]
rs72756307	1.00[ASN][1000 genomes]
rs72756315	1.00[ASN][1000 genomes]
rs72756328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72756330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72756331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72756332	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72756334	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72756335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72756337	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72756339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72756341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72756342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72756347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72756348	1.00[ASN][1000 genomes]
rs73073999	1.00[ASN][1000 genomes]
rs73088569	1.00[ASN][1000 genomes]
rs74138382	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7512515	1.00[ASN][1000 genomes]
rs7524087	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212732800-212739600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:212732800-212739600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:212732800-212739800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:212732800-212739800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:212732800-212739800	Weak transcription	Stomach Mucosa	stomach
6	chr1:212732800-212740000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:212733000-212739600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:212733000-212739600	Weak transcription	Adipose Nuclei	Adipose
9	chr1:212733000-212739800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:212733000-212739800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:212733000-212740600	Weak transcription	Fetal Heart	heart
12	chr1:212733200-212739600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:212734400-212740000	Weak transcription	Aorta	Aorta
14	chr1:212735000-212739800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:212735200-212738800	Weak transcription	NHLF	lung
16	chr1:212735200-212739800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:212735200-212739800	Weak transcription	Left Ventricle	heart
18	chr1:212735200-212740000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:212735200-212740000	Weak transcription	Right Atrium	heart
20	chr1:212735400-212740000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:212735600-212739200	Weak transcription	HUVEC	blood vessel
22	chr1:212735600-212739600	Weak transcription	HSMM	muscle
23	chr1:212735600-212739800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:212735600-212739800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:212735600-212739800	Weak transcription	NH-A	brain
26	chr1:212735800-212739800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:212736400-212739800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:212738000-212739600	Enhancers	Hela-S3	cervix
29	chr1:212738000-212740000	Enhancers	Placenta	Placenta
30	chr1:212738200-212739600	Enhancers	GM12878-XiMat	blood
31	chr1:212738400-212739000	Enhancers	HSMMtube	muscle
32	chr1:212738600-212739800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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