Variant report

Variant	rs60218214
Chromosome Location	chr1:153522437-153522438
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr1:153521378-153522629	A549	lung:	n/a	chr1:153521951-153521961 chr1:153522535-153522543 chr1:153521951-153521961 chr1:153521951-153521961
2	MAX	chr1:153519483-153522520	A549	lung:	n/a	chr1:153520680-153520690
3	JUND	chr1:153521583-153522460	SK-N-SH	brain:	n/a	chr1:153521951-153521961 chr1:153521951-153521961 chr1:153521951-153521961
4	POLR2A	chr1:153521989-153522472	K562	blood:	n/a	n/a
5	MAZ	chr1:153520977-153522850	IMR90	lung:	n/a	n/a
6	POLR2A	chr1:153517452-153526571	MCF10A-Er-Src	breast:	n/a	n/a
7	TCF12	chr1:153521126-153522523	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:153522407-153522457	HNPCEpiC	eye:	n/a
2	chr1:153522407-153522457	NH-A	brain:	n/a
3	chr1:153522407-153522457	GM12892	blood:	n/a
4	chr1:153522407-153522457	IMR90	lung:	fetal
5	chr1:153522407-153522457	AG04449	skin:	fetal
6	chr1:153522407-153522457	HRCEpiC	kidney:	n/a
7	chr1:153522407-153522457	A549	lung:	n/a
8	chr1:153522407-153522457	Hepatocyte	liver:	n/a
9	chr1:153522407-153522457	Caco-2	colon:	n/a
10	chr1:153522407-153522457	K562	blood:	n/a
11	chr1:153522407-153522457	BE2_C	brain:	n/a
12	chr1:153522407-153522457	NB4	blood:	n/a
13	chr1:153522407-153522457	HCT-116	colon:	n/a
14	chr1:153522407-153522457	HEEpiC	esophagus:	n/a
15	chr1:153522407-153522457	AG04450	lung:	fetal
16	chr1:153522407-153522457	HCF	heart:	n/a
17	chr1:153522407-153522457	HRE	kidney:	n/a
18	chr1:153522407-153522457	ECC-1	luminal epithelium:	n/a
19	chr1:153522407-153522457	BJ	skin:	n/a
20	chr1:153522407-153522457	GM12891	blood:	n/a
21	chr1:153522407-153522457	SKMC	muscle:	n/a
22	chr1:153522407-153522457	AG09309	skin:	n/a
23	chr1:153522407-153522457	MCF10A-Er-Src	breast:	n/a
24	chr1:153522407-153522457	Jurkat	blood:	n/a
25	chr1:153522407-153522457	T-47D	breast:	n/a
26	chr1:153522407-153522457	NHDF-neo	bronchial:	n/a
27	chr1:153522407-153522457	AG09319	gingival:	n/a
28	chr1:153522407-153522457	Hela-S3	cervix:	n/a
29	chr1:153522407-153522457	SK-N-SH	brain:	n/a
30	chr1:153522407-153522457	CMK	blood:	n/a
31	chr1:153522407-153522457	AG10803	skin:	n/a
32	chr1:153522407-153522457	GM19239	blood:	n/a
33	chr1:153522407-153522457	PrEC	prostate:	n/a
34	chr1:153522407-153522457	GM06990	blood:	n/a
35	chr1:153522407-153522457	PANC-1	pancreas:	n/a
36	chr1:153522407-153522457	HRPEpiC	eye:	n/a
37	chr1:153522407-153522457	RPTEC	kidney:	n/a
38	chr1:153522407-153522457	U87	brain:	n/a
39	chr1:153522407-153522457	AoSMC	blood vessel:	n/a
40	chr1:153522407-153522457	HCPEpiC	choroid plexus:	n/a
41	chr1:153522407-153522457	HPAEpiC	pulmonary alveolar:	n/a
42	chr1:153522407-153522457	H1-hESC	embryonic stem cell:	embryo
43	chr1:153522407-153522457	HIPEpiC	eye:	n/a
44	chr1:153522407-153522457	HepG2	liver:	n/a
45	chr1:153522407-153522457	SAEC	small airway:	n/a
46	chr1:153522407-153522457	GM12878	blood:	n/a
47	chr1:153522407-153522457	HEK293	kidney:	embryo
48	chr1:153522407-153522457	HCM	heart:	n/a
49	chr1:153522407-153522457	HL-60	blood:	n/a
50	chr1:153522407-153522457	SK-N-MC	brain:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153508236..153509740-chr1:153522237..153524623,2	K562	blood:
2	chr1:153522267..153525133-chr1:153537337..153540137,3	MCF-7	breast:
3	chr1:153519212..153523090-chr1:153584863..153588698,4	MCF-7	breast:
4	chr1:153504382..153507280-chr1:153522086..153523762,2	K562	blood:

No data

Variant related genes	Relation type
S100A4	TF binding region
S100A3	TF binding region
S100A3	CpG island
S100A4	CpG island
ENSG00000188643	Chromatin interaction
ENSG00000238279	Chromatin interaction
ENSG00000197956	Chromatin interaction
ENSG00000196754	Chromatin interaction
ENSG00000189334	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1047325	0.91[EUR][1000 genomes]
rs1050923	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11488669	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16835437	0.91[EUR][1000 genomes]
rs16835455	0.91[EUR][1000 genomes]
rs1810765	0.82[EUR][1000 genomes]
rs28452456	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28548347	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28594230	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28689606	0.97[EUR][1000 genomes]
rs28718953	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36022742	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3762268	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41265162	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41265164	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4595398	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55955983	1.00[EUR][1000 genomes]
rs56043239	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56057245	0.84[EUR][1000 genomes]
rs56089062	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56350425	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56838169	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57024596	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58056804	0.97[EUR][1000 genomes]
rs58072118	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59376279	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60287468	0.97[EUR][1000 genomes]
rs60969679	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61265945	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61558997	0.91[EUR][1000 genomes]
rs6427301	1.00[EUR][1000 genomes]
rs6671398	0.94[EUR][1000 genomes]
rs6700310	0.91[EUR][1000 genomes]
rs73026350	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs74115473	0.97[EUR][1000 genomes]
rs74115476	0.97[EUR][1000 genomes]
rs743687	0.82[EUR][1000 genomes]
rs7535476	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8401	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases
5	nsv1007306	chr1:153413827-153541798	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153509400-153527600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:153515400-153522800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:153515400-153523000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:153517400-153524000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:153517600-153522800	Enhancers	Spleen	Spleen
6	chr1:153518000-153522600	Enhancers	Fetal Stomach	stomach
7	chr1:153518200-153523000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:153518200-153524000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:153518200-153524000	Enhancers	K562	blood
10	chr1:153518400-153522800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:153518400-153523800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:153518600-153522800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:153518600-153523600	Enhancers	Fetal Thymus	thymus
14	chr1:153518600-153524000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:153518600-153524000	Enhancers	Placenta	Placenta
16	chr1:153518600-153524200	Enhancers	Lung	lung
17	chr1:153518800-153523200	Enhancers	Right Atrium	heart
18	chr1:153518800-153524200	Enhancers	Esophagus	oesophagus
19	chr1:153519000-153522800	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr1:153519000-153524400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:153519200-153523400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr1:153519200-153524000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:153519200-153524200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:153519200-153524400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr1:153519400-153522800	Enhancers	NHLF	lung
26	chr1:153519400-153523400	Enhancers	Placenta Amnion	Placenta Amnion
27	chr1:153519400-153523600	Enhancers	Fetal Muscle Leg	muscle
28	chr1:153519400-153526000	Weak transcription	Aorta	Aorta
29	chr1:153519600-153523000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:153519800-153523600	Enhancers	Fetal Muscle Trunk	muscle
31	chr1:153520000-153523600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr1:153520000-153529400	Genic enhancers	HMEC	breast
33	chr1:153520200-153524200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:153520400-153522600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:153520400-153524200	Enhancers	Adipose Nuclei	Adipose
36	chr1:153520600-153522600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr1:153520800-153522600	Enhancers	Colonic Mucosa	Colon
38	chr1:153520800-153522800	Enhancers	Right Ventricle	heart
39	chr1:153520800-153523200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:153520800-153523200	Enhancers	Left Ventricle	heart
41	chr1:153521000-153522600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:153521000-153522600	Enhancers	HUVEC	blood vessel
43	chr1:153521000-153522600	Enhancers	NH-A	brain
44	chr1:153521000-153522800	Enhancers	HSMMtube	muscle
45	chr1:153521000-153523600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:153521200-153522600	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr1:153521200-153523400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr1:153521200-153524000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr1:153521400-153522600	Enhancers	Pancreas	Pancrea
50	chr1:153521400-153522800	Enhancers	Colon Smooth Muscle	Colon

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