Variant report

Variant	rs12752148
Chromosome Location	chr1:146557073-146557074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:146555434-146557191	K562	blood:	n/a	n/a
2	POLR2A	chr1:146555467-146557086	K562	blood:	n/a	n/a
3	POLR2A	chr1:146555463-146557078	GM18505	blood:	n/a	n/a
4	POLR2A	chr1:146555655-146557083	K562	blood:	n/a	n/a
5	HEY1	chr1:146555551-146557164	K562	blood:	n/a	chr1:146556495-146556510
6	HEY1	chr1:146555085-146557466	K562	blood:	n/a	chr1:146556495-146556510
7	POLR2A	chr1:146555648-146557076	MCF10A-Er-Src	breast:	n/a	n/a
8	PML	chr1:146555570-146557176	K562	blood:	n/a	n/a
9	POLR2A	chr1:146555537-146557247	K562	blood:	n/a	n/a
10	POLR2A	chr1:146555298-146557243	MCF10A-Er-Src	breast:	n/a	n/a
11	MXI1	chr1:146555790-146557319	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr1:146555130-146557088	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr1:146555520-146557124	K562	blood:	n/a	n/a
14	TBP	chr1:146555441-146557157	K562	blood:	n/a	n/a
15	POLR2A	chr1:146555546-146557085	GM15510	blood:	n/a	n/a
16	POLR2A	chr1:146555354-146557241	GM12891	blood:	n/a	n/a
17	RCOR1	chr1:146555439-146557189	K562	blood:	n/a	n/a
18	MAX	chr1:146555664-146557164	K562	blood:	n/a	n/a
19	POLR2A	chr1:146555303-146557217	GM12892	blood:	n/a	n/a
20	POLR2A	chr1:146555413-146557161	K562	blood:	n/a	n/a
21	POLR2A	chr1:146555386-146557416	K562	blood:	n/a	n/a
22	POLR2A	chr1:146555549-146557136	K562	blood:	n/a	n/a
23	YY1	chr1:146556934-146557082	K562	blood:	n/a	n/a
24	PML	chr1:146555472-146557231	K562	blood:	n/a	chr1:146557191-146557199
25	E2F6	chr1:146555539-146557075	K562	blood:	n/a	chr1:146556662-146556677
26	POLR2A	chr1:146555452-146557142	K562	blood:	n/a	n/a

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:146555480..146557423-chr1:146582452..146585260,2	MCF-7	breast:
2	chr1:146555582..146557721-chr16:70906703..70908588,2	MCF-7	breast:
3	chr1:146556050..146557611-chr16:70910877..70913228,2	K562	blood:
4	chr1:146555308..146557751-chr1:146572492..146574636,3	MCF-7	breast:
5	chr1:146554717..146557790-chr1:146713275..146715735,7	MCF-7	breast:
6	chr1:146556597..146557184-chr15:59063588..59064562,2	Hela-S3	cervix:
7	chr1:146555657..146558762-chr1:146628491..146630489,3	K562	blood:
8	chr1:146554322..146557448-chr1:146695605..146698369,3	K562	blood:
9	chr1:146554504..146557399-chr1:146713775..146716499,4	MCF-7	breast:
10	chr1:146553836..146557884-chr1:146641755..146644199,5	MCF-7	breast:
11	chr1:146555745..146557403-chr7:75933099..75935893,2	MCF-7	breast:
12	chr1:146555458..146558111-chr16:71130666..71132660,2	K562	blood:
13	chr1:146555822..146557545-chr1:146680381..146682107,2	K562	blood:
14	chr1:146554548..146558121-chr1:149223419..149225403,4	MCF-7	breast:
15	chr1:146554384..146557759-chr1:149221710..149225398,8	K562	blood:
16	chr1:146554522..146557720-chr1:147805011..147808218,6	K562	blood:
17	chr1:146554412..146557592-chr1:149221795..149226039,8	K562	blood:
18	chr1:146556127..146557844-chr1:146621918..146623666,2	K562	blood:
19	chr1:146555785..146557578-chr1:146599828..146602177,2	MCF-7	breast:
20	chr1:146555833..146557676-chr1:146673742..146675974,2	K562	blood:
21	chr1:146555569..146557322-chr1:146680607..146682552,2	K562	blood:
22	chr1:146556287..146558878-chr1:146718178..146719701,2	K562	blood:
23	chr1:146550590..146559110-chr1:146711930..146718078,31	K562	blood:
24	chr1:146552515..146557737-chr1:146711619..146718083,31	K562	blood:
25	chr1:146554115..146557849-chr1:146637949..146646936,17	MCF-7	breast:
26	chr1:146555129..146557611-chr1:146720507..146722463,2	K562	blood:
27	chr1:144531278..144537146-chr1:146553717..146557612,11	K562	blood:
28	chr1:146556237..146558535-chr1:147070551..147072310,2	K562	blood:
29	chr1:146510544..146512904-chr1:146555893..146558120,2	K562	blood:
30	chr1:146502664..146505503-chr1:146555291..146557477,4	MCF-7	breast:
31	chr1:146554089..146558005-chr1:146638440..146645674,16	K562	blood:
32	chr1:146556283..146558041-chr16:71021213..71022835,2	K562	blood:
33	chr1:146555804..146557597-chr1:146578723..146581145,2	MCF-7	breast:
34	chr1:146554821..146557331-chr17:58468506..58470510,2	MCF-7	breast:
35	chr1:146554921..146557589-chr7:94462581..94464231,2	MCF-7	breast:
36	chr1:146555582..146557565-chr1:146708158..146710932,2	K562	blood:
37	chr1:146554089..146558005-chr1:146640920..146646223,16	K562	blood:
38	chr1:144532709..144537146-chr1:146553385..146558827,17	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230832	TF binding region
ENSG00000206737	Chromatin interaction
ENSG00000116128	Chromatin interaction
ENSG00000131781	Chromatin interaction
ENSG00000131791	Chromatin interaction
ENSG00000219807	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000131778	Chromatin interaction
ENSG00000170832	Chromatin interaction
ENSG00000273071	Chromatin interaction
ENSG00000237188	Chromatin interaction
ENSG00000141371	Chromatin interaction
ENSG00000223316	Chromatin interaction
ENSG00000202408	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12118734	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122092	1.00[ASN][1000 genomes]
rs12122100	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12124149	1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12126527	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127461	0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129419	0.84[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129691	1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141289	1.00[ASN][1000 genomes]
rs12142004	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12142005	1.00[ASN][1000 genomes]
rs12144262	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12723253	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12728300	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12733095	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12737860	0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12742539	1.00[ASN][1000 genomes]
rs12743228	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12745206	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34026136	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35605851	1.00[ASN][1000 genomes]
rs35811591	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61838895	1.00[ASN][1000 genomes]
rs61838896	1.00[ASN][1000 genomes]
rs6665411	0.84[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6681167	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6683436	1.00[ASN][1000 genomes]
rs6689542	1.00[ASN][1000 genomes]
rs71510558	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757753	chr1:145883119-146697542	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv872251	chr1:146152553-146803630	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv872252	chr1:146471863-147398135	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
4	nsv999546	chr1:146507577-147356574	Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
5	nsv535123	chr1:146507577-147356574	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
6	nsv492188	chr1:146507649-147381479	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
7	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
8	nsv547673	chr1:146510112-147398135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
9	nsv946298	chr1:146510432-146557539	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
10	nsv547674	chr1:146522722-147396797	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
11	nsv998341	chr1:146531446-147384720	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
12	nsv535124	chr1:146531446-147384720	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
13	nsv1003493	chr1:146531446-147389944	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
14	nsv998209	chr1:146543722-147384720	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
15	nsv535126	chr1:146543722-147384720	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
16	nsv872255	chr1:146550780-146969712	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
17	nsv872256	chr1:146556596-147410973	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146555000-146557200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:146555000-146557200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
3	chr1:146555200-146557200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:146555200-146557200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr1:146555200-146557400	Active TSS	HSMMtube	muscle
6	chr1:146555400-146557200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:146555400-146557200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr1:146555400-146557400	Bivalent/Poised TSS	A549	lung
9	chr1:146555400-146557400	Bivalent/Poised TSS	NHDF-Ad	bronchial
10	chr1:146555600-146557200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:146555600-146557200	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr1:146555600-146557200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
13	chr1:146555600-146557200	Active TSS	Hela-S3	cervix
14	chr1:146555600-146557400	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr1:146555600-146557400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:146555600-146557400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
17	chr1:146555600-146557400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr1:146555600-146557400	Active TSS	NH-A	brain
19	chr1:146555800-146557200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr1:146555800-146557200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr1:146555800-146557200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:146555800-146557200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:146555800-146557200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:146555800-146557200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:146555800-146557200	Active TSS	Brain Substantia Nigra	brain
26	chr1:146555800-146557200	Active TSS	Duodenum Mucosa	Duodenum
27	chr1:146555800-146557200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
28	chr1:146555800-146557200	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr1:146555800-146557200	Active TSS	Right Ventricle	heart
30	chr1:146555800-146557400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:146555800-146557400	Active TSS	Osteobl	bone
32	chr1:146556000-146557200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:146556000-146557200	Active TSS	Muscle Satellite Cultured Cells	--
34	chr1:146556000-146557200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:146556000-146557200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
36	chr1:146556000-146557200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
37	chr1:146556000-146557200	Active TSS	K562	blood
38	chr1:146556200-146557200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
39	chr1:146556400-146557200	Active TSS	Fetal Heart	heart
40	chr1:146556400-146557200	Active TSS	Rectal Smooth Muscle	rectum
41	chr1:146556600-146557200	Active TSS	Right Atrium	heart
42	chr1:146556600-146557600	Bivalent/Poised TSS	Thymus	Thymus
43	chr1:146556800-146557200	Bivalent/Poised TSS	Primary B cells from cord blood	blood
44	chr1:146556800-146557200	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
45	chr1:146556800-146557200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:146556800-146557200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
47	chr1:146556800-146557200	Bivalent/Poised TSS	Fetal Brain Female	brain
48	chr1:146556800-146557200	Flanking Active TSS	Fetal Lung	lung
49	chr1:146556800-146557200	Flanking Active TSS	Placenta	Placenta
50	chr1:146557000-146557200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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