Variant report

Variant	rs7507018
Chromosome Location	chr18:12701937-12701938
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr18:12701448-12702042	K562	blood:	n/a	n/a
2	UBTF	chr18:12701783-12703494	K562	blood:	n/a	n/a
3	POLR2A	chr18:12701930-12703285	HepG2	liver:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12677577..12680065-chr18:12699898..12703044,3	K562	blood:
2	chr18:12375309..12380137-chr18:12701387..12704274,11	K562	blood:
3	chr18:12701407..12705081-chr18:12945993..12949483,5	MCF-7	breast:
4	chr18:12696763..12699239-chr18:12701108..12704411,4	MCF-7	breast:
5	chr18:12701267..12703413-chr18:12991110..12994892,3	K562	blood:
6	chr18:12700812..12705381-chr18:12946243..12950219,9	K562	blood:
7	chr18:12701527..12703834-chr18:12990213..12992610,2	K562	blood:
8	chr18:12699667..12702594-chr18:12881299..12884281,3	K562	blood:
9	chr18:12689483..12696263-chr18:12698961..12704404,9	MCF-7	breast:
10	chr18:12701153..12703264-chr18:13056468..13058902,2	K562	blood:
11	chr18:12375314..12379217-chr18:12700733..12704866,11	K562	blood:
12	chr18:12700182..12704223-chr18:12944670..12949511,9	K562	blood:
13	chr18:12701070..12703137-chr18:12990557..12992522,2	MCF-7	breast:
14	chr18:12307184..12308743-chr18:12701040..12703824,2	K562	blood:
15	chr18:12306506..12308836-chr18:12701681..12703824,3	K562	blood:
16	chr18:12657668..12659639-chr18:12701302..12703566,3	MCF-7	breast:
17	chr18:12656018..12659900-chr18:12701056..12705601,5	K562	blood:
18	chr18:12685127..12688617-chr18:12697968..12702228,5	MCF-7	breast:

No data

Variant related genes	Relation type
PSMG2	TF binding region
CEP76	TF binding region
ENSG00000085415	Chromatin interaction
ENSG00000141385	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000101624	Chromatin interaction
ENSG00000175354	Chromatin interaction
ENSG00000101639	Chromatin interaction
ENSG00000134278	Chromatin interaction
ENSG00000215527	Chromatin interaction
ENSG00000266969	Chromatin interaction
ENSG00000176014	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs1062235	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11080592	0.82[ASN][1000 genomes]
rs1129214	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12373207	0.90[ASN][1000 genomes]
rs12373259	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12455268	0.92[ASN][1000 genomes]
rs12455295	0.92[ASN][1000 genomes]
rs12457771	0.92[ASN][1000 genomes]
rs12458097	0.92[ASN][1000 genomes]
rs12458895	0.91[ASN][1000 genomes]
rs12954079	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12957555	0.92[ASN][1000 genomes]
rs12957603	0.92[ASN][1000 genomes]
rs12957810	0.92[ASN][1000 genomes]
rs12960623	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12960997	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12962598	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12963505	0.92[ASN][1000 genomes]
rs12964507	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12965733	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12965990	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12966246	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12966367	0.92[ASN][1000 genomes]
rs12966424	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12968771	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12969300	0.92[ASN][1000 genomes]
rs12969446	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12969938	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12971256	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1362709	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1549011	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1592642	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1592643	0.94[ASN][1000 genomes]
rs17616402	0.92[ASN][1000 genomes]
rs1971702	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2011575	0.92[ASN][1000 genomes]
rs2011579	0.92[ASN][1000 genomes]
rs2051262	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2302768	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28820339	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28832066	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34040888	0.89[ASN][1000 genomes]
rs34120824	0.92[ASN][1000 genomes]
rs34277169	0.92[ASN][1000 genomes]
rs34537593	0.89[ASN][1000 genomes]
rs34632667	0.91[ASN][1000 genomes]
rs34847769	0.91[ASN][1000 genomes]
rs35322088	0.91[ASN][1000 genomes]
rs35506854	0.92[ASN][1000 genomes]
rs35634465	0.85[ASN][1000 genomes]
rs35699948	0.92[ASN][1000 genomes]
rs35898717	0.89[ASN][1000 genomes]
rs3809919	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3902981	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4073592	0.83[EUR][1000 genomes]
rs4296322	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs45589535	0.92[ASN][1000 genomes]
rs45596833	0.92[ASN][1000 genomes]
rs4633785	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55870255	0.92[ASN][1000 genomes]
rs62095975	0.92[ASN][1000 genomes]
rs62096023	0.92[ASN][1000 genomes]
rs62096046	0.89[ASN][1000 genomes]
rs62096048	0.86[ASN][1000 genomes]
rs6505760	0.94[ASN][1000 genomes]
rs66808227	0.92[ASN][1000 genomes]
rs7233175	0.91[ASN][1000 genomes]
rs7233694	0.92[ASN][1000 genomes]
rs8083182	0.92[ASN][1000 genomes]
rs8083217	0.88[ASN][1000 genomes]
rs8086099	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs8086265	0.92[ASN][1000 genomes]
rs8097134	0.94[ASN][1000 genomes]
rs9303774	0.99[ASN][1000 genomes]
rs9303775	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9303776	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs933600	0.92[ASN][1000 genomes]
rs948319	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs963920	0.91[ASN][1000 genomes]
rs9945140	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9945644	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9945801	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9948844	0.83[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs9949293	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9950365	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9951576	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9952000	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9954112	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9955985	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9957880	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9958100	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9958412	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9959039	0.92[ASN][1000 genomes]
rs9959458	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9959536	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9959611	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9960555	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9961799	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9962006	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9963809	0.94[ASN][1000 genomes]
rs9964868	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9966464	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9966490	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9966672	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9967437	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9967553	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv1820040	chr18:12635601-12725236	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv1817845	chr18:12635601-12733705	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	esv1821625	chr18:12635601-12733705	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
10	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
11	nsv1064273	chr18:12697601-12828251	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7507018	SPIRE1	cis	Muscle Skeletal	GTEx
rs7507018	RP11-861E21.2	cis	Muscle Skeletal	GTEx
rs7507018	CEP76	cis	Stomach	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12700800-12702000	Enhancers	Fetal Brain Male	brain
2	chr18:12701000-12702000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
3	chr18:12701000-12702000	Flanking Active TSS	NHEK	skin
4	chr18:12701000-12703800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr18:12701200-12702000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr18:12701200-12702000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr18:12701200-12702000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr18:12701200-12702000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr18:12701200-12702000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr18:12701200-12702000	Flanking Active TSS	Thymus	Thymus
11	chr18:12701200-12702200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr18:12701200-12702200	Active TSS	HepG2	liver
13	chr18:12701200-12704000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr18:12701200-12704000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr18:12701200-12704000	Active TSS	NHDF-Ad	bronchial
16	chr18:12701200-12704400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr18:12701400-12702000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr18:12701400-12702000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr18:12701400-12702000	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr18:12701400-12702000	Flanking Active TSS	Liver	Liver
21	chr18:12701400-12702000	Flanking Active TSS	Brain Angular Gyrus	brain
22	chr18:12701400-12702000	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr18:12701400-12702000	Flanking Active TSS	Brain Substantia Nigra	brain
24	chr18:12701400-12702000	Flanking Active TSS	Colon Smooth Muscle	Colon
25	chr18:12701400-12702000	Flanking Active TSS	Fetal Intestine Small	intestine
26	chr18:12701400-12702000	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr18:12701400-12702000	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr18:12701400-12702200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr18:12701400-12702200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr18:12701400-12702200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr18:12701400-12702200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr18:12701400-12702200	Active TSS	Right Atrium	heart
33	chr18:12701400-12702400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr18:12701400-12703800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr18:12701400-12703800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr18:12701400-12703800	Active TSS	Colonic Mucosa	Colon
37	chr18:12701400-12703800	Active TSS	Fetal Intestine Large	intestine
38	chr18:12701400-12703800	Active TSS	NH-A	brain
39	chr18:12701400-12704000	Active TSS	H9 Cell Line	embryonic stem cell
40	chr18:12701400-12704000	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr18:12701600-12702000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr18:12701600-12702000	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr18:12701600-12702000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr18:12701600-12702000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr18:12701600-12702000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr18:12701600-12702000	Flanking Active TSS	Fetal Heart	heart
47	chr18:12701600-12702000	Flanking Active TSS	Fetal Lung	lung
48	chr18:12701600-12702000	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr18:12701600-12702000	Flanking Active TSS	Fetal Stomach	stomach
50	chr18:12701600-12702000	Flanking Active TSS	Fetal Thymus	thymus

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