Variant report

Variant	rs56046470
Chromosome Location	chr18:9137581-9137582
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr18:9135875-9137655	HepG2	liver:	n/a	chr18:9137372-9137383 chr18:9136382-9136392 chr18:9136283-9136297 chr18:9136651-9136665 chr18:9136242-9136251 chr18:9136607-9136616 chr18:9137368-9137379 chr18:9136188-9136202 chr18:9137382-9137404 chr18:9137379-9137393 chr18:9136614-9136625 chr18:9137359-9137370 chr18:9137394-9137404 chr18:9136381-9136393
2	POLR2A	chr18:9135417-9138100	MCF10A-Er-Src	breast:	n/a	n/a
3	MAX	chr18:9136256-9137891	SK-N-SH	brain:	n/a	n/a
4	ELF1	chr18:9135819-9137771	GM12878	blood:	n/a	chr18:9136176-9136188 chr18:9137621-9137632 chr18:9136190-9136202 chr18:9136245-9136254
5	MXI1	chr18:9135500-9138250	IMR90	lung:	n/a	n/a
6	MAX	chr18:9135786-9137614	H1-hESC	embryonic stem cell:	n/a	chr18:9136179-9136189
7	TAF1	chr18:9136070-9137615	HepG2	liver:	n/a	n/a
8	YY1	chr18:9135965-9137659	GM12892	blood:	n/a	chr18:9137372-9137383 chr18:9136382-9136392 chr18:9136283-9136297 chr18:9136651-9136665 chr18:9136242-9136251 chr18:9136607-9136616 chr18:9137368-9137379 chr18:9136188-9136202 chr18:9137382-9137404 chr18:9137379-9137393 chr18:9136614-9136625 chr18:9137359-9137370 chr18:9137394-9137404 chr18:9136381-9136393
9	PAX5	chr18:9136017-9137645	GM12892	blood:	n/a	chr18:9136633-9136651 chr18:9136632-9136651
10	POLR2A	chr18:9135689-9137843	Hela-S3	cervix:	n/a	n/a
11	CREB1	chr18:9137306-9138134	GM12878	blood:	n/a	n/a
12	POLR2A	chr18:9135733-9137922	GM19193	blood:	n/a	n/a
13	MXI1	chr18:9137373-9138012	Hela-S3	cervix:	n/a	n/a
14	BCLAF1	chr18:9137310-9138220	GM12878	blood:	n/a	chr18:9137453-9137466
15	YY1	chr18:9137293-9137593	GM12891	blood:	n/a	chr18:9137372-9137383 chr18:9137368-9137379 chr18:9137382-9137404 chr18:9137379-9137393 chr18:9137359-9137370 chr18:9137394-9137404
16	NRF1	chr18:9136182-9138169	SK-N-SH	brain:	n/a	n/a
17	MAX	chr18:9135763-9137991	GM12878	blood:	n/a	chr18:9136179-9136189
18	FOXM1	chr18:9137493-9137889	GM12878	blood:	n/a	n/a
19	POLR2A	chr18:9135771-9138048	Hela-S3	cervix:	n/a	n/a
20	EBF1	chr18:9137493-9137765	GM12878	blood:	n/a	n/a
21	E2F4	chr18:9135926-9137675	K562	blood:	n/a	chr18:9136243-9136253 chr18:9136770-9136779 chr18:9136638-9136649 chr18:9137376-9137386 chr18:9137032-9137042 chr18:9136468-9136478 chr18:9136639-9136651
22	MAZ	chr18:9135799-9137994	Hela-S3	cervix:	n/a	chr18:9136179-9136189
23	NFIC	chr18:9137480-9137976	GM12878	blood:	n/a	n/a
24	TAF1	chr18:9137469-9137713	GM12891	blood:	n/a	n/a
25	UBTF	chr18:9137362-9137959	K562	blood:	n/a	n/a
26	POLR2A	chr18:9135687-9138123	GM12878	blood:	n/a	n/a
27	MAZ	chr18:9135473-9138318	IMR90	lung:	n/a	chr18:9136179-9136189
28	TAF1	chr18:9137310-9137666	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr18:9136338-9137590	A549	lung:	n/a	n/a
30	PML	chr18:9137305-9138243	GM12878	blood:	n/a	n/a
31	MAX	chr18:9135677-9137989	A549	lung:	n/a	chr18:9136179-9136189
32	UBTF	chr18:9135664-9138104	K562	blood:	n/a	n/a
33	TAF1	chr18:9137455-9137753	GM12891	blood:	n/a	n/a
34	SIN3AK20	chr18:9135711-9137778	PANC-1	pancreas:	n/a	n/a
35	MAX	chr18:9135684-9137665	ECC-1	luminal epithelium:	n/a	chr18:9136179-9136189
36	POLR2A	chr18:9135723-9138141	ProgFib	skin:	n/a	n/a
37	YY1	chr18:9137028-9137899	GM12878	blood:	n/a	chr18:9137372-9137383 chr18:9137368-9137379 chr18:9137382-9137404 chr18:9137379-9137393 chr18:9137359-9137370 chr18:9137394-9137404
38	MAX	chr18:9135714-9138074	K562	blood:	n/a	chr18:9136179-9136189
39	SIN3AK20	chr18:9135694-9138194	MCF-7	breast:	n/a	n/a
40	POLR2A	chr18:9135739-9137878	GM12878	blood:	n/a	n/a
41	YY1	chr18:9135908-9137637	K562	blood:	n/a	chr18:9137372-9137383 chr18:9136382-9136392 chr18:9136283-9136297 chr18:9136651-9136665 chr18:9136242-9136251 chr18:9136607-9136616 chr18:9137368-9137379 chr18:9136188-9136202 chr18:9137382-9137404 chr18:9137379-9137393 chr18:9136614-9136625 chr18:9137359-9137370 chr18:9137394-9137404 chr18:9136381-9136393
42	YY1	chr18:9137297-9137628	ECC-1	luminal epithelium:	n/a	chr18:9137372-9137383 chr18:9137368-9137379 chr18:9137382-9137404 chr18:9137379-9137393 chr18:9137359-9137370 chr18:9137394-9137404
43	POLR2A	chr18:9135767-9137731	HepG2	liver:	n/a	n/a
44	POLR2A	chr18:9135684-9138135	GM12878	blood:	n/a	n/a
45	POLR2A	chr18:9136336-9137619	A549	lung:	n/a	n/a
46	REST	chr18:9135621-9138238	H1-neurons	neurons:	n/a	chr18:9135897-9135904 chr18:9136789-9136802 chr18:9135645-9135653 chr18:9136786-9136793 chr18:9136664-9136677 chr18:9136450-9136463
47	POLR2A	chr18:9137511-9138089	U87	brain:	n/a	n/a
48	POLR2A	chr18:9135605-9137758	K562	blood:	n/a	n/a
49	POLR2A	chr18:9137298-9138352	GM12878	blood:	n/a	n/a
50	POLR2A	chr18:9135570-9137799	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:9137564..9140546-chr18:9188464..9190895,2	MCF-7	breast:
2	chr18:9135476..9138567-chr18:9475319..9477627,4	K562	blood:
3	chr18:9100897..9104416-chr18:9134561..9139326,10	MCF-7	breast:
4	chr18:9100057..9106592-chr18:9133189..9143801,32	K562	blood:
5	chr1:166808283..166808793-chr18:9137108..9137608,2	Hela-S3	cervix:
6	chr18:9116916..9118754-chr18:9136071..9139010,3	K562	blood:
7	chr18:8704166..8706937-chr18:9136436..9139051,3	MCF-7	breast:
8	chr18:9018098..9020147-chr18:9136029..9138091,2	K562	blood:
9	chr18:9099316..9108402-chr18:9132066..9139576,22	K562	blood:
10	chr18:9113884..9116180-chr18:9136154..9138641,4	K562	blood:
11	chr18:9100237..9107287-chr18:9132588..9139279,23	MCF-7	breast:
12	chr1:149857838..149858809-chr18:9136877..9137598,2	Hela-S3	cervix:
13	chr18:9137078..9139236-chr18:9332503..9334760,2	K562	blood:
14	chr18:9136777..9139021-chr18:9215479..9217327,2	K562	blood:

Variant related genes	Relation type
ENSG00000266053	TF binding region
ENSG00000184678	Chromatin interaction
ENSG00000178127	Chromatin interaction
ENSG00000168502	Chromatin interaction
ENSG00000143157	Chromatin interaction
ENSG00000101745	Chromatin interaction
ENSG00000264964	Chromatin interaction
ENSG00000017797	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000265257	Chromatin interaction
ENSG00000263847	Chromatin interaction
ENSG00000242058	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11661711	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12607307	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1472944	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4078337	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4148966	0.89[ASN][1000 genomes]
rs4148967	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4797356	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4798772	0.90[ASN][1000 genomes]
rs4798776	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4798778	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6417048	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7504137	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7504603	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7505120	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs977581	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9945360	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9947027	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9952006	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9966631	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv909364	chr18:9114096-9186684	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv543641	chr18:9120450-9181498	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv543642	chr18:9133164-9191739	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv3396257	chr18:9135852-9138500	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9134800-9137800	Active TSS	Fetal Brain Female	brain
2	chr18:9135000-9139200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr18:9135200-9137800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr18:9135200-9138000	Active TSS	H1 Cell Line	embryonic stem cell
5	chr18:9135200-9138200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:9135200-9138200	Active TSS	Spleen	Spleen
7	chr18:9135200-9138400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr18:9135200-9138400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr18:9135400-9138000	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr18:9135400-9138200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr18:9135400-9139000	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr18:9135400-9140200	Active TSS	Psoas Muscle	Psoas
13	chr18:9135600-9137800	Active TSS	Brain Germinal Matrix	brain
14	chr18:9135600-9138000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr18:9135600-9138000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr18:9135600-9138000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:9135600-9138200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr18:9135600-9138400	Active TSS	Esophagus	oesophagus
19	chr18:9135600-9138800	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr18:9135600-9139000	Active TSS	A549	lung
21	chr18:9135600-9140000	Active TSS	Right Ventricle	heart
22	chr18:9135600-9140200	Active TSS	NHDF-Ad	bronchial
23	chr18:9135800-9138000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr18:9135800-9138200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr18:9135800-9138200	Active TSS	Placenta Amnion	Placenta Amnion
26	chr18:9135800-9138400	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr18:9135800-9138400	Active TSS	Fetal Intestine Large	intestine
28	chr18:9135800-9138400	Active TSS	Left Ventricle	heart
29	chr18:9135800-9138600	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr18:9135800-9138600	Active TSS	Fetal Intestine Small	intestine
31	chr18:9135800-9138600	Active TSS	Lung	lung
32	chr18:9135800-9138600	Active TSS	Pancreas	Pancrea
33	chr18:9135800-9138600	Active TSS	Small Intestine	intestine
34	chr18:9135800-9138800	Active TSS	Ovary	ovary
35	chr18:9135800-9138800	Active TSS	Hela-S3	cervix
36	chr18:9135800-9139000	Active TSS	Colonic Mucosa	Colon
37	chr18:9135800-9140000	Active TSS	Aorta	Aorta
38	chr18:9135800-9140800	Active TSS	GM12878-XiMat	blood
39	chr18:9136000-9137600	Active TSS	Primary T cells from cord blood	blood
40	chr18:9136000-9137600	Active TSS	Fetal Kidney	kidney
41	chr18:9136000-9137800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr18:9136000-9137800	Active TSS	Primary B cells from peripheral blood	blood
43	chr18:9136000-9137800	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr18:9136000-9137800	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr18:9136000-9137800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr18:9136000-9137800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr18:9136000-9137800	Active TSS	Thymus	Thymus
48	chr18:9136000-9138000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr18:9136000-9138000	Active TSS	Fetal Heart	heart
50	chr18:9136000-9138000	Active TSS	Monocytes-CD14+_RO01746	blood

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