Variant report

Variant	rs622061
Chromosome Location	chr18:11995402-11995403
allele	A/G
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	POLR2A	chr18:11994502-11995667	HepG2	liver:	n/a	n/a
2	CTCF	chr18:11995350-11995702	K562	blood:	n/a	chr18:11995586-11995602
3	RUNX3	chr18:11995381-11995753	GM12878	blood:	n/a	n/a
4	ELF1	chr18:11995386-11995775	K562	blood:	n/a	chr18:11995653-11995665
5	MAX	chr18:11994341-11995703	Hela-S3	cervix:	n/a	chr18:11994937-11994946 chr18:11994809-11994819
6	RAD21	chr18:11995169-11995844	ECC-1	luminal epithelium:	n/a	chr18:11995700-11995714
7	RAD21	chr18:11995301-11995744	H1-hESC	embryonic stem cell:	n/a	chr18:11995700-11995714
8	POLR2A	chr18:11995189-11995659	MCF10A-Er-Src	breast:	n/a	n/a
9	MAZ	chr18:11994217-11996003	IMR90	lung:	n/a	chr18:11994937-11994946
10	MAX	chr18:11995318-11995784	NB4	blood:	n/a	n/a
11	MAX	chr18:11994311-11995863	HepG2	liver:	n/a	chr18:11994937-11994946 chr18:11994809-11994819
12	SMC3	chr18:11994455-11995935	HepG2	liver:	n/a	n/a
13	SIN3A	chr18:11994863-11995742	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr18:11995331-11995733	A549	lung:	n/a	chr18:11995586-11995602
15	MAX	chr18:11994248-11995839	A549	lung:	n/a	chr18:11994937-11994946 chr18:11994809-11994819
16	POLR2A	chr18:11994227-11996555	HL-60	blood:	n/a	n/a
17	SMC3	chr18:11995340-11995765	GM12878	blood:	n/a	n/a
18	CTCF	chr18:11995349-11995879	K562	blood:	n/a	chr18:11995586-11995602
19	RCOR1	chr18:11995355-11995772	K562	blood:	n/a	n/a
20	RAD21	chr18:11995196-11995812	HepG2	liver:	n/a	chr18:11995700-11995714
21	TCF12	chr18:11994151-11995669	A549	lung:	n/a	n/a
22	MXI1	chr18:11994888-11995696	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr18:11993291-11997275	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr18:11995363-11995735	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr18:11994264-11995704	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr18:11994498-11996051	K562	blood:	n/a	n/a
27	RAD21	chr18:11995372-11995709	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr18:11995366-11995800	H1-hESC	embryonic stem cell:	n/a	chr18:11995586-11995602
29	POLR2A	chr18:11994772-11995425	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr18:11995313-11995788	HepG2	liver:	n/a	chr18:11995586-11995602
31	ZNF143	chr18:11995193-11995757	K562	blood:	n/a	n/a
32	MYBL2	chr18:11995277-11995803	HepG2	liver:	n/a	n/a
33	CTCF	chr18:11995352-11995809	GM12878	blood:	n/a	chr18:11995586-11995602
34	CTCF	chr18:11995333-11995838	K562	blood:	n/a	chr18:11995586-11995602
35	POLR2A	chr18:11994673-11995543	A549	lung:	n/a	n/a
36	ZNF384	chr18:11995304-11995661	K562	blood:	n/a	n/a
37	CTCF	chr18:11995350-11995812	IMR90	lung:	n/a	chr18:11995586-11995602
38	RAD21	chr18:11995327-11995855	A549	lung:	n/a	chr18:11995700-11995714
39	MBD4	chr18:11994898-11995555	HepG2	liver:	n/a	n/a
40	MAX	chr18:11994606-11995733	A549	lung:	n/a	chr18:11994937-11994946 chr18:11994809-11994819
41	CTCF	chr18:11995400-11995550	HAc	cerebellar:	n/a	n/a
42	MAX	chr18:11995297-11995797	K562	blood:	n/a	n/a
43	POLR2A	chr18:11995203-11995448	MCF10A-Er-Src	breast:	n/a	n/a
44	CTCF	chr18:11995281-11995871	MCF-7	breast:	n/a	chr18:11995586-11995602
45	MAX	chr18:11994581-11995713	HepG2	liver:	n/a	chr18:11994937-11994946 chr18:11994809-11994819
46	SMC3	chr18:11994259-11995797	Hela-S3	cervix:	n/a	n/a
47	RAD21	chr18:11995375-11995718	GM12878	blood:	n/a	chr18:11995700-11995714
48	KAP1	chr18:11995238-11995592	U2OS	brain:	n/a	n/a
49	MAFK	chr18:11995372-11995768	IMR90	lung:	n/a	n/a
50	POLR2A	chr18:11994160-11997305	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:11994002..11996965-chr18:12008009..12011015,3	MCF-7	breast:
2	chr18:11979171..11983679-chr18:11993501..11995734,4	MCF-7	breast:
3	chr18:11913714..11914470-chr18:11995363..11996159,2	MCF-7	breast:
4	chr18:11937478..11938603-chr18:11995051..11996237,21	K562	blood:
5	chr18:11654974..11655700-chr18:11995123..11996004,2	K562	blood:
6	chr18:11978568..11983192-chr18:11993805..11998306,5	MCF-7	breast:
7	chr18:11937069..11938706-chr18:11995081..11996087,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266955	TF binding region
IMPA2	TF binding region
ENSG00000267079	Chromatin interaction
ENSG00000141401	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs3859296	0.83[ASN][1000 genomes]
rs58393627	0.86[ASN][1000 genomes]
rs588257	0.83[ASN][1000 genomes]
rs589247	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs590100	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs590277	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs591061	0.82[ASN][1000 genomes]
rs592577	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs604962	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs605047	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs605636	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs605964	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs606020	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs606105	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs606370	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs606478	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs607200	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs622246	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs636173	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs636300	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs638063	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs638125	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs649396	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs649713	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs650727	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs655790	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs666521	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs667798	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs668223	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs669838	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs682271	0.83[ASN][1000 genomes]
rs683190	0.83[ASN][1000 genomes]
rs684680	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer 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	66 gene(s)	inside rSNPs	diseases
2	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription 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	35 gene(s)	inside rSNPs	diseases
5	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	nsv909386	chr18:11938102-12095950	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv909388	chr18:11987988-12141372	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS 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	20 gene(s)	inside rSNPs	diseases
8	nsv909389	chr18:11987988-12141625	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv909390	chr18:11987988-12155371	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv528699	chr18:11989416-12029857	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv909391	chr18:11989416-12146408	Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv909392	chr18:11989416-12146698	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11982400-12005000	Weak transcription	Aorta	Aorta
2	chr18:11982600-11995600	Weak transcription	Primary T cells from cord blood	blood
3	chr18:11982600-11995800	Weak transcription	Thymus	Thymus
4	chr18:11982600-12028600	Weak transcription	Small Intestine	intestine
5	chr18:11986000-11995600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr18:11988000-11995600	Weak transcription	K562	blood
7	chr18:11989600-11996400	Enhancers	Pancreas	Pancrea
8	chr18:11990600-11995800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:11991000-11999200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr18:11993200-11996600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:11993200-11996600	Enhancers	HSMMtube	muscle
12	chr18:11993200-11998000	Enhancers	Stomach Mucosa	stomach
13	chr18:11993200-11998400	Enhancers	Fetal Muscle Trunk	muscle
14	chr18:11993400-11995800	Enhancers	Lung	lung
15	chr18:11993400-11996400	Enhancers	Placenta	Placenta
16	chr18:11993400-11999400	Enhancers	Fetal Muscle Leg	muscle
17	chr18:11993400-12016000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr18:11993600-11995600	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr18:11993600-11996000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr18:11993600-11996000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr18:11993600-11996000	Enhancers	Fetal Intestine Large	intestine
22	chr18:11993600-11996200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr18:11993600-11996200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr18:11993800-11996400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr18:11993800-11996400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr18:11994000-11996000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr18:11994200-11995800	Enhancers	Osteobl	bone
28	chr18:11994200-11996000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr18:11994200-11996000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr18:11994200-11996000	Flanking Active TSS	A549	lung
31	chr18:11994200-11996000	Enhancers	HSMM	muscle
32	chr18:11994200-11996600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr18:11994400-11996000	Enhancers	Fetal Lung	lung
34	chr18:11994400-11996000	Enhancers	Right Ventricle	heart
35	chr18:11994400-11996000	Flanking Active TSS	HepG2	liver
36	chr18:11994400-11996000	Enhancers	HMEC	breast
37	chr18:11994400-11996000	Enhancers	NHDF-Ad	bronchial
38	chr18:11994400-11996200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr18:11994400-11996200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr18:11994400-11997600	Enhancers	Colonic Mucosa	Colon
41	chr18:11994600-11995600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr18:11994600-11995600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr18:11994600-11995600	Enhancers	Psoas Muscle	Psoas
44	chr18:11994600-11995600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr18:11994600-11995800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr18:11994600-11996000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr18:11994600-11996000	Enhancers	Left Ventricle	heart
48	chr18:11994600-11996000	Enhancers	NHLF	lung
49	chr18:11994600-11996600	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr18:11994600-11996800	Enhancers	Liver	Liver

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