Variant report

Variant	rs60014300
Chromosome Location	chr1:209981304-209981305
allele	A/C
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	ZNF143	chr1:209981250-209981834	K562	blood:	n/a	chr1:209981755-209981774
2	KAP1	chr1:209981201-209981864	HEK293	kidney:	n/a	n/a
3	EP300	chr1:209981293-209981829	SK-N-SH_RA	brain:	n/a	n/a
4	KAP1	chr1:209981188-209981961	U2OS	brain:	n/a	n/a
5	FOS	chr1:209981301-209981877	HUVEC	blood vessel:	n/a	chr1:209981571-209981582 chr1:209981572-209981583
6	MYC	chr1:209981289-209981758	K562	blood:	n/a	n/a
7	TEAD4	chr1:209981276-209981839	K562	blood:	n/a	n/a
8	TCF12	chr1:209981148-209982027	SK-N-SH	brain:	n/a	n/a
9	FOSL2	chr1:209981215-209981956	SK-N-SH	brain:	n/a	chr1:209981572-209981583
10	ARID3A	chr1:209981163-209981753	K562	blood:	n/a	n/a
11	POLR2A	chr1:209981231-209981689	MCF10A-Er-Src	breast:	n/a	n/a
12	UBTF	chr1:209981256-209981616	K562	blood:	n/a	n/a
13	MEF2A	chr1:209981168-209981959	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr1:209975033-209981799	MCF10A-Er-Src	breast:	n/a	n/a
15	RCOR1	chr1:209981137-209982147	IMR90	lung:	n/a	n/a
16	PBX3	chr1:209981281-209981970	SK-N-SH	brain:	n/a	n/a
17	SETDB1	chr1:209981030-209981687	U2OS	brain:	n/a	n/a
18	JUND	chr1:209981205-209981958	SK-N-SH	brain:	n/a	chr1:209981572-209981583
19	JUN	chr1:209981252-209982200	K562	blood:	n/a	chr1:209981572-209981583
20	GATA3	chr1:209981146-209981998	SK-N-SH	brain:	n/a	n/a
21	NFIC	chr1:209981264-209981946	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr1:209981247-209981762	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr1:209981275-209981850	SK-N-SH	brain:	n/a	n/a
24	FOS	chr1:209981290-209981857	MCF10A-Er-Src	breast:	n/a	chr1:209981571-209981582 chr1:209981572-209981583
25	JUND	chr1:209981237-209981936	SK-N-SH	brain:	n/a	chr1:209981572-209981583
26	TCF12	chr1:209980982-209982071	SK-N-SH	brain:	n/a	n/a
27	GATA3	chr1:209981245-209981954	SK-N-SH	brain:	n/a	n/a
28	ZNF384	chr1:209979331-209981763	K562	blood:	n/a	n/a
29	MEF2A	chr1:209981097-209981956	SK-N-SH	brain:	n/a	n/a
30	NFIC	chr1:209981091-209982047	SK-N-SH	brain:	n/a	n/a
31	FOS	chr1:209981283-209982027	MCF10A-Er-Src	breast:	n/a	chr1:209981571-209981582 chr1:209981572-209981583
32	FOS	chr1:209981273-209982046	MCF10A-Er-Src	breast:	n/a	chr1:209981571-209981582 chr1:209981572-209981583
33	RXRA	chr1:209981188-209981965	SK-N-SH	brain:	n/a	n/a
34	EP300	chr1:209981184-209982078	SK-N-SH	brain:	n/a	n/a
35	MEF2A	chr1:209981265-209981778	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:209979052..209983681-chr1:210545344..210549112,5	K562	blood:
2	chr1:209977871..209984485-chr1:209998424..210002427,6	K562	blood:
3	chr1:209980787..209983095-chr1:209985152..209988028,2	K562	blood:
4	chr1:209955520..209962214-chr1:209976009..209982555,8	K562	blood:
5	chr1:209956289..209959543-chr1:209978892..209981541,4	K562	blood:
6	chr1:209979780..209981458-chr1:209981509..209984915,3	K562	blood:
7	chr1:209968649..209970778-chr1:209979506..209982286,2	K562	blood:

Variant related genes	Relation type
IRF6	TF binding region
ENSG00000200972	Chromatin interaction
ENSG00000162757	Chromatin interaction
ENSG00000117597	Chromatin interaction
ENSG00000232222	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11806020	1.00[EUR][1000 genomes]
rs17015326	1.00[EUR][1000 genomes]
rs56655983	1.00[EUR][1000 genomes]
rs57139400	1.00[EUR][1000 genomes]
rs60079073	1.00[EUR][1000 genomes]
rs6540558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6540562	1.00[EUR][1000 genomes]
rs6684236	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6692359	1.00[EUR][1000 genomes]
rs74156256	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74156257	1.00[EUR][1000 genomes]
rs7550222	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209979600-209985000	Weak transcription	Gastric	stomach
2	chr1:209979800-209981400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:209979800-209981400	Weak transcription	Spleen	Spleen
4	chr1:209979800-209989200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:209980000-209981400	Weak transcription	Esophagus	oesophagus
6	chr1:209980000-209981400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:209980000-209981600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:209980000-209981600	Weak transcription	Adipose Nuclei	Adipose
9	chr1:209980000-209981600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:209980000-209981600	Weak transcription	Right Atrium	heart
11	chr1:209980000-209982000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:209980000-209982000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:209980000-209982200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:209980000-209982200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:209980000-209982200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:209980000-209982200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:209980000-209982200	Enhancers	Stomach Mucosa	stomach
18	chr1:209980000-209982400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:209980000-209982600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:209980000-209983600	Enhancers	Fetal Intestine Large	intestine
21	chr1:209980000-209983600	Enhancers	Fetal Intestine Small	intestine
22	chr1:209980200-209981800	Enhancers	Duodenum Mucosa	Duodenum
23	chr1:209980200-209982200	Enhancers	HUVEC	blood vessel
24	chr1:209980200-209982400	Enhancers	K562	blood
25	chr1:209980400-209981400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:209980400-209981600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:209980400-209981600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr1:209980600-209981800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:209980600-209982000	Enhancers	NH-A	brain
30	chr1:209980600-209982200	Enhancers	NHLF	lung
31	chr1:209980600-209982200	Enhancers	Osteobl	bone
32	chr1:209980800-209981400	Enhancers	Right Ventricle	heart
33	chr1:209980800-209981800	Enhancers	Pancreas	Pancrea
34	chr1:209980800-209982000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:209980800-209984400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:209980800-209985600	Enhancers	HMEC	breast
37	chr1:209981000-209981400	Flanking Active TSS	Fetal Heart	heart
38	chr1:209981000-209981400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:209981000-209982000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:209981000-209982000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:209981000-209982000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr1:209981000-209982000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:209981000-209982000	Enhancers	HSMM	muscle
44	chr1:209981000-209982200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:209981000-209982200	Enhancers	NHDF-Ad	bronchial
46	chr1:209981000-209982400	Enhancers	Placenta	Placenta
47	chr1:209981000-209985800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:209981200-209981400	Flanking Active TSS	HSMMtube	muscle
49	chr1:209981200-209982000	Enhancers	Hela-S3	cervix
50	chr1:209981200-209984400	Enhancers	NHEK	skin

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