Variant report

Variant	rs3131848
Chromosome Location	chr6:29649093-29649094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:29648195-29649120	GM18951	blood:	n/a	n/a
2	POLR2A	chr6:29647749-29649223	GM12891	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29649092-29649142	HAEpiC	amniotic membrane:	n/a
2	chr6:29649084-29649134	Hela-S3	cervix:	n/a
3	chr6:29649084-29649134	AoSMC	blood vessel:	n/a
4	chr6:29649092-29649142	SK-N-SH_RA	brain:	n/a
5	chr6:29649092-29649142	ECC-1	luminal epithelium:	n/a
6	chr6:29649092-29649142	PANC-1	pancreas:	n/a
7	chr6:29649092-29649142	GM19239	blood:	n/a
8	chr6:29649084-29649134	AG09309	skin:	n/a
9	chr6:29649084-29649134	Caco-2	colon:	n/a
10	chr6:29649084-29649134	A549	lung:	n/a
11	chr6:29649092-29649142	BE2_C	brain:	n/a
12	chr6:29649092-29649142	Hela-S3	cervix:	n/a
13	chr6:29649084-29649134	ovcar-3	ovarian:	n/a
14	chr6:29649092-29649142	NHBE	bronchial:	n/a
15	chr6:29649084-29649134	PANC-1	pancreas:	n/a
16	chr6:29649084-29649134	Hepatocyte	liver:	n/a
17	chr6:29649084-29649134	PrEC	prostate:	n/a
18	chr6:29649092-29649142	NB4	blood:	n/a
19	chr6:29649092-29649142	GM12878	blood:	n/a
20	chr6:29649092-29649142	HL-60	blood:	n/a
21	chr6:29649084-29649134	HRE	kidney:	n/a
22	chr6:29649092-29649142	NT2-D1	testis:	n/a
23	chr6:29649092-29649142	IMR90	lung:	fetal
24	chr6:29649084-29649134	HPAEpiC	pulmonary alveolar:	n/a
25	chr6:29649084-29649134	U87	brain:	n/a
26	chr6:29649092-29649142	MCF10A-Er-Src	breast:	n/a
27	chr6:29649084-29649134	AG09319	gingival:	n/a
28	chr6:29649092-29649142	PrEC	prostate:	n/a
29	chr6:29649084-29649134	NB4	blood:	n/a
30	chr6:29649092-29649142	Jurkat	blood:	n/a
31	chr6:29649092-29649142	HCM	heart:	n/a
32	chr6:29649084-29649134	HCM	heart:	n/a
33	chr6:29649084-29649134	MCF-7	breast:	n/a
34	chr6:29649092-29649142	HRCEpiC	kidney:	n/a
35	chr6:29649084-29649134	NH-A	brain:	n/a
36	chr6:29649084-29649134	GM06990	blood:	n/a
37	chr6:29649084-29649134	RPTEC	kidney:	n/a
38	chr6:29649092-29649142	AG04449	skin:	fetal
39	chr6:29649084-29649134	IMR90	lung:	fetal
40	chr6:29649092-29649142	SAEC	small airway:	n/a
41	chr6:29649084-29649134	AG10803	skin:	n/a
42	chr6:29649084-29649134	NHBE	bronchial:	n/a
43	chr6:29649092-29649142	GM12891	blood:	n/a
44	chr6:29649084-29649134	H1-hESC	embryonic stem cell:	embryo
45	chr6:29649092-29649142	HepG2	liver:	n/a
46	chr6:29649092-29649142	U87	brain:	n/a
47	chr6:29649092-29649142	SK-N-MC	brain:	n/a
48	chr6:29649092-29649142	HEEpiC	esophagus:	n/a
49	chr6:29649092-29649142	RPTEC	kidney:	n/a
50	chr6:29649084-29649134	HAEpiC	amniotic membrane:	n/a

No data

Variant related genes	Relation type
ZFP57	TF binding region
ZFP57	CpG island

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1018935	0.87[AFR][1000 genomes]
rs2079895	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2394657	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2535235	0.85[AFR][1000 genomes]
rs2535236	0.87[AFR][1000 genomes]
rs2535237	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2747434	0.87[AFR][1000 genomes]
rs2747436	0.87[AFR][1000 genomes]
rs2747440	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2747442	0.86[AFR][1000 genomes]
rs2747443	0.86[AFR][1000 genomes]
rs2747451	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2747454	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2747463	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2907898	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2982836	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2982839	0.88[AFR][1000 genomes]
rs2982841	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3095286	0.86[AFR][1000 genomes]
rs3095289	0.90[AFR][1000 genomes]
rs3095296	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3129030	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3129054	0.90[AFR][1000 genomes]
rs3131847	0.90[AFR][1000 genomes]
rs3131887	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6902607	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758039	chr6:29469101-29672665	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv2759411	chr6:29469101-29672665	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv883530	chr6:29645038-29677641	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv10808	chr6:29648051-29653183	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3131848	ZFP57	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29625000-29663600	Weak transcription	Right Atrium	heart
2	chr6:29646000-29651400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr6:29646200-29651400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr6:29646200-29651400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:29646800-29651400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:29647000-29649600	Weak transcription	Spleen	Spleen
7	chr6:29647000-29651400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:29647000-29651400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:29647400-29651600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr6:29647600-29649200	Active TSS	Fetal Heart	heart
11	chr6:29648000-29649200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
12	chr6:29648000-29649200	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
13	chr6:29648000-29651400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:29648200-29649200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
15	chr6:29648200-29651400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr6:29648400-29649200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:29648400-29649200	Active TSS	NHEK	skin
18	chr6:29648600-29649200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:29648600-29649200	Active TSS	Adipose Nuclei	Adipose
20	chr6:29648800-29649200	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
21	chr6:29648800-29649200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:29648800-29649200	Bivalent/Poised TSS	Placenta	Placenta
23	chr6:29648800-29651400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:29648800-29662600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:29649000-29651200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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