Variant report

Variant	rs3807126
Chromosome Location	chr7:128354995-128354996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:128354967-128355017	PrEC	prostate:	n/a
2	chr7:128354965-128355015	NB4	blood:	n/a
3	chr7:128354965-128355015	IMR90	lung:	fetal
4	chr7:128354967-128355017	HCF	heart:	n/a
5	chr7:128354965-128355015	MCF-7	breast:	n/a
6	chr7:128354965-128355015	NT2-D1	testis:	n/a
7	chr7:128354965-128355015	HEK293	kidney:	embryo
8	chr7:128354965-128355015	HCPEpiC	choroid plexus:	n/a
9	chr7:128354965-128355015	GM06990	blood:	n/a
10	chr7:128354967-128355017	GM06990	blood:	n/a
11	chr7:128354965-128355015	HMEC	breast:	n/a
12	chr7:128354965-128355015	T-47D	breast:	n/a
13	chr7:128354967-128355017	MCF-7	breast:	n/a
14	chr7:128354967-128355017	T-47D	breast:	n/a
15	chr7:128354967-128355017	HCPEpiC	choroid plexus:	n/a
16	chr7:128354965-128355015	Jurkat	blood:	n/a
17	chr7:128354965-128355015	PFSK-1	brain:	n/a
18	chr7:128354965-128355015	ECC-1	luminal epithelium:	n/a
19	chr7:128354967-128355017	HUVEC	blood vessel:	n/a
20	chr7:128354965-128355015	HIPEpiC	eye:	n/a
21	chr7:128354967-128355017	HNPCEpiC	eye:	n/a
22	chr7:128354967-128355017	NT2-D1	testis:	n/a
23	chr7:128354965-128355015	ProgFib	skin:	n/a
24	chr7:128354965-128355015	RPTEC	kidney:	n/a
25	chr7:128354965-128355015	SK-N-SH	brain:	n/a
26	chr7:128354965-128355015	SK-N-SH_RA	brain:	n/a
27	chr7:128354967-128355017	BE2_C	brain:	n/a
28	chr7:128354965-128355015	Hela-S3	cervix:	n/a
29	chr7:128354967-128355017	GM12892	blood:	n/a
30	chr7:128354965-128355015	HEEpiC	esophagus:	n/a
31	chr7:128354967-128355017	Jurkat	blood:	n/a
32	chr7:128354965-128355015	HL-60	blood:	n/a
33	chr7:128354967-128355017	Caco-2	colon:	n/a
34	chr7:128354967-128355017	HepG2	liver:	n/a
35	chr7:128354965-128355015	GM12892	blood:	n/a
36	chr7:128354965-128355015	CMK	blood:	n/a
37	chr7:128354965-128355015	HAEpiC	amniotic membrane:	n/a
38	chr7:128354967-128355017	BJ	skin:	n/a
39	chr7:128354967-128355017	IMR90	lung:	fetal
40	chr7:128354965-128355015	SKMC	muscle:	n/a
41	chr7:128354965-128355015	MCF10A-Er-Src	breast:	n/a
42	chr7:128354965-128355015	U87	brain:	n/a
43	chr7:128354967-128355017	AG09319	gingival:	n/a
44	chr7:128354967-128355017	LNCaP	prostate:	n/a
45	chr7:128354967-128355017	H1-hESC	embryonic stem cell:	embryo
46	chr7:128354965-128355015	HUVEC	blood vessel:	n/a
47	chr7:128354967-128355017	HMEC	breast:	n/a
48	chr7:128354967-128355017	GM12891	blood:	n/a
49	chr7:128354965-128355015	GM12878	blood:	n/a
50	chr7:128354967-128355017	SKMC	muscle:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128349572..128352222-chr7:128352293..128355252,3	MCF-7	breast:

No data

Variant related genes	Relation type
FAM71F1	CpG island

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10276394	0.81[ASN][1000 genomes]
rs3807125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4283986	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4731507	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4731508	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6946321	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72607753	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1016979	chr7:128333070-128534438	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128339000-128358800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:128349400-128378600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:128349800-128378200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:128349800-128378400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:128351200-128355000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr7:128353400-128355000	Enhancers	HMEC	breast
7	chr7:128353400-128355200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:128353400-128355200	Enhancers	NHEK	skin
9	chr7:128354000-128355600	Enhancers	HUVEC	blood vessel
10	chr7:128354200-128355200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:128354600-128355000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:128354600-128355400	Enhancers	Spleen	Spleen
13	chr7:128354600-128355400	Bivalent Enhancer	K562	blood
14	chr7:128354600-128356200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr7:128354800-128355400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr7:128354800-128355600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:128354800-128356000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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