Variant report

Variant	rs4718096
Chromosome Location	chr7:64125413-64125414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:64125401-64125451	PANC-1	pancreas:	n/a
2	chr7:64125401-64125451	GM12891	blood:	n/a
3	chr7:64125401-64125451	MCF10A-Er-Src	breast:	n/a
4	chr7:64125401-64125451	HepG2	liver:	n/a
5	chr7:64125401-64125451	BJ	skin:	n/a
6	chr7:64125401-64125451	ovcar-3	ovarian:	n/a
7	chr7:64125401-64125451	AG10803	skin:	n/a
8	chr7:64125401-64125451	SKMC	muscle:	n/a
9	chr7:64125401-64125451	HEEpiC	esophagus:	n/a
10	chr7:64125401-64125451	AG04450	lung:	fetal
11	chr7:64125401-64125451	HL-60	blood:	n/a
12	chr7:64125401-64125451	HMEC	breast:	n/a
13	chr7:64125401-64125451	CMK	blood:	n/a
14	chr7:64125401-64125451	HNPCEpiC	eye:	n/a
15	chr7:64125401-64125451	HCT-116	colon:	n/a
16	chr7:64125401-64125451	U87	brain:	n/a
17	chr7:64125401-64125451	ECC-1	luminal epithelium:	n/a
18	chr7:64125401-64125451	PrEC	prostate:	n/a
19	chr7:64125401-64125451	HPAEpiC	pulmonary alveolar:	n/a
20	chr7:64125401-64125451	ProgFib	skin:	n/a
21	chr7:64125401-64125451	NHBE	bronchial:	n/a
22	chr7:64125401-64125451	HEK293	kidney:	embryo
23	chr7:64125401-64125451	SK-N-SH_RA	brain:	n/a
24	chr7:64125401-64125451	AG09309	skin:	n/a
25	chr7:64125401-64125451	NH-A	brain:	n/a
26	chr7:64125401-64125451	HRCEpiC	kidney:	n/a
27	chr7:64125401-64125451	BE2_C	brain:	n/a
28	chr7:64125401-64125451	HIPEpiC	eye:	n/a
29	chr7:64125401-64125451	HCPEpiC	choroid plexus:	n/a
30	chr7:64125401-64125451	A549	lung:	n/a
31	chr7:64125401-64125451	AG04449	skin:	fetal
32	chr7:64125401-64125451	H1-hESC	embryonic stem cell:	embryo
33	chr7:64125401-64125451	HAEpiC	amniotic membrane:	n/a
34	chr7:64125401-64125451	T-47D	breast:	n/a
35	chr7:64125401-64125451	Hepatocyte	liver:	n/a
36	chr7:64125401-64125451	SK-N-SH	brain:	n/a
37	chr7:64125401-64125451	LNCaP	prostate:	n/a
38	chr7:64125401-64125451	Caco-2	colon:	n/a
39	chr7:64125401-64125451	NB4	blood:	n/a
40	chr7:64125401-64125451	HCF	heart:	n/a
41	chr7:64125401-64125451	GM06990	blood:	n/a
42	chr7:64125401-64125451	AoSMC	blood vessel:	n/a
43	chr7:64125401-64125451	HUVEC	blood vessel:	n/a
44	chr7:64125401-64125451	AG09319	gingival:	n/a
45	chr7:64125401-64125451	GM12892	blood:	n/a
46	chr7:64125401-64125451	PFSK-1	brain:	n/a
47	chr7:64125401-64125451	HRE	kidney:	n/a
48	chr7:64125401-64125451	Jurkat	blood:	n/a
49	chr7:64125401-64125451	GM12878	blood:	n/a
50	chr7:64125401-64125451	NT2-D1	testis:	n/a

No data

Variant related genes	Relation type
ZNF107	CpG island

Extended variants
information (count: 42 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1104867	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11768255	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13230561	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13231070	0.92[ASN][1000 genomes]
rs1596929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17779754	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1838901	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2862793	0.81[CEU][hapmap]
rs2862797	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2862798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2902328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34126100	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4718100	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4718102	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4718103	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6460173	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6651043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6651044	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6962303	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73361894	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7385908	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv2764000	chr7:63766980-64275251	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
4	esv2755057	chr7:63819849-64345822	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
5	nsv1031703	chr7:63839601-64225952	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
6	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv888271	chr7:63961212-64295884	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv888273	chr7:63990100-64291622	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
10	nsv888274	chr7:63990100-64331123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
11	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
12	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
13	nsv1021893	chr7:63995601-64155027	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
14	nsv538892	chr7:63995601-64155027	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
15	nsv888278	chr7:64048473-64139463	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
16	esv3521185	chr7:64048921-64136654	Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	esv3521187	chr7:64048921-64136654	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	esv16290	chr7:64058602-64162829	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
19	nsv1027615	chr7:64065943-64138253	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv888279	chr7:64094285-64331123	Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4718096	ZNF588	cis	normal skin	skin_eQTL
rs4718096	ZNF107	cis	Muscle Skeletal	GTEx
rs4718096	ZNF107	cis	Stomach	GTEx
rs4718096	ZNF107	cis	Esophagus Muscularis	GTEx

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64124400-64125600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr7:64124400-64126000	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr7:64125200-64125600	Enhancers	Primary B cells from peripheral blood	blood
4	chr7:64125200-64125800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr7:64125200-64126000	Enhancers	Primary B cells from cord blood	blood
6	chr7:64125400-64125600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr7:64125400-64125600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr7:64125400-64125600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr7:64125400-64125600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:64125400-64125600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr7:64125400-64125600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr7:64125400-64125600	Enhancers	Lung	lung
13	chr7:64125400-64125800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr7:64125400-64125800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:64125400-64125800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:64125400-64125800	Enhancers	Brain Angular Gyrus	brain
17	chr7:64125400-64125800	Enhancers	Brain Cingulate Gyrus	brain
18	chr7:64125400-64125800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:64125400-64125800	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr7:64125400-64125800	Enhancers	Psoas Muscle	Psoas
21	chr7:64125400-64125800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr7:64125400-64125800	Enhancers	Right Atrium	heart
23	chr7:64125400-64125800	Enhancers	Right Ventricle	heart
24	chr7:64125400-64125800	Enhancers	Stomach Smooth Muscle	stomach
25	chr7:64125400-64125800	Flanking Active TSS	Dnd41	blood
26	chr7:64125400-64126000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr7:64125400-64126000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:64125400-64126200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr7:64125400-64126200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr7:64125400-64126400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:64125400-64126600	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr7:64125400-64126800	Active TSS	Adipose Nuclei	Adipose
33	chr7:64125400-64126800	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr7:64125400-64127000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:64125400-64127000	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr7:64125400-64127200	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr7:64125400-64127200	Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr7:64125400-64127200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:64125400-64127200	Active TSS	Left Ventricle	heart
40	chr7:64125400-64127200	Active TSS	Ovary	ovary
41	chr7:64125400-64127400	Active TSS	Primary T cells from cord blood	blood
42	chr7:64125400-64127400	Active TSS	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links