Variant report

Variant	rs4718112
Chromosome Location	chr7:64256482-64256483
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:64253690..64256534-chr7:64497237..64499995,2	K562	blood:

Variant related genes	Relation type
ENSG00000234585	Chromatin interaction
ENSG00000239985	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1405004	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1405005	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1405007	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1525813	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1608898	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2863988	0.87[ASN][1000 genomes]
rs35926313	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62456789	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62456793	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954038	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6959035	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7805275	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs7811995	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	esv3394685	chr7:64150166-64268675	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
15	nsv1026390	chr7:64240323-64414364	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
16	nsv888281	chr7:64250409-64295884	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64254400-64256800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:64254600-64256600	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr7:64254600-64256800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr7:64254600-64256800	Active TSS	GM12878-XiMat	blood
5	chr7:64255400-64256800	Enhancers	Pancreas	Pancrea
6	chr7:64255400-64256800	Enhancers	Small Intestine	intestine
7	chr7:64255400-64259600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:64255400-64259600	Weak transcription	Lung	lung
9	chr7:64255400-64277200	Weak transcription	Aorta	Aorta
10	chr7:64255600-64256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:64255600-64256600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr7:64255600-64256800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr7:64255600-64256800	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr7:64255600-64256800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:64255600-64256800	Enhancers	Brain Substantia Nigra	brain
16	chr7:64255600-64256800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr7:64255600-64257200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:64255600-64259800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr7:64255600-64260600	Weak transcription	Colonic Mucosa	Colon
20	chr7:64255600-64262000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:64255600-64266400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:64255800-64256600	Enhancers	Brain Cingulate Gyrus	brain
23	chr7:64255800-64256600	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr7:64255800-64256600	Enhancers	Fetal Lung	lung
25	chr7:64255800-64256800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr7:64255800-64256800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:64255800-64256800	Enhancers	Primary T cells from cord blood	blood
28	chr7:64255800-64256800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr7:64255800-64256800	Enhancers	Brain Angular Gyrus	brain
30	chr7:64255800-64256800	Enhancers	Brain Anterior Caudate	brain
31	chr7:64255800-64257400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr7:64255800-64257400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:64255800-64257400	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr7:64255800-64257400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:64255800-64257800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr7:64255800-64259000	Weak transcription	Fetal Intestine Large	intestine
37	chr7:64255800-64259600	Weak transcription	Fetal Intestine Small	intestine
38	chr7:64255800-64259600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr7:64255800-64259800	Weak transcription	HUVEC	blood vessel
40	chr7:64255800-64262400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr7:64255800-64268400	Weak transcription	Right Ventricle	heart
42	chr7:64255800-64272600	Weak transcription	NHLF	lung
43	chr7:64255800-64278800	Weak transcription	Placenta	Placenta
44	chr7:64255800-64293200	Weak transcription	NH-A	brain
45	chr7:64255800-64293400	Weak transcription	Psoas Muscle	Psoas
46	chr7:64256000-64256600	Enhancers	K562	blood
47	chr7:64256000-64256800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:64256000-64256800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr7:64256000-64256800	Flanking Active TSS	Hela-S3	cervix
50	chr7:64256000-64256800	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links