Variant report

Variant	rs1997114
Chromosome Location	chr7:16792667-16792668
allele	C/T
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	REST	chr7:16792659-16794813	H1-neurons	neurons:	n/a	chr7:16793243-16793256 chr7:16793352-16793365

No.	Distal block	Cell Line	Cell type
1	chr7:16460318..16462710-chr7:16792580..16794734,3	K562	blood:
2	chr17:39676906..39679215-chr7:16792005..16794424,2	MCF-7	breast:
3	chr7:16684788..16686640-chr7:16792209..16794458,2	MCF-7	breast:
4	chr7:16685077..16688645-chr7:16790567..16794834,4	K562	blood:

Variant related genes	Relation type
TSPAN13	TF binding region
ENSG00000106524	Chromatin interaction
ENSG00000214960	Chromatin interaction
ENSG00000171346	Chromatin interaction
ENSG00000136261	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10233465	0.96[ASN][1000 genomes]
rs10238328	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1149519	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1149522	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1149524	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1149526	0.84[ASN][1000 genomes]
rs12530923	0.83[ASN][1000 genomes]
rs12535558	0.83[ASN][1000 genomes]
rs13244013	0.88[ASN][1000 genomes]
rs1997115	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2085706	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34614062	0.83[ASN][1000 genomes]
rs3779051	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3807490	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3807509	0.96[ASN][1000 genomes]
rs3823652	0.83[ASN][1000 genomes]
rs4400279	0.83[ASN][1000 genomes]
rs4721535	0.97[ASN][1000 genomes]
rs4721536	0.96[ASN][1000 genomes]
rs4721538	0.80[ASN][1000 genomes]
rs62441050	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6461275	0.85[EUR][1000 genomes]
rs6962578	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6975847	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6980298	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs706055	0.97[ASN][1000 genomes]
rs73299615	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7781646	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7809197	0.96[ASN][1000 genomes]
rs818803	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs818804	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers 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 target site	40 gene(s)	inside rSNPs	diseases
3	nsv1024059	chr7:16639432-16836425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16781400-16793000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:16783600-16792800	Weak transcription	NH-A	brain
3	chr7:16784400-16792800	Weak transcription	Right Atrium	heart
4	chr7:16784800-16792800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:16787000-16793000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:16787200-16793000	Weak transcription	Left Ventricle	heart
7	chr7:16787800-16792800	Weak transcription	Adipose Nuclei	Adipose
8	chr7:16788600-16792800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:16788600-16793000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:16789800-16792800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:16790800-16792800	Weak transcription	K562	blood
12	chr7:16791800-16793000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:16792600-16792800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr7:16792600-16792800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:16792600-16792800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:16792600-16792800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:16792600-16792800	Enhancers	Fetal Intestine Small	intestine
18	chr7:16792600-16792800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:16792600-16792800	Enhancers	HUVEC	blood vessel
20	chr7:16792600-16792800	Enhancers	NHEK	skin
21	chr7:16792600-16794200	Active TSS	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links