Variant report

Variant	rs1269622
Chromosome Location	chr7:107853337-107853338
allele	A/G
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	CBX3	chr7:107853247-107853656	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:107851104..107853420-chr7:108092854..108094489,2	MCF-7	breast:
2	chr7:107807826..107809750-chr7:107851888..107853621,2	MCF-7	breast:

Variant related genes	Relation type
NRCAM	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1269621	1.00[ASN][1000 genomes]
rs1269623	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1269625	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1269628	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1269629	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1269634	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1269639	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1269640	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1269641	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1269642	0.81[AMR][1000 genomes]
rs1269643	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1269645	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1269649	0.88[EUR][1000 genomes]
rs36065373	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs370133	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs403622	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs405945	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs422011	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs888189	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv831089	chr7:107687618-107877240	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv888941	chr7:107796150-107863395	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107786800-107857800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr7:107820600-107867400	Weak transcription	Brain Angular Gyrus	brain
3	chr7:107830400-107857200	Weak transcription	Fetal Brain Female	brain
4	chr7:107830400-107886400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr7:107847400-107854000	Weak transcription	Brain Germinal Matrix	brain
6	chr7:107847400-107854400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:107847600-107857400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:107847600-107863200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:107849400-107863000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:107851200-107853400	Enhancers	GM12878-XiMat	blood
11	chr7:107851400-107853400	Enhancers	HUVEC	blood vessel
12	chr7:107852200-107860800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:107852200-107875600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:107852400-107857200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:107852400-107875600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:107852400-107876000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:107852600-107857200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:107852600-107857800	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:107853000-107853800	Enhancers	A549	lung
20	chr7:107853000-107863200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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