Variant report

Variant	rs393245
Chromosome Location	chr7:107835849-107835850
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107834408..107836242-chr7:107841552..107843873,2	MCF-7	breast:
2	chr7:107834413..107838118-chr7:108096452..108098366,3	MCF-7	breast:
3	chr7:107835364..107837949-chr7:107846458..107849408,2	K562	blood:

Variant related genes	Relation type
ENSG00000091129	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1269627	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2072320	0.88[ASN][1000 genomes]
rs369800	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs369884	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs379986	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs381318	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs382932	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs383341	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs392704	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs392976	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs397179	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs397704	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs402029	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404287	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs404453	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs425013	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs449540	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs449711	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4727701	0.83[EUR][1000 genomes]
rs61040788	0.81[ASN][1000 genomes]
rs6958498	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6978315	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7796457	0.81[ASN][1000 genomes]
rs9641405	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv1030222	chr7:107809927-107844916	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107786800-107857800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr7:107787800-107844200	Weak transcription	Brain Germinal Matrix	brain
3	chr7:107818200-107851800	Weak transcription	HSMMtube	muscle
4	chr7:107818600-107848400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:107820600-107867400	Weak transcription	Brain Angular Gyrus	brain
6	chr7:107820800-107840800	Weak transcription	Placenta	Placenta
7	chr7:107820800-107846800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:107820800-107850600	Weak transcription	Fetal Intestine Large	intestine
9	chr7:107820800-107851200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:107821000-107852200	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:107821600-107850400	Weak transcription	Fetal Brain Male	brain
12	chr7:107827600-107836600	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:107827800-107836000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:107828000-107852000	Weak transcription	Pancreas	Pancrea
15	chr7:107828600-107838200	Strong transcription	A549	lung
16	chr7:107828800-107846600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:107828800-107851400	Weak transcription	Fetal Intestine Small	intestine
18	chr7:107829600-107848600	Weak transcription	Brain Anterior Caudate	brain
19	chr7:107830200-107836200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:107830400-107839800	Weak transcription	Brain Substantia Nigra	brain
21	chr7:107830400-107857200	Weak transcription	Fetal Brain Female	brain
22	chr7:107830400-107886400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:107831600-107836200	Weak transcription	HSMM	muscle
24	chr7:107832000-107836200	Weak transcription	Osteobl	bone
25	chr7:107832000-107836400	Weak transcription	NHDF-Ad	bronchial
26	chr7:107833200-107836400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:107834800-107836800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:107834800-107841800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:107835000-107836800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:107835000-107836800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:107835000-107838400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr7:107835000-107840600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:107835000-107851400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:107835400-107836200	Weak transcription	HUVEC	blood vessel
35	chr7:107835400-107841600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:107835400-107845400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:107835600-107837600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr7:107835600-107844200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr7:107835800-107836200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:107835800-107836400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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