Variant report

Variant	rs2300014
Chromosome Location	chr7:107938242-107938243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:107937637..107939802-chr7:108095518..108098035,3	MCF-7	breast:
2	chr7:107885444..107889446-chr7:107936320..107941216,4	MCF-7	breast:
3	chr7:107937668..107941473-chr7:107996254..108000894,5	MCF-7	breast:
4	chr7:107840154..107842979-chr7:107937702..107939902,2	MCF-7	breast:
5	chr7:107840057..107842255-chr7:107937956..107941774,3	MCF-7	breast:
6	chr7:107930752..107933426-chr7:107936477..107939262,3	MCF-7	breast:
7	chr7:107936599..107939475-chr7:108034217..108037147,2	MCF-7	breast:
8	chr7:107936793..107941797-chr7:107984945..107993863,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000091129	Chromatin interaction
ENSG00000266112	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13242382	0.81[EUR][1000 genomes]
rs9649300	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv888942	chr7:107893695-108055858	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv888943	chr7:107893695-108058574	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1030425	chr7:107910716-108041036	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1019059	chr7:107935905-107995523	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv1021783	chr7:107935905-107998281	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv2761354	chr7:107935905-107998293	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv1031824	chr7:107935905-108006038	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107924200-107939600	Weak transcription	Pancreas	Pancrea
2	chr7:107925400-107952000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:107927200-107939600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:107930200-107938400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:107930600-107938400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:107931000-107947400	Weak transcription	Fetal Brain Female	brain
7	chr7:107932000-107950600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:107932200-107939800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:107932800-107939600	Weak transcription	Fetal Intestine Large	intestine
10	chr7:107933400-107942800	Weak transcription	Brain Angular Gyrus	brain
11	chr7:107933600-107947400	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:107933800-107939600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:107934000-107939200	Weak transcription	Fetal Intestine Small	intestine
14	chr7:107934800-107939200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:107935200-107939600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:107935200-107947000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:107935400-107939600	Weak transcription	HSMM	muscle
18	chr7:107935400-107950600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:107935600-107939200	Weak transcription	HMEC	breast
20	chr7:107935600-107939600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:107935600-107939600	Weak transcription	Hela-S3	cervix
22	chr7:107935600-107939600	Enhancers	HUVEC	blood vessel
23	chr7:107935600-107939600	Weak transcription	NHEK	skin
24	chr7:107935800-107939800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:107936600-107946800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:107937000-107939600	Weak transcription	Brain Substantia Nigra	brain
27	chr7:107937600-107938400	Enhancers	Brain Cingulate Gyrus	brain
28	chr7:107937800-107938400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:107937800-107939600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:107938000-107938400	Genic enhancers	A549	lung
31	chr7:107938000-107939800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:107938000-107939800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:107938000-107942600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:107938200-107941600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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