Variant report

Variant	rs112311714
Chromosome Location	chr7:40509104-40509105
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	chr7:40498722..40501081-chr7:40509023..40511956,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv887985	chr7:40265510-40586674	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv817404	chr7:40295934-40573605	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv949540	chr7:40321357-40528147	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv830969	chr7:40422576-40582389	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1017615	chr7:40445480-40570791	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1029342	chr7:40489083-40542933	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv5711	chr7:40490519-40512988	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1030515	chr7:40501867-40634808	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv887987	chr7:40505382-40748650	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv538822	chr7:40508179-40546833	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40507600-40509200	Weak transcription	Fetal Lung	lung
2	chr7:40507600-40510400	Enhancers	NHDF-Ad	bronchial
3	chr7:40507800-40509600	Enhancers	NH-A	brain
4	chr7:40508000-40510400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:40508200-40509400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:40508200-40510000	Enhancers	HepG2	liver
7	chr7:40508200-40510200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:40508400-40509400	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:40508400-40509600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:40508400-40509800	Enhancers	NHLF	lung
11	chr7:40508400-40510200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:40508400-40510200	Enhancers	Fetal Stomach	stomach
13	chr7:40508400-40510200	Enhancers	HSMM	muscle
14	chr7:40508400-40510600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:40508600-40509600	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:40508800-40509200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:40508800-40509200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:40508800-40509200	Flanking Active TSS	Osteobl	bone
19	chr7:40508800-40509800	Enhancers	HSMMtube	muscle
20	chr7:40508800-40510200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:40508800-40510200	Enhancers	Aorta	Aorta
22	chr7:40508800-40510400	Enhancers	Fetal Kidney	kidney
23	chr7:40509000-40509400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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