Variant report

Variant	rs114700239
Chromosome Location	chr5:58610623-58610624
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598252	chr5:58487764-58618889	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1030117	chr5:58587672-58637179	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2760953	chr5:58609468-58620440	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58593000-58611200	Weak transcription	Right Ventricle	heart
2	chr5:58593200-58612600	Weak transcription	Fetal Lung	lung
3	chr5:58593200-58613400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:58594000-58612800	Weak transcription	Stomach Mucosa	stomach
5	chr5:58598000-58612600	Weak transcription	Fetal Intestine Large	intestine
6	chr5:58598000-58612800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:58598000-58612800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:58605000-58612800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:58605200-58612800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:58605200-58613000	Weak transcription	Fetal Brain Female	brain
11	chr5:58605600-58611200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr5:58605800-58612400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:58606000-58612600	Weak transcription	Fetal Stomach	stomach
14	chr5:58606800-58612800	Enhancers	Colon Smooth Muscle	Colon
15	chr5:58607000-58611000	Weak transcription	Fetal Intestine Small	intestine
16	chr5:58607000-58611600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr5:58607800-58611400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr5:58607800-58616400	Enhancers	Fetal Heart	heart
19	chr5:58608600-58612600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr5:58608800-58612600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr5:58609000-58611400	Weak transcription	Right Atrium	heart
22	chr5:58609800-58612000	Enhancers	Left Ventricle	heart
23	chr5:58609800-58612600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr5:58610000-58612600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:58610000-58613800	Enhancers	Fetal Muscle Leg	muscle
26	chr5:58610200-58612000	Enhancers	Psoas Muscle	Psoas
27	chr5:58610200-58612200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:58610200-58612800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:58610600-58611600	Genic enhancers	A549	lung
30	chr5:58610600-58613000	Enhancers	Hela-S3	cervix

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