Variant report

Variant	rs550259497
Chromosome Location	chr5:76080960-76080961
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv965590	chr5:76061083-76081416	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv462213	chr5:76067624-76112869	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv598682	chr5:76067624-76112869	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1015997	chr5:76079720-76129241	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76075600-76084200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:76076000-76083000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:76076000-76084200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:76077200-76081800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr5:76077600-76081400	Enhancers	A549	lung
6	chr5:76077800-76081600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:76077800-76085800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:76078200-76084200	Enhancers	HUVEC	blood vessel
9	chr5:76078800-76081000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:76079000-76082800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:76079000-76083400	Weak transcription	Spleen	Spleen
12	chr5:76079000-76084200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:76079800-76081600	Weak transcription	Stomach Mucosa	stomach
14	chr5:76079800-76083000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:76079800-76084000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:76080200-76084600	Enhancers	Fetal Intestine Large	intestine
17	chr5:76080400-76082800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:76080400-76086800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:76080600-76081800	Enhancers	HepG2	liver
20	chr5:76080600-76082000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr5:76080600-76082200	Enhancers	Fetal Intestine Small	intestine
22	chr5:76080600-76082800	Weak transcription	Fetal Muscle Leg	muscle
23	chr5:76080600-76083000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:76080600-76086800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:76080800-76081200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:76080800-76081200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:76080800-76085800	Weak transcription	Small Intestine	intestine
28	chr5:76080800-76086600	Weak transcription	Colonic Mucosa	Colon

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