Variant report

Variant	rs73761530
Chromosome Location	chr5:58835422-58835423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1813481	1.00[AMR][1000 genomes]
rs1813482	1.00[AMR][1000 genomes]
rs1813483	1.00[AMR][1000 genomes]
rs3903515	1.00[AMR][1000 genomes]
rs55874040	1.00[AMR][1000 genomes]
rs55884041	1.00[AMR][1000 genomes]
rs56075849	1.00[AMR][1000 genomes]
rs56085550	1.00[AMR][1000 genomes]
rs56125266	1.00[AMR][1000 genomes]
rs56143170	1.00[AMR][1000 genomes]
rs56378519	1.00[AMR][1000 genomes]
rs56386809	1.00[AMR][1000 genomes]
rs57438370	1.00[AMR][1000 genomes]
rs58287048	1.00[AMR][1000 genomes]
rs59281772	1.00[AMR][1000 genomes]
rs59524261	1.00[AMR][1000 genomes]
rs59983793	1.00[AMR][1000 genomes]
rs60858267	1.00[AMR][1000 genomes]
rs6877740	1.00[AMR][1000 genomes]
rs73758503	1.00[AMR][1000 genomes]
rs73758504	1.00[AMR][1000 genomes]
rs73758505	1.00[AMR][1000 genomes]
rs73758506	1.00[AMR][1000 genomes]
rs73758507	1.00[AMR][1000 genomes]
rs73758509	1.00[AMR][1000 genomes]
rs73758510	1.00[AMR][1000 genomes]
rs73758511	1.00[AMR][1000 genomes]
rs73758512	1.00[AMR][1000 genomes]
rs73758513	1.00[AMR][1000 genomes]
rs73758690	1.00[AMR][1000 genomes]
rs73758692	1.00[AMR][1000 genomes]
rs73758693	1.00[AMR][1000 genomes]
rs73758694	1.00[AMR][1000 genomes]
rs73758695	1.00[AMR][1000 genomes]
rs73758699	1.00[AMR][1000 genomes]
rs73758700	1.00[AMR][1000 genomes]
rs73758701	1.00[AMR][1000 genomes]
rs73758840	1.00[AMR][1000 genomes]
rs73758841	1.00[AMR][1000 genomes]
rs73758842	1.00[AMR][1000 genomes]
rs73758854	1.00[AMR][1000 genomes]
rs73758861	1.00[AMR][1000 genomes]
rs73758863	1.00[AMR][1000 genomes]
rs73758866	1.00[AMR][1000 genomes]
rs73758869	1.00[AMR][1000 genomes]
rs73758874	1.00[AMR][1000 genomes]
rs73758875	1.00[AMR][1000 genomes]
rs73758878	1.00[AMR][1000 genomes]
rs73758879	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73758880	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73758881	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73760303	1.00[AMR][1000 genomes]
rs73760305	1.00[AMR][1000 genomes]
rs73760361	1.00[AMR][1000 genomes]
rs73760362	1.00[AMR][1000 genomes]
rs73760365	1.00[AMR][1000 genomes]
rs73760616	1.00[AMR][1000 genomes]
rs73760618	1.00[AMR][1000 genomes]
rs73760620	1.00[AMR][1000 genomes]
rs73760622	1.00[AMR][1000 genomes]
rs73761528	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7723589	1.00[AMR][1000 genomes]
rs7735649	1.00[AMR][1000 genomes]
rs7735819	1.00[AMR][1000 genomes]
rs931856	1.00[AMR][1000 genomes]
rs931857	1.00[AMR][1000 genomes]

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	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv881706	chr5:58730111-58865857	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1031631	chr5:58783629-59015470	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv462189	chr5:58830145-58879822	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv598255	chr5:58830145-58879822	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58822200-58838800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:58822800-58837600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:58823000-58838200	Weak transcription	Fetal Brain Male	brain
4	chr5:58824800-58836000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:58825000-58838600	Weak transcription	HSMMtube	muscle
6	chr5:58828200-58836200	Genic enhancers	A549	lung
7	chr5:58828800-58838800	Weak transcription	Gastric	stomach
8	chr5:58830400-58839000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:58831800-58836000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:58833200-58835800	Weak transcription	Stomach Mucosa	stomach
11	chr5:58834600-58838800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr5:58834600-58840600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr5:58834600-58840800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:58834800-58835600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:58834800-58835800	Weak transcription	Brain Anterior Caudate	brain
16	chr5:58834800-58835800	Weak transcription	Psoas Muscle	Psoas
17	chr5:58834800-58836200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:58835000-58836400	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:58835000-58837400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:58835200-58835800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:58835400-58836400	Weak transcription	Fetal Brain Female	brain
22	chr5:58835400-58840600	Enhancers	Brain Germinal Matrix	brain

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