Variant report

Variant	rs73099614
Chromosome Location	chr5:58839926-58839927
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56841386	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56966592	0.86[AFR][1000 genomes]
rs59966237	1.00[AMR][1000 genomes]
rs73099633	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73099635	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73099639	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73099642	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73099646	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73099659	0.86[AFR][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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58834600-58840600	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr5:58834600-58840800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:58835400-58840600	Enhancers	Brain Germinal Matrix	brain
4	chr5:58835600-58840600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:58835800-58840200	Enhancers	Brain Cingulate Gyrus	brain
6	chr5:58835800-58840200	Enhancers	Brain Hippocampus Middle	brain
7	chr5:58835800-58840400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:58835800-58840400	Enhancers	Brain Angular Gyrus	brain
9	chr5:58835800-58840400	Enhancers	Brain Anterior Caudate	brain
10	chr5:58835800-58840400	Enhancers	Brain Substantia Nigra	brain
11	chr5:58836000-58840400	Enhancers	Duodenum Mucosa	Duodenum
12	chr5:58836600-58854400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:58836800-58857400	Weak transcription	Primary B cells from cord blood	blood
14	chr5:58837200-58840400	Enhancers	Stomach Mucosa	stomach
15	chr5:58837200-58840600	Enhancers	Rectal Smooth Muscle	rectum
16	chr5:58837200-58840600	Enhancers	Hela-S3	cervix
17	chr5:58837400-58840600	Enhancers	Colon Smooth Muscle	Colon
18	chr5:58837400-58840800	Enhancers	Fetal Kidney	kidney
19	chr5:58837600-58840200	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr5:58837600-58840600	Enhancers	Fetal Muscle Leg	muscle
21	chr5:58837600-58841400	Enhancers	Fetal Lung	lung
22	chr5:58837800-58840000	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr5:58837800-58840200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr5:58837800-58840600	Enhancers	Fetal Stomach	stomach
25	chr5:58838000-58840000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:58838000-58840000	Enhancers	Aorta	Aorta
27	chr5:58838200-58840200	Enhancers	Adipose Nuclei	Adipose
28	chr5:58838200-58840200	Enhancers	Fetal Brain Male	brain
29	chr5:58838200-58843600	Weak transcription	Psoas Muscle	Psoas
30	chr5:58838400-58840200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr5:58838400-58840400	Enhancers	Stomach Smooth Muscle	stomach
32	chr5:58838600-58840400	Enhancers	Liver	Liver
33	chr5:58838600-58840400	Enhancers	Fetal Heart	heart
34	chr5:58838600-58840600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:58838600-58840600	Enhancers	Small Intestine	intestine
36	chr5:58838600-58840600	Enhancers	HSMMtube	muscle
37	chr5:58838800-58840000	Enhancers	HSMM	muscle
38	chr5:58838800-58840400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:58838800-58840400	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr5:58838800-58840400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:58838800-58840400	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr5:58839000-58840000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:58839000-58840000	Enhancers	NH-A	brain
44	chr5:58839000-58840200	Enhancers	Fetal Intestine Small	intestine
45	chr5:58839000-58840800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:58839200-58840200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr5:58839200-58840400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr5:58839200-58840400	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr5:58839200-58840600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr5:58839400-58840000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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