Variant report

Variant	rs6896121
Chromosome Location	chr5:58814518-58814519
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13180690	1.00[ASN][1000 genomes]
rs16889908	1.00[EUR][1000 genomes]
rs16889919	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17796734	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs28435556	0.98[EUR][1000 genomes]
rs28725359	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58922738	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7706227	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58800600-58815000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:58801400-58817000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr5:58804800-58819800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:58810000-58823600	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:58811200-58817000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:58813200-58815000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:58813200-58815000	Enhancers	HMEC	breast
8	chr5:58813200-58815400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:58813200-58815600	Enhancers	HSMM	muscle
10	chr5:58813200-58815800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr5:58813400-58814600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:58813400-58814600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:58813400-58814600	Enhancers	NHEK	skin
14	chr5:58813400-58814600	Enhancers	Osteobl	bone
15	chr5:58813400-58814800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:58813600-58814800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:58813600-58815200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:58813600-58818800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:58813800-58815200	Enhancers	NH-A	brain
20	chr5:58814200-58814600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:58814200-58814600	Enhancers	NHDF-Ad	bronchial
22	chr5:58814200-58818200	Weak transcription	HSMMtube	muscle
23	chr5:58814400-58814600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:58814400-58814600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr5:58814400-58814600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr5:58814400-58814600	Flanking Active TSS	A549	lung
27	chr5:58814400-58815600	Enhancers	HUVEC	blood vessel
28	chr5:58814400-58817200	Weak transcription	Fetal Intestine Large	intestine
29	chr5:58814400-58818200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr5:58814400-58818600	Weak transcription	Stomach Mucosa	stomach
31	chr5:58814400-58820400	Weak transcription	Psoas Muscle	Psoas

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