Variant report

Variant	rs6897538
Chromosome Location	chr5:58873064-58873065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs58786646	1.00[AMR][1000 genomes]
rs73758809	0.92[AFR][1000 genomes];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	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
3	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
4	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
5	nsv881708	chr5:58869051-59093198	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58859200-58883400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:58859400-58884000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:58859800-58873800	Weak transcription	HSMM	muscle
4	chr5:58860200-58873600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:58861800-58874600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:58862600-58874200	Weak transcription	Fetal Brain Male	brain
7	chr5:58863200-58878400	Weak transcription	Stomach Mucosa	stomach
8	chr5:58865600-58874400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:58865800-58874600	Weak transcription	Hela-S3	cervix
10	chr5:58865800-58875400	Weak transcription	Psoas Muscle	Psoas
11	chr5:58866000-58874400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:58867200-58874400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:58867400-58874400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:58867400-58874600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:58867400-58875400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:58867400-58879800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:58868000-58874400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr5:58870000-58873400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr5:58870400-58873200	Enhancers	Fetal Intestine Large	intestine
20	chr5:58870600-58878600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:58870600-58879600	Weak transcription	Small Intestine	intestine
22	chr5:58872000-58876400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr5:58872200-58874400	Weak transcription	Fetal Intestine Small	intestine
24	chr5:58872800-58873600	Transcr. at gene 5' and 3'	A549	lung
25	chr5:58872800-58875600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:58872800-58880400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:58873000-58873800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:58873000-58879600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:58873000-58880000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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