Variant report

Variant	rs6890548
Chromosome Location	chr5:124340366-124340367
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:5)

rs_ID	r²[population]
rs11957892	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13185366	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35270378	0.94[ASN][1000 genomes]
rs36115385	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4472259	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	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	chr5:124323400-124348600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:124326600-124342000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:124333000-124341000	Weak transcription	Brain Anterior Caudate	brain
4	chr5:124333800-124341400	Weak transcription	Fetal Kidney	kidney
5	chr5:124336400-124341800	Enhancers	Dnd41	blood
6	chr5:124336800-124343000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:124337000-124343000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:124337000-124343000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:124337200-124341800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:124337200-124342000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:124337400-124341800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:124337600-124342600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:124337800-124342600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:124337800-124342800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:124338000-124343000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:124338400-124343000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:124338400-124343000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:124338600-124340400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr5:124338600-124340600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:124338800-124342800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:124339000-124340400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr5:124339400-124340600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:124339400-124340800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr5:124339400-124341000	Weak transcription	GM12878-XiMat	blood
25	chr5:124339600-124342200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr5:124340000-124341000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:124340000-124341000	Enhancers	Fetal Brain Female	brain
28	chr5:124340000-124341800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr5:124340200-124340800	Enhancers	Primary B cells from cord blood	blood
30	chr5:124340200-124342400	Enhancers	Brain Germinal Matrix	brain
31	chr5:124340200-124343000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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