Variant report

Variant	rs7147049
Chromosome Location	chr14:31351590-31351591
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10431648	0.88[EUR][1000 genomes]
rs7140258	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv832762	chr14:31238634-31414038	Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31345000-31435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:31345200-31354600	Weak transcription	HepG2	liver
3	chr14:31345200-31369200	Weak transcription	Pancreas	Pancrea
4	chr14:31345400-31354400	Weak transcription	Brain Germinal Matrix	brain
5	chr14:31345400-31355200	Weak transcription	Fetal Brain Female	brain
6	chr14:31345400-31363800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr14:31345400-31382600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:31346000-31354200	Strong transcription	K562	blood
9	chr14:31346000-31358200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:31346200-31362800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:31346400-31362600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr14:31346600-31364200	Weak transcription	Fetal Muscle Leg	muscle
13	chr14:31346600-31382600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr14:31347000-31352800	Weak transcription	GM12878-XiMat	blood
15	chr14:31347000-31355400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:31347000-31384600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:31347000-31394800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:31347200-31362800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr14:31347600-31355000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:31347600-31363800	Weak transcription	Brain Anterior Caudate	brain
21	chr14:31348000-31372600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:31348200-31376800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:31348600-31360400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:31349200-31362600	Weak transcription	Brain Substantia Nigra	brain
25	chr14:31350000-31355000	Weak transcription	A549	lung
26	chr14:31350200-31353600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:31350200-31363800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:31350200-31377800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr14:31350400-31363800	Weak transcription	Adipose Nuclei	Adipose
30	chr14:31350800-31363200	Weak transcription	NH-A	brain
31	chr14:31351200-31358200	Weak transcription	HSMM	muscle
32	chr14:31351400-31351600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr14:31351400-31362600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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