Variant report

Variant	rs4334315
Chromosome Location	chr16:79756197-79756198
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:79748215..79750432-chr16:79755525..79757544,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17689625	0.86[AFR][1000 genomes]
rs17767742	0.85[AFR][1000 genomes]
rs17767904	0.85[AFR][1000 genomes]
rs3813580	0.83[AFR][1000 genomes]
rs3813582	0.83[AFR][1000 genomes]
rs4575545	0.83[ASN][1000 genomes]
rs57652769	0.82[AFR][1000 genomes]
rs58722186	0.87[AFR][1000 genomes]
rs73575083	0.83[AFR][1000 genomes]
rs73575085	0.83[AFR][1000 genomes]
rs73575086	0.83[AFR][1000 genomes]
rs73575095	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv906992	chr16:79649394-79769790	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv833296	chr16:79692236-79889727	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv833297	chr16:79732501-79920419	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv3405164	chr16:79754351-79759149	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4334315	RP11-345M22.2	cis	Thyroid	GTEx
rs4334315	RP11-345M22.2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79748000-79756200	Weak transcription	Gastric	stomach
2	chr16:79748200-79760400	Enhancers	Fetal Intestine Small	intestine
3	chr16:79748400-79760800	Enhancers	Fetal Intestine Large	intestine
4	chr16:79749800-79756400	Weak transcription	Stomach Mucosa	stomach
5	chr16:79752000-79757400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:79752200-79756400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr16:79752400-79757600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr16:79752800-79757800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr16:79754000-79759600	Enhancers	Duodenum Mucosa	Duodenum
10	chr16:79754400-79756200	Enhancers	Liver	Liver
11	chr16:79754400-79756600	Enhancers	Fetal Kidney	kidney
12	chr16:79754600-79756800	Enhancers	Ovary	ovary
13	chr16:79754800-79756200	Enhancers	Colon Smooth Muscle	Colon
14	chr16:79754800-79756600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr16:79755200-79756400	Enhancers	Fetal Muscle Leg	muscle
16	chr16:79755400-79757200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:79755600-79756600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr16:79755800-79756400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr16:79755800-79756600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr16:79756000-79756400	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr16:79756000-79758600	Weak transcription	Fetal Lung	lung

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