Variant report

Variant	rs16869348
Chromosome Location	chr5:90318137-90318138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90315172..90318619-chr5:90676163..90681010,4	MCF-7	breast:
2	chr5:90318099..90320077-chr5:90338969..90341886,2	MCF-7	breast:
3	chr5:90316078..90318522-chr5:90323384..90326123,2	K562	blood:
4	chr5:90312914..90314737-chr5:90316544..90319036,2	K562	blood:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16869220	1.00[EUR][1000 genomes]
rs16869223	1.00[EUR][1000 genomes]
rs16869224	1.00[EUR][1000 genomes]
rs16869260	1.00[EUR][1000 genomes]
rs16869357	1.00[EUR][1000 genomes]
rs16869431	1.00[TSI][hapmap]
rs1876632	1.00[EUR][1000 genomes]
rs61145978	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6452943	1.00[TSI][hapmap]

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	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv882369	chr5:90275825-90344149	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90308600-90318400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:90309800-90323200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:90313200-90318200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:90313400-90318400	Weak transcription	A549	lung
5	chr5:90313400-90321600	Weak transcription	Liver	Liver
6	chr5:90313600-90321400	Weak transcription	Small Intestine	intestine
7	chr5:90313800-90320000	Weak transcription	Adipose Nuclei	Adipose
8	chr5:90314000-90319200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:90314200-90319800	Weak transcription	Fetal Stomach	stomach
10	chr5:90314200-90320800	Weak transcription	Fetal Intestine Large	intestine
11	chr5:90314400-90318400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:90314800-90323200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:90314800-90327000	Weak transcription	Gastric	stomach
14	chr5:90315000-90318400	Weak transcription	Fetal Intestine Small	intestine
15	chr5:90315200-90319800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:90315400-90318400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:90316200-90318800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:90316400-90318400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr5:90316600-90323200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:90316800-90318800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:90317000-90323200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:90317000-90325000	Enhancers	Colon Smooth Muscle	Colon
23	chr5:90317400-90318600	Enhancers	Fetal Lung	lung
24	chr5:90317400-90318600	Enhancers	K562	blood
25	chr5:90317400-90318800	Enhancers	Duodenum Mucosa	Duodenum
26	chr5:90317400-90319200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr5:90317600-90324600	Enhancers	Stomach Mucosa	stomach
28	chr5:90317800-90318200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:90317800-90319400	Weak transcription	Psoas Muscle	Psoas
30	chr5:90317800-90323000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:90318000-90318200	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr5:90318000-90318200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr5:90318000-90318600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:90318000-90318600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr5:90318000-90318800	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr5:90318000-90321800	Enhancers	Rectal Smooth Muscle	rectum

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