Variant report

Variant	rs27171
Chromosome Location	chr5:58618889-58618890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:58618629..58620597-chr5:58633400..58635092,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs37353	0.81[CHB][hapmap]

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	nsv598252	chr5:58487764-58618889	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1030117	chr5:58587672-58637179	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2760953	chr5:58609468-58620440	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs27171	DEPDC1B	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58612800-58627200	Weak transcription	Aorta	Aorta
2	chr5:58613600-58626600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:58613600-58628600	Weak transcription	Gastric	stomach
4	chr5:58613800-58619800	Weak transcription	Psoas Muscle	Psoas
5	chr5:58613800-58622600	Weak transcription	Fetal Brain Female	brain
6	chr5:58614000-58624600	Weak transcription	Fetal Stomach	stomach
7	chr5:58616200-58623000	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:58616200-58624600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:58616800-58619000	Enhancers	Duodenum Mucosa	Duodenum
10	chr5:58616800-58619200	Enhancers	Fetal Kidney	kidney
11	chr5:58616800-58619200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr5:58616800-58621600	Enhancers	Fetal Heart	heart
13	chr5:58617000-58619200	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr5:58617000-58620200	Enhancers	Colon Smooth Muscle	Colon
15	chr5:58617200-58622600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:58617400-58619200	Enhancers	Hela-S3	cervix
17	chr5:58617400-58620000	Enhancers	A549	lung
18	chr5:58617600-58624600	Weak transcription	Left Ventricle	heart
19	chr5:58618000-58619400	Enhancers	Fetal Intestine Large	intestine
20	chr5:58618400-58619000	Enhancers	Fetal Intestine Small	intestine
21	chr5:58618600-58619200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:58618600-58620000	Weak transcription	Fetal Lung	lung
23	chr5:58618600-58624600	Weak transcription	Right Atrium	heart
24	chr5:58618800-58619400	Enhancers	Fetal Brain Male	brain
25	chr5:58618800-58619800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr5:58618800-58619800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr5:58618800-58623200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:58618800-58624400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:58618800-58629000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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