Variant report

Variant	rs27168
Chromosome Location	chr5:58613132-58613133
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs154221	0.81[CEU][hapmap]
rs244570	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs255651	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs255652	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs255653	0.89[EUR][1000 genomes]

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

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58593200-58613400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:58607800-58616400	Enhancers	Fetal Heart	heart
3	chr5:58610000-58613800	Enhancers	Fetal Muscle Leg	muscle
4	chr5:58611200-58613800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr5:58611800-58613600	Enhancers	HSMMtube	muscle
6	chr5:58612400-58613400	Enhancers	Right Atrium	heart
7	chr5:58612400-58613600	Enhancers	Left Ventricle	heart
8	chr5:58612400-58613600	Enhancers	Right Ventricle	heart
9	chr5:58612400-58613800	Enhancers	Psoas Muscle	Psoas
10	chr5:58612400-58614200	Enhancers	Fetal Kidney	kidney
11	chr5:58612400-58616200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:58612600-58613200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr5:58612600-58613200	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr5:58612600-58613400	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr5:58612600-58613400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr5:58612600-58613400	Enhancers	Placenta	Placenta
17	chr5:58612600-58613600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:58612600-58613600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr5:58612600-58613600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr5:58612600-58613600	Enhancers	Small Intestine	intestine
21	chr5:58612600-58613600	Enhancers	HSMM	muscle
22	chr5:58612600-58613800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:58612600-58613800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:58612600-58613800	Enhancers	Fetal Intestine Large	intestine
25	chr5:58612600-58613800	Enhancers	Ovary	ovary
26	chr5:58612600-58614000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr5:58612600-58614000	Enhancers	Brain Anterior Caudate	brain
28	chr5:58612600-58614000	Enhancers	Brain Hippocampus Middle	brain
29	chr5:58612600-58614000	Enhancers	Fetal Stomach	stomach
30	chr5:58612600-58614200	Enhancers	Fetal Intestine Small	intestine
31	chr5:58612600-58614200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr5:58612600-58614600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:58612600-58615000	Enhancers	Fetal Lung	lung
34	chr5:58612800-58613200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:58612800-58613200	Enhancers	Lung	lung
36	chr5:58612800-58613200	Enhancers	Spleen	Spleen
37	chr5:58612800-58613400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:58612800-58613400	Enhancers	Brain Germinal Matrix	brain
39	chr5:58612800-58613600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr5:58612800-58613600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr5:58612800-58613600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:58612800-58613600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:58612800-58613600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr5:58612800-58613600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr5:58612800-58613600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:58612800-58613600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr5:58612800-58613600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:58612800-58613600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:58612800-58613600	Enhancers	Esophagus	oesophagus
50	chr5:58612800-58613600	Enhancers	Fetal Muscle Trunk	muscle

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