Variant report

Variant	rs10056291
Chromosome Location	chr5:116070510-116070511
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10041042	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs10054005	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478305	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1076985	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11241401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17299416	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2087872	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28432235	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763490	chr5:115918339-116138525	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830456	chr5:115969066-116170718	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv527974	chr5:115987168-116303678	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv462403	chr5:115994775-116284378	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv599485	chr5:115994775-116284378	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1030056	chr5:116008971-116278725	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1033140	chr5:116035131-116314673	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116068000-116071000	Enhancers	Colon Smooth Muscle	Colon
2	chr5:116068200-116070600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:116068400-116076600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:116068800-116071200	Enhancers	Rectal Smooth Muscle	rectum
5	chr5:116069000-116071200	Enhancers	Fetal Lung	lung
6	chr5:116069200-116071200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:116069400-116070600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:116069400-116070600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:116069400-116070600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:116069400-116070800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:116069400-116070800	Enhancers	Brain Cingulate Gyrus	brain
12	chr5:116069400-116071000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:116069400-116071200	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr5:116069400-116071400	Enhancers	Fetal Heart	heart
15	chr5:116069600-116070600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr5:116069600-116070600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr5:116069600-116070600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:116069600-116070800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:116069600-116070800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:116069600-116071000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:116069600-116071000	Enhancers	Fetal Muscle Leg	muscle
22	chr5:116069600-116071000	Enhancers	Fetal Stomach	stomach
23	chr5:116069600-116071000	Enhancers	Right Ventricle	heart
24	chr5:116069600-116071000	Enhancers	Small Intestine	intestine
25	chr5:116069600-116071200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:116069800-116070600	Enhancers	Fetal Muscle Trunk	muscle
27	chr5:116069800-116070600	Enhancers	Placenta	Placenta
28	chr5:116069800-116070600	Enhancers	Left Ventricle	heart
29	chr5:116069800-116070800	Enhancers	Brain Substantia Nigra	brain
30	chr5:116070000-116070600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr5:116070000-116070600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:116070000-116070600	Enhancers	Esophagus	oesophagus
33	chr5:116070000-116070600	Enhancers	Lung	lung
34	chr5:116070000-116070800	Enhancers	Fetal Brain Male	brain
35	chr5:116070200-116070600	Enhancers	Brain Hippocampus Middle	brain
36	chr5:116070200-116070600	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr5:116070200-116070600	Weak transcription	Fetal Brain Female	brain
38	chr5:116070200-116070600	Enhancers	Pancreas	Pancrea
39	chr5:116070200-116070600	Enhancers	Right Atrium	heart
40	chr5:116070200-116073800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:116070200-116074000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr5:116070400-116071200	Enhancers	Brain Anterior Caudate	brain
43	chr5:116070400-116071200	Enhancers	Stomach Smooth Muscle	stomach
44	chr5:116070400-116071400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:116070400-116074000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:116070400-116074200	Weak transcription	Ovary	ovary
47	chr5:116070400-116074800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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