Variant report

Variant	rs56407231
Chromosome Location	chr5:16762024-16762025
allele	A/C
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]
rs10051929	0.84[ASN][1000 genomes]
rs10053767	0.84[ASN][1000 genomes]
rs10072648	0.84[ASN][1000 genomes]
rs12520877	0.84[ASN][1000 genomes]
rs34833986	0.84[ASN][1000 genomes]
rs62369287	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62369288	0.84[ASN][1000 genomes]
rs6554945	0.86[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	nsv869660	chr5:16651289-16766428	Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv880373	chr5:16710572-16785604	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3529928	chr5:16748426-16856563	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	esv3529929	chr5:16748426-16856563	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv1030550	chr5:16748966-16872084	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16736400-16781400	Weak transcription	Esophagus	oesophagus
2	chr5:16736800-16762400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:16737000-16780400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:16741200-16782000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:16742400-16773400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:16742800-16767800	Weak transcription	Fetal Brain Female	brain
7	chr5:16743600-16777600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:16744800-16776800	Weak transcription	Left Ventricle	heart
9	chr5:16746000-16778200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:16748600-16783800	Weak transcription	Small Intestine	intestine
11	chr5:16749200-16770200	Strong transcription	HSMMtube	muscle
12	chr5:16749400-16766600	Strong transcription	A549	lung
13	chr5:16752800-16766400	Strong transcription	HMEC	breast
14	chr5:16752800-16770200	Strong transcription	Fetal Muscle Leg	muscle
15	chr5:16754400-16766600	Strong transcription	NH-A	brain
16	chr5:16754400-16766800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:16754400-16767200	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr5:16754600-16766600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:16754800-16771000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:16754800-16771400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:16755000-16762400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:16755000-16775000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:16755200-16771000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:16755200-16776400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:16755200-16795400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:16755400-16766600	Strong transcription	Lung	lung
27	chr5:16755800-16771200	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr5:16756200-16763200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:16756200-16770600	Strong transcription	Fetal Stomach	stomach
30	chr5:16756400-16762800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr5:16756800-16768400	Weak transcription	Fetal Kidney	kidney
32	chr5:16757000-16762200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:16757000-16770000	Weak transcription	Liver	Liver
34	chr5:16757600-16796800	Weak transcription	Right Ventricle	heart
35	chr5:16757800-16766400	Strong transcription	Osteobl	bone
36	chr5:16758000-16766800	Strong transcription	HUVEC	blood vessel
37	chr5:16758000-16768600	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr5:16758000-16771000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:16758200-16764800	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:16758200-16766400	Strong transcription	HSMM	muscle
41	chr5:16758200-16766800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:16758400-16779200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr5:16758600-16764000	Weak transcription	Stomach Mucosa	stomach
44	chr5:16758800-16771400	Strong transcription	Fetal Intestine Small	intestine
45	chr5:16759000-16763400	Weak transcription	Spleen	Spleen
46	chr5:16759000-16766800	Strong transcription	Fetal Intestine Large	intestine
47	chr5:16759800-16763000	Weak transcription	Fetal Brain Male	brain
48	chr5:16759800-16764000	Weak transcription	Aorta	Aorta
49	chr5:16759800-16766600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:16759800-16774200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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