Variant report

Variant	rs7979355
Chromosome Location	chr12:59259460-59259461
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10877176	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10877177	0.81[AFR][1000 genomes]
rs10877178	0.93[EUR][1000 genomes]
rs10877179	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172770	0.91[EUR][1000 genomes]
rs11172772	0.93[EUR][1000 genomes]
rs11172789	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12227707	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12367032	0.93[EUR][1000 genomes]
rs6581221	0.93[EUR][1000 genomes]
rs7305422	0.84[EUR][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	esv2758311	chr12:59022729-59323045	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS 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	12 gene(s)	inside rSNPs	diseases
2	esv2759902	chr12:59022729-59323045	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1038273	chr12:59232371-59259628	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3440532	chr12:59244734-59266539	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59243200-59263600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:59245200-59260000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:59251000-59266400	Weak transcription	Esophagus	oesophagus
4	chr12:59251200-59261800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:59251400-59261400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:59251800-59263400	Weak transcription	NHEK	skin
7	chr12:59252200-59259800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:59253000-59270200	Weak transcription	Fetal Brain Male	brain
9	chr12:59253400-59265400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:59254400-59260000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:59254400-59261600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:59254600-59262000	Weak transcription	Osteobl	bone
13	chr12:59254600-59268600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:59254800-59262200	Weak transcription	Stomach Mucosa	stomach
15	chr12:59254800-59266400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:59254800-59267000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:59255000-59265400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:59255000-59267400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:59255200-59259800	Weak transcription	Fetal Stomach	stomach
20	chr12:59255200-59263400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr12:59255400-59267000	Weak transcription	Pancreas	Pancrea
22	chr12:59256000-59261400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:59256200-59261800	Weak transcription	NHLF	lung
24	chr12:59256200-59266400	Weak transcription	Left Ventricle	heart
25	chr12:59256400-59261800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:59256400-59262200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:59256400-59262400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:59256600-59266400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr12:59256800-59263600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:59257000-59259600	Weak transcription	Fetal Intestine Small	intestine
31	chr12:59257000-59260000	Weak transcription	Fetal Intestine Large	intestine
32	chr12:59257000-59270800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:59257400-59264600	Strong transcription	NHDF-Ad	bronchial
34	chr12:59257600-59263400	Weak transcription	A549	lung
35	chr12:59257600-59266600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:59257800-59262600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:59257800-59265400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:59258000-59266400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:59258000-59266800	Weak transcription	Psoas Muscle	Psoas
40	chr12:59258000-59267000	Weak transcription	Gastric	stomach
41	chr12:59258000-59267200	Weak transcription	Aorta	Aorta
42	chr12:59258200-59260000	Weak transcription	Fetal Muscle Leg	muscle
43	chr12:59258200-59261400	Weak transcription	NH-A	brain
44	chr12:59258400-59260600	Weak transcription	HUVEC	blood vessel
45	chr12:59258400-59261800	Weak transcription	Fetal Lung	lung
46	chr12:59258600-59260000	Weak transcription	Adipose Nuclei	Adipose
47	chr12:59258600-59261400	Weak transcription	Fetal Kidney	kidney
48	chr12:59258600-59261600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:59258600-59267000	Weak transcription	Lung	lung
50	chr12:59258800-59260000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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