Variant report

Variant	rs17037416
Chromosome Location	chr12:106070018-106070019
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10507196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17037409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4145262	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4284495	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4470000	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58474188	0.91[AMR][1000 genomes];0.86[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	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv899503	chr12:106021477-106175903	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv560054	chr12:106048142-106083042	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1047810	chr12:106067049-106246582	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1040261	chr12:106068992-106246582	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106066600-106070400	Weak transcription	Esophagus	oesophagus
2	chr12:106066600-106070400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:106066600-106070400	Weak transcription	HUVEC	blood vessel
4	chr12:106066600-106070600	Weak transcription	Right Ventricle	heart
5	chr12:106066600-106076800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:106067200-106070200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:106067200-106070600	Weak transcription	Adipose Nuclei	Adipose
8	chr12:106068200-106076200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:106068600-106071400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:106068800-106070600	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr12:106068800-106071400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr12:106069000-106071200	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr12:106069000-106071400	Enhancers	Colon Smooth Muscle	Colon
14	chr12:106069200-106072400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr12:106069400-106072000	Enhancers	Left Ventricle	heart
16	chr12:106069400-106072800	Enhancers	Psoas Muscle	Psoas
17	chr12:106069600-106070600	Weak transcription	Placenta	Placenta
18	chr12:106069600-106071200	Enhancers	Lung	lung
19	chr12:106069600-106071200	Enhancers	Stomach Mucosa	stomach
20	chr12:106069800-106070200	Weak transcription	Fetal Stomach	stomach
21	chr12:106069800-106070200	Weak transcription	Right Atrium	heart
22	chr12:106069800-106070400	Enhancers	Duodenum Mucosa	Duodenum
23	chr12:106069800-106070600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:106069800-106071400	Enhancers	Colonic Mucosa	Colon
25	chr12:106070000-106070400	Weak transcription	Gastric	stomach

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