Variant report

Variant	rs12112782
Chromosome Location	chr7:150501635-150501636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150488420..150491696-chr7:150501354..150503794,3	MCF-7	breast:
2	chr7:150495928..150500354-chr7:150501130..150505366,6	MCF-7	breast:
3	chr14:103799690..103801722-chr7:150499990..150502552,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100664	Chromatin interaction
ENSG00000002933	Chromatin interaction
ENSG00000106565	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1108578	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11982695	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11982701	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13223879	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13241565	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17173612	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2080054	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35792015	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4463336	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4624940	0.86[EUR][1000 genomes]
rs4725947	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4725948	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55649631	0.83[EUR][1000 genomes]
rs56077833	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6956215	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs741065	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7809861	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9691482	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150498800-150502800	Weak transcription	Gastric	stomach
2	chr7:150498800-150503000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:150499400-150503000	Strong transcription	Ovary	ovary
4	chr7:150499600-150501800	Weak transcription	Pancreas	Pancrea
5	chr7:150499600-150502800	Weak transcription	Esophagus	oesophagus
6	chr7:150499800-150501800	Genic enhancers	Fetal Muscle Trunk	muscle
7	chr7:150499800-150502600	Weak transcription	Brain Anterior Caudate	brain
8	chr7:150500200-150503000	Weak transcription	Brain Substantia Nigra	brain
9	chr7:150500400-150501800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
10	chr7:150500400-150502600	Strong transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:150500600-150502800	Strong transcription	Duodenum Mucosa	Duodenum
12	chr7:150500600-150503600	Weak transcription	Stomach Mucosa	stomach
13	chr7:150501000-150502200	Weak transcription	Right Ventricle	heart
14	chr7:150501000-150502600	Strong transcription	Colonic Mucosa	Colon
15	chr7:150501000-150502800	Strong transcription	Fetal Intestine Small	intestine
16	chr7:150501000-150502800	Strong transcription	Fetal Muscle Leg	muscle
17	chr7:150501000-150502800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:150501000-150502800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr7:150501000-150503000	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:150501000-150503600	Strong transcription	Fetal Intestine Large	intestine
21	chr7:150501200-150501800	Genic enhancers	Liver	Liver
22	chr7:150501400-150502000	ZNF genes & repeats	Spleen	Spleen
23	chr7:150501400-150502600	Strong transcription	Small Intestine	intestine
24	chr7:150501400-150502800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr7:150501400-150503400	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr7:150501400-150503400	ZNF genes & repeats	Fetal Stomach	stomach
27	chr7:150501400-150503600	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr7:150501600-150501800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:150501600-150502800	Weak transcription	Left Ventricle	heart

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