Variant report

Variant	rs741062
Chromosome Location	chr7:150501038-150501039
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr7:150500996-150501070	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150418208..150420407-chr7:150499249..150501046,2	K562	blood:
2	chr14:103799690..103801722-chr7:150499990..150502552,2	MCF-7	breast:

Variant related genes	Relation type
TMEM176B	TF binding region
ENSG00000100664	Chromatin interaction
ENSG00000196329	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11546674	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12668797	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs714884	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs741061	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs741062	LR8	cis	multi-tissue	Pritchard
rs741062	ABP1	cis	multi-tissue	Pritchard
rs741062	TMEM176B	cis	cerebellum	SCAN
rs741062	PRPF38A	trans	cerebellum	SCAN
rs741062	TMEM176A	cis	lymphoblastoid	seeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150498800-150501600	Enhancers	Placenta	Placenta
2	chr7:150498800-150502800	Weak transcription	Gastric	stomach
3	chr7:150498800-150503000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:150499200-150501200	Transcr. at gene 5' and 3'	Liver	Liver
5	chr7:150499400-150503000	Strong transcription	Ovary	ovary
6	chr7:150499600-150501800	Weak transcription	Pancreas	Pancrea
7	chr7:150499600-150502800	Weak transcription	Esophagus	oesophagus
8	chr7:150499800-150501400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
9	chr7:150499800-150501400	Weak transcription	Spleen	Spleen
10	chr7:150499800-150501800	Genic enhancers	Fetal Muscle Trunk	muscle
11	chr7:150499800-150502600	Weak transcription	Brain Anterior Caudate	brain
12	chr7:150500000-150501400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:150500200-150503000	Weak transcription	Brain Substantia Nigra	brain
14	chr7:150500400-150501600	Enhancers	Left Ventricle	heart
15	chr7:150500400-150501800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
16	chr7:150500400-150502600	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:150500600-150501400	Strong transcription	Adipose Nuclei	Adipose
18	chr7:150500600-150501400	Strong transcription	Fetal Stomach	stomach
19	chr7:150500600-150501400	Weak transcription	Small Intestine	intestine
20	chr7:150500600-150502800	Strong transcription	Duodenum Mucosa	Duodenum
21	chr7:150500600-150503600	Weak transcription	Stomach Mucosa	stomach
22	chr7:150501000-150501400	Genic enhancers	Rectal Mucosa Donor 31	rectum
23	chr7:150501000-150502200	Weak transcription	Right Ventricle	heart
24	chr7:150501000-150502600	Strong transcription	Colonic Mucosa	Colon
25	chr7:150501000-150502800	Strong transcription	Fetal Intestine Small	intestine
26	chr7:150501000-150502800	Strong transcription	Fetal Muscle Leg	muscle
27	chr7:150501000-150502800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:150501000-150502800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr7:150501000-150503000	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:150501000-150503600	Strong transcription	Fetal Intestine Large	intestine

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