Variant report

Variant	rs7786439
Chromosome Location	chr7:150550392-150550393
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150546933..150549270-chr7:150550109..150551654,2	K562	blood:

Variant related genes	Relation type
ENSG00000002726	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1005389	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1005390	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10156191	0.95[ASN][1000 genomes]
rs10273373	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2052129	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2071513	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2268998	0.97[ASN][1000 genomes]
rs2268999	0.97[ASN][1000 genomes]
rs2373876	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7786420	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7786526	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv2758140	chr7:150538821-150663697	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv2759574	chr7:150538821-150663697	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS 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	13 gene(s)	inside rSNPs	diseases
8	nsv1031497	chr7:150547113-150572570	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1029395	chr7:150547113-150574552	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7786439	TMEM176A	cis	Heart Left Ventricle	GTEx
rs7786439	TMEM176B	cis	Heart Left Ventricle	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150539600-150553800	Weak transcription	Liver	Liver
2	chr7:150543200-150551200	Weak transcription	Fetal Lung	lung
3	chr7:150543200-150557600	Weak transcription	Right Atrium	heart
4	chr7:150548600-150550400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:150549400-150550600	Active TSS	Fetal Intestine Large	intestine
6	chr7:150549400-150550600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr7:150549400-150551200	Active TSS	Duodenum Mucosa	Duodenum
8	chr7:150549600-150550400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
9	chr7:150549600-150550400	Active TSS	Fetal Kidney	kidney
10	chr7:150549600-150550400	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr7:150549600-150550400	Active TSS	Rectal Smooth Muscle	rectum
12	chr7:150549600-150550600	Active TSS	Fetal Intestine Small	intestine
13	chr7:150549600-150553600	Weak transcription	Spleen	Spleen
14	chr7:150549800-150557400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:150549800-150558400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:150550000-150550400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr7:150550000-150550400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:150550000-150550400	Flanking Active TSS	Stomach Mucosa	stomach
19	chr7:150550000-150551200	Weak transcription	Placenta	Placenta
20	chr7:150550000-150551600	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:150550000-150552400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:150550000-150557400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:150550200-150550400	Flanking Active TSS	Colonic Mucosa	Colon
24	chr7:150550200-150550400	Enhancers	Sigmoid Colon	Sigmoid Colon

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