Variant report

Variant	rs11769454
Chromosome Location	chr7:150449750-150449751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150436932..150439245-chr7:150447884..150450201,2	MCF-7	breast:
2	chr7:150018473..150020474-chr7:150448502..150451344,2	MCF-7	breast:
3	chr7:150435460..150438161-chr7:150448156..150450116,2	K562	blood:
4	chr7:150444166..150447613-chr7:150448712..150451496,3	K562	blood:

Variant related genes	Relation type
ENSG00000177590	Chromatin interaction
ENSG00000127399	Chromatin interaction
ENSG00000106526	Chromatin interaction
ENSG00000241134	Chromatin interaction
ENSG00000196329	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10280499	1.00[ASN][1000 genomes]
rs11973400	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17173583	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2058446	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58313703	1.00[ASN][1000 genomes]
rs58803836	1.00[ASN][1000 genomes]
rs59004814	1.00[ASN][1000 genomes]
rs66743416	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965571	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs741069	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9657879	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv2758617	chr7:150251949-150463804	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	esv2759573	chr7:150251949-150463804	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11769454	TMEM176B	cis	Whole Blood	GTEx
rs11769454	TMEM176A	cis	Whole Blood	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150436200-150450200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:150436800-150451400	Weak transcription	Brain Substantia Nigra	brain
3	chr7:150437000-150450000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:150441400-150449800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:150441600-150450200	Weak transcription	Right Atrium	heart
6	chr7:150442200-150450000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr7:150442400-150449800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr7:150442400-150454600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr7:150442800-150450000	Weak transcription	Dnd41	blood
10	chr7:150443000-150452200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:150443200-150450000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:150443200-150451200	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr7:150443200-150452200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:150443200-150452400	Weak transcription	Spleen	Spleen
15	chr7:150444600-150452200	Enhancers	Primary T cells from cord blood	blood
16	chr7:150445400-150452000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:150445600-150452200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr7:150445800-150450000	Weak transcription	Fetal Thymus	thymus
19	chr7:150446000-150450200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr7:150446200-150450000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:150446200-150451400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr7:150446200-150452200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr7:150446600-150450000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr7:150447200-150450000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr7:150447600-150450000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:150447600-150451000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:150448600-150452400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr7:150448800-150454200	Enhancers	Fetal Heart	heart
29	chr7:150449000-150454000	Enhancers	GM12878-XiMat	blood
30	chr7:150449200-150450000	Weak transcription	Adipose Nuclei	Adipose
31	chr7:150449400-150449800	Weak transcription	Left Ventricle	heart
32	chr7:150449400-150461000	Weak transcription	Liver	Liver
33	chr7:150449600-150450000	Weak transcription	Right Ventricle	heart

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