Variant report

Variant	rs7123107
Chromosome Location	chr11:47424072-47424073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47420444..47424832-chr11:47425633..47430159,5	MCF-7	breast:
2	chr11:47397121..47400538-chr11:47420513..47424481,4	K562	blood:

Variant related genes	Relation type
ENSG00000066336	Chromatin interaction
ENSG00000165915	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11039213	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11570119	1.00[AMR][1000 genomes]
rs12099130	1.00[AMR][1000 genomes]
rs12099427	1.00[AMR][1000 genomes]
rs2010519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2019870	0.97[AFR][1000 genomes]
rs2053978	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2176403	1.00[AMR][1000 genomes]
rs2233354	1.00[EUR][1000 genomes]
rs34037785	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35976340	1.00[AMR][1000 genomes]
rs4486587	1.00[EUR][1000 genomes]
rs4647717	1.00[AMR][1000 genomes]
rs4647745	1.00[AMR][1000 genomes]
rs57572703	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58880275	1.00[AMR][1000 genomes]
rs59693089	1.00[AMR][1000 genomes]
rs59726655	1.00[AMR][1000 genomes]
rs60183400	1.00[AMR][1000 genomes]
rs60580032	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6416137	1.00[EUR][1000 genomes]
rs6485760	1.00[EUR][1000 genomes]
rs7105845	1.00[EUR][1000 genomes]
rs7950077	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs896814	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs908597	1.00[AMR][1000 genomes]
rs963331	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer 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 miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv554210	chr11:47380593-47449544	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
8	nsv541034	chr11:47404083-47440081	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
9	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47422200-47428800	Weak transcription	NH-A	brain
2	chr11:47422400-47428800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:47422400-47429000	Weak transcription	Fetal Brain Female	brain
4	chr11:47422600-47424600	Weak transcription	HepG2	liver
5	chr11:47422600-47429000	Weak transcription	HSMMtube	muscle
6	chr11:47422800-47424800	Weak transcription	Spleen	Spleen
7	chr11:47422800-47425000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:47422800-47428200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:47422800-47428200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:47422800-47428400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr11:47422800-47428400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:47422800-47428400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:47422800-47428400	Weak transcription	Fetal Muscle Leg	muscle
14	chr11:47422800-47428600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:47422800-47428800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:47422800-47428800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:47422800-47429000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:47422800-47429000	Weak transcription	Brain Angular Gyrus	brain
19	chr11:47423000-47428200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:47423000-47428400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:47423000-47428400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:47423000-47428400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:47423000-47428400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:47423000-47428400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:47423000-47428400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:47423000-47428400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:47423000-47428400	Weak transcription	Hela-S3	cervix
28	chr11:47423000-47428600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:47423000-47428600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:47423000-47428600	Weak transcription	Brain Substantia Nigra	brain
31	chr11:47423000-47428800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:47423000-47428800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:47423200-47424200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr11:47423200-47428200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:47423200-47428400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr11:47423200-47428400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr11:47423200-47428600	Weak transcription	Fetal Heart	heart
38	chr11:47423400-47424400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr11:47423400-47424400	Weak transcription	K562	blood
40	chr11:47423400-47424600	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr11:47423400-47424600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr11:47423400-47425000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:47423400-47428600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:47423600-47424600	Weak transcription	Primary B cells from cord blood	blood
45	chr11:47423600-47424800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr11:47423600-47428200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr11:47423600-47428400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr11:47423600-47428400	Weak transcription	GM12878-XiMat	blood
49	chr11:47423600-47428600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:47423800-47424200	Weak transcription	Primary hematopoietic stem cells	blood

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