Variant report

Variant	rs7129948
Chromosome Location	chr11:47661498-47661499
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47660831..47663188-chr11:47962801..47965480,2	K562	blood:
2	chr11:47660743..47662346-chr11:47776631..47779336,2	MCF-7	breast:
3	chr11:47648151..47655137-chr11:47656071..47661932,11	K562	blood:
4	chr11:47660129..47661788-chr11:47662493..47664105,2	MCF-7	breast:
5	chr11:47599811..47601701-chr11:47661212..47663329,2	K562	blood:
6	chr11:47586161..47588765-chr11:47660200..47662976,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109919	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000110536	Chromatin interaction
ENSG00000123444	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11039322	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56096002	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60137857	0.80[EUR][1000 genomes]
rs60793725	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7930612	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7931221	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv469858	chr11:47647515-47837172	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	esv3424537	chr11:47660545-47663980	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47637600-47663200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47638000-47661800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:47638200-47661600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:47638200-47661600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:47638800-47661600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:47639000-47662600	Weak transcription	Stomach Mucosa	stomach
7	chr11:47641800-47661600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:47642000-47661800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:47644000-47661600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:47646800-47662600	Weak transcription	Aorta	Aorta
11	chr11:47648200-47662800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:47648200-47663200	Weak transcription	Gastric	stomach
13	chr11:47648400-47662800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:47649200-47662600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:47653400-47661600	Weak transcription	Pancreas	Pancrea
16	chr11:47653400-47662600	Weak transcription	Psoas Muscle	Psoas
17	chr11:47653600-47662200	Weak transcription	Fetal Brain Male	brain
18	chr11:47653600-47662200	Weak transcription	Fetal Heart	heart
19	chr11:47653800-47662400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:47655200-47661600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:47655400-47661600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:47655600-47661600	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr11:47656000-47662600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr11:47656200-47662800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:47656800-47662800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:47657000-47662400	Weak transcription	Spleen	Spleen
27	chr11:47657000-47662600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:47657000-47663200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:47657000-47663200	Weak transcription	Esophagus	oesophagus
30	chr11:47657200-47662000	Weak transcription	Fetal Brain Female	brain
31	chr11:47657200-47662200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr11:47657200-47662400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:47657200-47662400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr11:47657200-47662800	Weak transcription	Colon Smooth Muscle	Colon
35	chr11:47657200-47663400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr11:47657800-47662400	Weak transcription	Right Ventricle	heart
37	chr11:47658600-47662000	Weak transcription	Small Intestine	intestine
38	chr11:47658600-47662600	Weak transcription	Colonic Mucosa	Colon
39	chr11:47658800-47663200	Weak transcription	Lung	lung
40	chr11:47659800-47662200	Weak transcription	Brain Germinal Matrix	brain
41	chr11:47659800-47662600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr11:47660000-47662400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:47660400-47662000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:47660400-47662200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr11:47660400-47662200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:47660400-47662200	Genic enhancers	Dnd41	blood
47	chr11:47660400-47662400	Weak transcription	NHEK	skin
48	chr11:47660400-47662600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr11:47660600-47662200	Weak transcription	HSMMtube	muscle
50	chr11:47660600-47662400	Weak transcription	Fetal Lung	lung

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