Variant report

Variant	rs11042323
Chromosome Location	chr11:9403948-9403949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9400713..9404382-chr11:9404774..9408112,4	MCF-7	breast:
2	chr11:9400809..9404284-chr11:9404450..9406324,3	K562	blood:
3	chr11:9401126..9404060-chr11:9404691..9408093,3	MCF-7	breast:
4	chr11:9402784..9404391-chr11:9404476..9406126,2	K562	blood:
5	chr11:9384832..9388447-chr11:9401739..9404383,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205339	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10128708	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11042308	0.84[AMR][1000 genomes]
rs11042310	0.84[AMR][1000 genomes]
rs11042318	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11042324	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11042325	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11042346	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11042361	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11042363	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11042365	0.85[AMR][1000 genomes]
rs11601068	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12272069	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12275828	0.92[AMR][1000 genomes]
rs12276413	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12279202	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12282862	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12286949	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12291406	0.84[AMR][1000 genomes]
rs12294461	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16906804	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28463550	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34485398	1.00[AMR][1000 genomes]
rs36048375	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4910052	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4910463	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55750964	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9971482	0.84[AMR][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	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv508617	chr11:9314027-9408562	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11042323	TMEM41B	cis	brain	BrainEAC
rs11042323	ZNF143	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9386800-9406000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:9398200-9405800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:9398600-9405800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:9399000-9405800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:9400800-9406000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:9401200-9405800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:9401200-9406000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:9402200-9405600	Weak transcription	Left Ventricle	heart
9	chr11:9402800-9405800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:9402800-9405800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:9402800-9405800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:9402800-9405800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:9402800-9405800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:9402800-9405800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:9402800-9405800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:9402800-9405800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:9402800-9405800	Weak transcription	A549	lung
18	chr11:9402800-9405800	Weak transcription	NHDF-Ad	bronchial
19	chr11:9402800-9405800	Weak transcription	NHEK	skin
20	chr11:9403000-9405400	Weak transcription	Fetal Heart	heart
21	chr11:9403000-9405800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:9403000-9405800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:9403000-9405800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:9403000-9405800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:9403200-9405800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr11:9403200-9405800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:9403400-9405800	Weak transcription	Fetal Intestine Large	intestine
28	chr11:9403400-9405800	Weak transcription	Fetal Intestine Small	intestine
29	chr11:9403400-9405800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr11:9403400-9405800	Enhancers	HepG2	liver

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