Variant report

Variant	rs4938716
Chromosome Location	chr11:119576555-119576556
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:119571255..119574750-chr11:119575063..119576895,3	MCF-7	breast:
2	chr11:119568589..119571498-chr11:119574354..119576763,2	MCF-7	breast:
3	chr11:119576493..119579043-chr11:119584398..119586423,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2006949	0.86[ASN][1000 genomes]
rs7924573	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898421	chr11:119499014-119631325	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv898422	chr11:119518006-119601779	Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv898423	chr11:119541332-119659753	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv468880	chr11:119564496-119588062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv556471	chr11:119564496-119588062	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1051769	chr11:119572865-119630769	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4938716	ARCN1	cis	parietal	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119561000-119580600	Weak transcription	Fetal Kidney	kidney
2	chr11:119561800-119577600	Enhancers	Brain Hippocampus Middle	brain
3	chr11:119562000-119578400	Enhancers	Duodenum Mucosa	Duodenum
4	chr11:119563200-119578400	Genic enhancers	Fetal Intestine Small	intestine
5	chr11:119564200-119578400	Enhancers	Fetal Intestine Large	intestine
6	chr11:119565200-119582600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:119567400-119576600	Weak transcription	Fetal Heart	heart
8	chr11:119567400-119579000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:119568000-119580600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:119568400-119580600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:119568400-119587000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:119568600-119580600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:119568600-119580600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr11:119568600-119590400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:119568800-119576800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:119570000-119579200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr11:119571800-119576600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr11:119571800-119579600	Weak transcription	NH-A	brain
19	chr11:119571800-119580000	Weak transcription	Colonic Mucosa	Colon
20	chr11:119572200-119577800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr11:119572600-119592000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr11:119572800-119577600	Weak transcription	Right Ventricle	heart
23	chr11:119572800-119580000	Weak transcription	Lung	lung
24	chr11:119573000-119577600	Weak transcription	HepG2	liver
25	chr11:119573000-119578000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:119573000-119591800	Weak transcription	Left Ventricle	heart
27	chr11:119573200-119580600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:119573400-119576600	Weak transcription	Fetal Brain Female	brain
29	chr11:119573600-119578200	Weak transcription	Adipose Nuclei	Adipose
30	chr11:119573800-119576800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:119573800-119576800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:119573800-119579600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:119574000-119576800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:119574000-119580000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:119574000-119583200	Weak transcription	Placenta	Placenta
36	chr11:119574000-119597200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:119574200-119576800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:119574200-119577000	Weak transcription	Brain Angular Gyrus	brain
39	chr11:119574200-119579600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:119574200-119580000	Weak transcription	HSMM	muscle
41	chr11:119574200-119580200	Weak transcription	Spleen	Spleen
42	chr11:119574400-119576800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:119574400-119579800	Weak transcription	Fetal Muscle Leg	muscle
44	chr11:119574600-119577600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:119574800-119576800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:119574800-119576800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr11:119574800-119577600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr11:119574800-119580000	Weak transcription	Brain Anterior Caudate	brain
49	chr11:119575000-119576800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr11:119575000-119577000	Weak transcription	Brain Substantia Nigra	brain

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