Variant report

Variant	rs1569848
Chromosome Location	chr14:37116358-37116359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:37111085..37113026-chr14:37114318..37117125,2	MCF-7	breast:
2	chr14:37115106..37119062-chr14:37125097..37130192,4	K562	blood:
3	chr14:37107177..37110095-chr14:37113473..37116981,4	MCF-7	breast:
4	chr14:37115811..37118059-chr14:37119729..37122052,2	K562	blood:
5	chr14:37113935..37116645-chr14:37128692..37132935,3	K562	blood:
6	chr14:37115310..37117842-chr14:37618181..37620146,4	MCF-7	breast:
7	chr14:37113050..37116916-chr14:37130582..37134618,6	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC25A21-1	chr14:37116288-37118642	ENSG00000258661.1

No data

Variant related genes	Relation type
ENSG00000198807	Chromatin interaction
ENSG00000258661	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12589888	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1569849	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs723616	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917279	chr14:36953511-37146655	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv949612	chr14:36996206-37121633	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	esv3523585	chr14:37115226-37118074	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3523596	chr14:37115226-37118074	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1569848	SSTR1	cis	parietal	SCAN
rs1569848	RP11-964E11.2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37114800-37118200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:37115800-37117600	Active TSS	Esophagus	oesophagus
3	chr14:37116000-37116400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
4	chr14:37116000-37116400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:37116000-37116400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
6	chr14:37116000-37116400	Bivalent/Poised TSS	NHEK	skin
7	chr14:37116000-37116600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr14:37116000-37116800	Enhancers	Gastric	stomach
9	chr14:37116000-37117600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:37116000-37117600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr14:37116000-37117600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:37116000-37117600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:37116000-37117800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr14:37116000-37117800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:37116000-37117800	Bivalent/Poised TSS	Fetal Thymus	thymus
16	chr14:37116000-37118000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr14:37116000-37118000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
18	chr14:37116000-37118000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr14:37116000-37118000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr14:37116000-37118000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr14:37116200-37116400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:37116200-37116400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
23	chr14:37116200-37116400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:37116200-37116400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:37116200-37116400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:37116200-37116400	Bivalent Enhancer	Brain Anterior Caudate	brain
27	chr14:37116200-37116400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
28	chr14:37116200-37116400	Bivalent Enhancer	Brain Hippocampus Middle	brain
29	chr14:37116200-37116400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
30	chr14:37116200-37116400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
31	chr14:37116200-37116400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
32	chr14:37116200-37116400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
33	chr14:37116200-37116400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr14:37116200-37116400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
35	chr14:37116200-37116400	Bivalent/Poised TSS	Lung	lung
36	chr14:37116200-37116400	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
37	chr14:37116200-37116400	Bivalent/Poised TSS	Right Ventricle	heart
38	chr14:37116200-37116600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:37116200-37116600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:37116200-37116600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr14:37116200-37116600	Bivalent/Poised TSS	Colonic Mucosa	Colon
42	chr14:37116200-37116600	Bivalent/Poised TSS	Psoas Muscle	Psoas
43	chr14:37116200-37116600	Active TSS	Right Atrium	heart
44	chr14:37116200-37116600	Bivalent/Poised TSS	Osteobl	bone
45	chr14:37116200-37116800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr14:37116200-37116800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr14:37116200-37116800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
48	chr14:37116200-37116800	Bivalent Enhancer	Colon Smooth Muscle	Colon
49	chr14:37116200-37116800	Bivalent Enhancer	Stomach Mucosa	stomach
50	chr14:37116200-37117000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin

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