Variant report

Variant	rs11848279
Chromosome Location	chr14:24848281-24848282
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24845008..24848281-chr14:24897427..24900354,3	K562	blood:
2	chr14:24847163..24849658-chr14:24851937..24853825,2	K562	blood:
3	chr14:24827418..24850855-chr14:24894884..24913772,127	MCF-7	breast:
4	chr14:24816528..24849574-chr14:24893305..24914155,145	MCF-7	breast:
5	chr14:24834750..24838595-chr14:24847271..24849265,3	K562	blood:
6	chr14:24846954..24848829-chr14:24870424..24872056,2	K562	blood:
7	chr14:24846831..24848567-chr14:24880238..24882282,2	MCF-7	breast:
8	chr14:24803819..24806463-chr14:24847072..24848641,2	MCF-7	breast:
9	chr14:24844289..24846270-chr14:24846391..24850331,3	MCF-7	breast:
10	chr14:24842116..24850865-chr14:24857760..24868159,21	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000129467	Chromatin interaction
ENSG00000100968	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000205978	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000139899	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10362	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2228233	0.95[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.83[ASN][1000 genomes]
rs6573766	0.80[ASW][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes]
rs8008583	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs11848279	IRF9	cis	parietal	SCAN
rs11848279	OR9G4	trans	parietal	SCAN
rs11848279	OR6S1	cis	cerebellum	SCAN
rs11848279	NYNRIN	cis	cerebellum	SCAN
rs11848279	NFATC4	cis	cerebellum	SCAN
rs11848279	CMA1	cis	cerebellum	SCAN
rs11848279	TMEM55B	cis	cerebellum	SCAN
rs11848279	TGM1	cis	cerebellum	SCAN
rs11848279	ADCY4	cis	cerebellum	SCAN
rs11848279	REC8	cis	lymphoblastoid	seeQTL

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24838200-24850200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:24838800-24849600	Weak transcription	Fetal Brain Female	brain
3	chr14:24838800-24850600	Weak transcription	Fetal Kidney	kidney
4	chr14:24841800-24848400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:24842600-24848400	Strong transcription	Osteobl	bone
6	chr14:24842600-24852400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:24843000-24851200	Weak transcription	Adipose Nuclei	Adipose
8	chr14:24846200-24848400	Genic enhancers	Fetal Intestine Small	intestine
9	chr14:24846200-24849000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:24846200-24850400	Enhancers	Fetal Intestine Large	intestine
11	chr14:24846400-24849200	Enhancers	Esophagus	oesophagus
12	chr14:24846600-24848600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:24846600-24849800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:24846600-24849800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:24846600-24850000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:24846600-24850800	Weak transcription	Fetal Lung	lung
17	chr14:24846800-24849400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:24846800-24851000	Weak transcription	HUVEC	blood vessel
19	chr14:24847000-24848400	Strong transcription	Fetal Muscle Leg	muscle
20	chr14:24847000-24849400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:24847000-24850200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr14:24847000-24859600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:24847200-24848400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr14:24847200-24848400	Strong transcription	Fetal Stomach	stomach
25	chr14:24847200-24848600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:24847200-24848600	Strong transcription	Stomach Smooth Muscle	stomach
27	chr14:24847200-24848800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:24847200-24849000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr14:24847200-24849600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:24847200-24849800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr14:24847200-24850400	Weak transcription	Placenta	Placenta
32	chr14:24847200-24850800	Weak transcription	Spleen	Spleen
33	chr14:24847200-24850800	Weak transcription	NHDF-Ad	bronchial
34	chr14:24847200-24857600	Weak transcription	Ovary	ovary
35	chr14:24847400-24848800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:24847400-24848800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr14:24847400-24849400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr14:24847400-24849400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr14:24847400-24849800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr14:24847400-24857800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:24847600-24848400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr14:24847600-24849200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:24847600-24850000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:24847600-24854600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr14:24847800-24848600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:24847800-24848600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:24847800-24848600	Bivalent Enhancer	HepG2	liver
48	chr14:24847800-24850400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr14:24847800-24857400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:24848000-24848400	Enhancers	Pancreas	Pancrea

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