Variant report

Variant	rs10147939
Chromosome Location	chr14:104378232-104378233
allele	A/C
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104321815..104323849-chr14:104376770..104378345,2	MCF-7	breast:
2	chr14:104377058..104380322-chr14:104382660..104385611,3	MCF-7	breast:
3	chr14:104311401..104315706-chr14:104374803..104378289,8	MCF-7	breast:
4	chr14:104370970..104374376-chr14:104374591..104379019,6	K562	blood:
5	chr14:104272328..104275733-chr14:104376448..104378285,3	MCF-7	breast:
6	chr14:104312523..104316268-chr14:104373150..104378341,6	MCF-7	breast:
7	chr14:104375126..104376640-chr14:104376755..104379317,2	MCF-7	breast:
8	chr14:104159760..104161873-chr14:104375990..104378240,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258735	Chromatin interaction
ENSG00000269910	Chromatin interaction
ENSG00000269940	Chromatin interaction
ENSG00000088808	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10131550	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10141347	0.87[CEU][hapmap];0.95[GIH][hapmap];0.81[EUR][1000 genomes]
rs10141435	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1053419	0.94[ASW][hapmap];0.86[GIH][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs11850704	0.94[ASW][hapmap];0.86[GIH][hapmap];0.81[LWK][hapmap];0.82[MKK][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs11851006	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2104072	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28592682	0.81[EUR][1000 genomes]
rs74086744	0.92[AFR][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	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
7	nsv1042792	chr14:104326137-104384260	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv542207	chr14:104326137-104384260	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1048353	chr14:104361402-104483286	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv902322	chr14:104365310-104464809	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10147939	C14orf2	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104363200-104387000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:104370000-104378600	Weak transcription	Aorta	Aorta
3	chr14:104375000-104385800	Weak transcription	Small Intestine	intestine
4	chr14:104375800-104384200	Strong transcription	Dnd41	blood
5	chr14:104376000-104384800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr14:104376600-104378400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:104376600-104378800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:104376600-104384200	Weak transcription	Right Atrium	heart
9	chr14:104376800-104378400	Weak transcription	GM12878-XiMat	blood
10	chr14:104376800-104378400	Weak transcription	Hela-S3	cervix
11	chr14:104376800-104378800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr14:104376800-104382200	Weak transcription	Pancreas	Pancrea
13	chr14:104376800-104386200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:104376800-104387000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr14:104376800-104387000	Weak transcription	Stomach Mucosa	stomach
16	chr14:104377000-104378600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:104377200-104378400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr14:104377200-104378600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:104377200-104378600	Weak transcription	Fetal Kidney	kidney
20	chr14:104377200-104379800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr14:104377200-104380400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:104377200-104384800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:104377200-104385600	Strong transcription	Fetal Intestine Small	intestine
24	chr14:104377200-104386400	Weak transcription	Fetal Heart	heart
25	chr14:104377200-104386800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr14:104377400-104378400	Strong transcription	NHLF	lung
27	chr14:104377400-104379400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr14:104377400-104379600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:104377400-104380200	Strong transcription	Brain Cingulate Gyrus	brain
30	chr14:104377400-104380200	Strong transcription	Esophagus	oesophagus
31	chr14:104377400-104380400	Strong transcription	Brain Hippocampus Middle	brain
32	chr14:104377400-104380600	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr14:104377400-104380800	Strong transcription	Primary T cells from cord blood	blood
34	chr14:104377400-104381000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr14:104377400-104381000	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr14:104377400-104381000	Strong transcription	Right Ventricle	heart
37	chr14:104377400-104381200	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr14:104377400-104381400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:104377400-104381600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr14:104377400-104381800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr14:104377400-104383000	Strong transcription	Adipose Nuclei	Adipose
42	chr14:104377400-104383200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr14:104377400-104383200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:104377400-104383800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr14:104377400-104384400	Strong transcription	Placenta	Placenta
46	chr14:104377400-104384600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:104377400-104384600	Strong transcription	Primary B cells from peripheral blood	blood
48	chr14:104377400-104384600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr14:104377400-104384600	Strong transcription	Liver	Liver
50	chr14:104377400-104384600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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