Variant report

Variant	rs17101930
Chromosome Location	chr14:104382464-104382465
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:104382228-104382765	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:104380212..104384984-chr14:104386073..104389493,7	MCF-7	breast:

Variant related genes	Relation type
C14orf2	TF binding region
ENSG00000156411	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10131792	1.00[CEU][hapmap];0.89[CHB][hapmap]
rs10142229	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[TSI][hapmap]
rs1053419	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11850704	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12434277	1.00[EUR][1000 genomes]
rs17095276	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17095279	0.82[AMR][1000 genomes]
rs17101928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101937	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17101941	0.87[AMR][1000 genomes]
rs17101944	0.87[AMR][1000 genomes]
rs17101946	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17101950	1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[AMR][1000 genomes]
rs17101951	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes]
rs17101952	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes]
rs17101953	0.82[AMR][1000 genomes]
rs17101955	0.82[AMR][1000 genomes]
rs17101959	0.82[AMR][1000 genomes]
rs2273609	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2295661	0.82[AMR][1000 genomes]
rs28384386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28576742	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3783311	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783312	1.00[GIH][hapmap];0.82[TSI][hapmap]
rs45523439	0.82[AMR][1000 genomes]
rs7140812	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs74086744	1.00[ASN][1000 genomes]
rs74086746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74086758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8014519	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
11	nsv902323	chr14:104381687-104464809	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	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
rs17101930	C14orf2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 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	chr14:104375000-104385800	Weak transcription	Small Intestine	intestine
3	chr14:104375800-104384200	Strong transcription	Dnd41	blood
4	chr14:104376000-104384800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr14:104376600-104384200	Weak transcription	Right Atrium	heart
6	chr14:104376800-104386200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:104376800-104387000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:104376800-104387000	Weak transcription	Stomach Mucosa	stomach
9	chr14:104377200-104384800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:104377200-104385600	Strong transcription	Fetal Intestine Small	intestine
11	chr14:104377200-104386400	Weak transcription	Fetal Heart	heart
12	chr14:104377200-104386800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:104377400-104383000	Strong transcription	Adipose Nuclei	Adipose
14	chr14:104377400-104383200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr14:104377400-104383200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:104377400-104383800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr14:104377400-104384400	Strong transcription	Placenta	Placenta
18	chr14:104377400-104384600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:104377400-104384600	Strong transcription	Primary B cells from peripheral blood	blood
20	chr14:104377400-104384600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr14:104377400-104384600	Strong transcription	Liver	Liver
22	chr14:104377400-104384600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr14:104377400-104384600	Strong transcription	Fetal Intestine Large	intestine
24	chr14:104377400-104384600	Strong transcription	Fetal Muscle Trunk	muscle
25	chr14:104377400-104384600	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr14:104377400-104384800	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr14:104377400-104384800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:104377400-104384800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:104377400-104384800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr14:104377400-104384800	Strong transcription	Thymus	Thymus
31	chr14:104377400-104385200	Strong transcription	Fetal Brain Female	brain
32	chr14:104377400-104385200	Strong transcription	Fetal Muscle Leg	muscle
33	chr14:104377400-104386000	Strong transcription	Fetal Stomach	stomach
34	chr14:104377600-104382600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:104377600-104382800	Strong transcription	Osteobl	bone
36	chr14:104377600-104383600	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr14:104377600-104383800	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr14:104377600-104384200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr14:104377600-104384400	Strong transcription	Spleen	Spleen
40	chr14:104377600-104384600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:104377600-104384600	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr14:104377600-104384600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:104377600-104384600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr14:104377600-104384600	Strong transcription	Stomach Smooth Muscle	stomach
45	chr14:104377600-104384600	Strong transcription	A549	lung
46	chr14:104377600-104384800	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr14:104377600-104384800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr14:104377600-104384800	Strong transcription	Fetal Thymus	thymus
49	chr14:104377600-104385200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:104377800-104384600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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