Variant report

Variant	rs2273609
Chromosome Location	chr14:104387649-104387650
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104194524..104196710-chr14:104385033..104387734,2	MCF-7	breast:
2	chr14:104380212..104384984-chr14:104386073..104389493,7	MCF-7	breast:
3	chr14:104313555..104317821-chr14:104384318..104388009,4	MCF-7	breast:
4	chr14:104386060..104387762-chr14:104425498..104427108,2	MCF-7	breast:
5	chr1:45477949..45478595-chr14:104387345..104388090,2	Hela-S3	cervix:
6	chr14:104385710..104388983-chr14:104393675..104397966,4	MCF-7	breast:
7	chr14:104387417..104388130-chr5:177631502..177632011,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000088808	Chromatin interaction
ENSG00000100711	Chromatin interaction
ENSG00000156411	Chromatin interaction
ENSG00000156414	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000197451	Chromatin interaction
ENSG00000258735	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1053419	0.88[ASN][1000 genomes]
rs11850704	0.88[ASN][1000 genomes]
rs12434277	1.00[EUR][1000 genomes]
rs17095276	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17095279	0.82[AMR][1000 genomes]
rs17101928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17101930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17101937	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17101941	0.87[AMR][1000 genomes]
rs17101944	0.87[AMR][1000 genomes]
rs17101950	0.82[AMR][1000 genomes]
rs17101951	0.82[AMR][1000 genomes]
rs17101952	0.82[AMR][1000 genomes]
rs17101953	0.82[AMR][1000 genomes]
rs17101955	0.82[AMR][1000 genomes]
rs17101959	0.82[AMR][1000 genomes]
rs2295661	0.82[AMR][1000 genomes]
rs28384386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28576742	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783311	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs45523439	0.82[AMR][1000 genomes]
rs7140812	0.96[EUR][1000 genomes]
rs74086744	0.88[ASN][1000 genomes]
rs74086746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74086758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8014519	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
8	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
9	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
rs2273609	C14orf2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104386200-104388400	Active TSS	Hela-S3	cervix
2	chr14:104386400-104387800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:104386600-104388200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:104386800-104387800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr14:104386800-104388000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:104386800-104388000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:104386800-104388000	Active TSS	Fetal Intestine Large	intestine
8	chr14:104386800-104388000	Active TSS	Fetal Intestine Small	intestine
9	chr14:104386800-104388000	Active TSS	Psoas Muscle	Psoas
10	chr14:104386800-104388000	Active TSS	HMEC	breast
11	chr14:104386800-104388200	Active TSS	H1 Cell Line	embryonic stem cell
12	chr14:104386800-104388200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:104386800-104388200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:104386800-104388200	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr14:104386800-104388200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:104386800-104388200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:104386800-104388200	Active TSS	Brain Angular Gyrus	brain
18	chr14:104386800-104388200	Active TSS	Right Atrium	heart
19	chr14:104386800-104388200	Active TSS	GM12878-XiMat	blood
20	chr14:104386800-104388200	Active TSS	K562	blood
21	chr14:104386800-104388400	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr14:104386800-104388400	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr14:104386800-104388400	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr14:104386800-104388400	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr14:104386800-104388400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:104386800-104388400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:104386800-104388400	Active TSS	A549	lung
28	chr14:104386800-104388400	Active TSS	HSMM	muscle
29	chr14:104386800-104388400	Active TSS	NHLF	lung
30	chr14:104387000-104387800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr14:104387000-104387800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr14:104387000-104388000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:104387000-104388000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:104387000-104388000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:104387000-104388000	Active TSS	Colon Smooth Muscle	Colon
36	chr14:104387000-104388000	Active TSS	Esophagus	oesophagus
37	chr14:104387000-104388000	Active TSS	Fetal Kidney	kidney
38	chr14:104387000-104388000	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr14:104387000-104388000	Active TSS	Pancreas	Pancrea
40	chr14:104387000-104388200	Active TSS	H9 Cell Line	embryonic stem cell
41	chr14:104387000-104388200	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr14:104387000-104388200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr14:104387000-104388200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:104387000-104388200	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr14:104387000-104388200	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr14:104387000-104388200	Active TSS	Placenta	Placenta
47	chr14:104387000-104388200	Active TSS	Rectal Smooth Muscle	rectum
48	chr14:104387000-104388200	Active TSS	NH-A	brain
49	chr14:104387000-104388200	Active TSS	NHDF-Ad	bronchial
50	chr14:104387000-104388400	Active TSS	ES-I3 Cell Line	embryonic stem cell

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