Variant report

Variant	rs2278607
Chromosome Location	chr14:105420215-105420216
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105397107..105399280-chr14:105419920..105422847,2	MCF-7	breast:
2	chr14:105419320..105427156-chr14:105428137..105437324,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185567	Chromatin interaction
ENSG00000166428	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10133168	1.00[CEU][hapmap];0.83[TSI][hapmap]
rs10138859	0.82[EUR][1000 genomes]
rs2819446	0.86[EUR][1000 genomes]
rs74090129	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
4	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
5	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
6	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
7	nsv902419	chr14:105381763-105494262	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv1049253	chr14:105384959-105471855	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv542228	chr14:105390569-105459912	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv456457	chr14:105404384-105555396	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
11	nsv566141	chr14:105404384-105555396	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
12	nsv1036224	chr14:105404755-105470333	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv902420	chr14:105410183-105494262	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
14	nsv902421	chr14:105410183-105574843	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
15	nsv566144	chr14:105412046-105420215	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv1438	chr14:105412728-105457581	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
17	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2278607	FYN	trans	lymphoblastoid	seeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105399800-105424000	Weak transcription	Hela-S3	cervix
2	chr14:105399800-105425000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:105400800-105424600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:105400800-105434000	Weak transcription	Aorta	Aorta
5	chr14:105401000-105423000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:105404000-105421800	Weak transcription	HUVEC	blood vessel
7	chr14:105404000-105429600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:105404200-105423400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:105406800-105421600	Weak transcription	NHLF	lung
10	chr14:105406800-105423600	Weak transcription	Pancreas	Pancrea
11	chr14:105407200-105426800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:105407400-105431800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:105407600-105423000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:105407800-105423600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:105408000-105421000	Weak transcription	HSMM	muscle
16	chr14:105408200-105421600	Weak transcription	Brain Germinal Matrix	brain
17	chr14:105408400-105423600	Weak transcription	Gastric	stomach
18	chr14:105410600-105421200	Weak transcription	Fetal Muscle Leg	muscle
19	chr14:105413800-105424600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:105414000-105420800	Weak transcription	Colon Smooth Muscle	Colon
21	chr14:105415000-105421600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:105416200-105421400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:105417000-105426000	Strong transcription	NHEK	skin
24	chr14:105417800-105423000	Strong transcription	Fetal Stomach	stomach
25	chr14:105418000-105424400	Strong transcription	Placenta Amnion	Placenta Amnion
26	chr14:105418200-105421600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:105418200-105424000	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr14:105418200-105424000	Strong transcription	Esophagus	oesophagus
29	chr14:105418400-105422600	Strong transcription	Stomach Smooth Muscle	stomach
30	chr14:105418400-105422800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr14:105419200-105421800	Weak transcription	Adipose Nuclei	Adipose
32	chr14:105419200-105423200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr14:105419600-105423600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:105419600-105423600	Strong transcription	NHDF-Ad	bronchial
35	chr14:105419600-105423800	Strong transcription	HSMMtube	muscle
36	chr14:105419800-105423600	Strong transcription	HMEC	breast
37	chr14:105419800-105423800	Strong transcription	A549	lung
38	chr14:105419800-105424000	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr14:105420000-105423200	Strong transcription	Rectal Smooth Muscle	rectum
40	chr14:105420000-105423600	Strong transcription	Fetal Brain Female	brain
41	chr14:105420200-105420600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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