Variant report

Variant	rs2278067
Chromosome Location	chr2:95955680-95955681
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:95897441..95898067-chr2:95954965..95956415,3	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 9 )

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

rs_ID	r²[population]
rs11686534	0.82[ASN][1000 genomes]
rs2113418	0.84[GIH][hapmap]
rs3821340	0.84[ASW][hapmap];0.91[GIH][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap]
rs889854	0.87[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv1008945	chr2:95745367-96062107	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1007627	chr2:95878031-95973743	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv535822	chr2:95878031-95973743	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv998370	chr2:95897299-96074071	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv535823	chr2:95897299-96074071	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv998014	chr2:95913278-96296630	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv528011	chr2:95931218-96057011	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1003196	chr2:95935031-95988314	Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1010831	chr2:95935648-96074213	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv535824	chr2:95935648-96074213	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv482871	chr2:95936531-96036880	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1010345	chr2:95939355-95988314	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv999838	chr2:95945923-96003473	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs2278067	ZNF514	Cis_1M	lymphoblastoid	RTeQTL
rs2278067	ZNF514	cis	Thyroid	GTEx
rs2278067	ZNF514	cis	multi-tissue	Pritchard
rs2278067	ZNF514	cis	cerebellum	SCAN
rs2278067	ZNF514	cis	Muscle Skeletal	GTEx
rs2278067	ZNF514	cis	Esophagus Mucosa	GTEx
rs2278067	ZNF514	cis	Adipose Subcutaneous	GTEx
rs2278067	ZNF514	cis	Artery Aorta	GTEx
rs2278067	ZNF514	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95930000-95956200	Weak transcription	Fetal Brain Female	brain
2	chr2:95931400-95961000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:95931400-95961600	Weak transcription	Brain Substantia Nigra	brain
4	chr2:95932400-95961600	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:95943600-95956200	Weak transcription	Right Ventricle	heart
6	chr2:95945800-95956400	Weak transcription	Ovary	ovary
7	chr2:95945800-95958200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:95946800-95956000	Weak transcription	Stomach Mucosa	stomach
9	chr2:95946800-95960000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:95947800-95960800	Weak transcription	Brain Angular Gyrus	brain
11	chr2:95948400-95955800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:95948600-95957600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:95949800-95957200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:95950000-95956000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:95950200-95956400	Strong transcription	Gastric	stomach
16	chr2:95952400-95955800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:95953800-95956000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr2:95953800-95956400	Strong transcription	Esophagus	oesophagus
19	chr2:95954000-95956000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:95954200-95955800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:95954200-95956000	Weak transcription	HMEC	breast
22	chr2:95954400-95958200	Weak transcription	Pancreas	Pancrea
23	chr2:95954400-95962600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:95954600-95958400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:95954800-95956200	Weak transcription	Brain Germinal Matrix	brain
26	chr2:95955000-95957600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:95955000-95957600	ZNF genes & repeats	NHEK	skin
28	chr2:95955200-95958200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr2:95955400-95955800	Weak transcription	Placenta	Placenta
30	chr2:95955400-95956400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:95955400-95956400	Strong transcription	Colonic Mucosa	Colon
32	chr2:95955400-95961200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:95955600-95956000	Weak transcription	Fetal Stomach	stomach

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