Variant report

Variant	rs1885073
Chromosome Location	chr14:104357182-104357183
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 22 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1005542	0.82[EUR][1000 genomes]
rs10144862	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10145537	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10873540	0.97[ASN][1000 genomes]
rs11160768	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12588158	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12884940	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17101891	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28569774	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2887385	0.82[EUR][1000 genomes]
rs5018062	0.87[ASN][1000 genomes]
rs57639232	0.97[ASN][1000 genomes]
rs59415340	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61995849	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61995855	0.97[ASN][1000 genomes]
rs7146090	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7146238	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8009053	0.88[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8009235	0.88[CEU][hapmap];0.85[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8010954	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8018649	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes];0.97[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	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	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS 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 target site	48 gene(s)	inside rSNPs	diseases
6	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
7	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
8	esv1838047	chr14:104283104-104359121	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv902321	chr14:104283104-104378087	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	esv1818596	chr14:104312697-104359121	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv1836134	chr14:104312697-104359121	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv1053305	chr14:104326137-104372608	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv542205	chr14:104326137-104372608	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv542206	chr14:104326137-104377507	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	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
16	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
17	nsv9174	chr14:104352172-104362943	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:22)

SNP	Gene	Cis/trans	Tissue	Source
rs1885073	FOSB	trans	brain	seeQTL
rs1885073	ARC	trans	brain	seeQTL
rs1885073	IER2	trans	brain	seeQTL
rs1885073	FOS	trans	brain	seeQTL
rs1885073	SIK1	trans	brain	seeQTL
rs1885073	NPAS4	trans	brain	seeQTL
rs1885073	EGR2	trans	brain	seeQTL
rs1885073	C14orf79	cis	cerebellum	SCAN
rs1885073	CCL3L1	trans	brain	seeQTL
rs1885073	CCL4	trans	brain	seeQTL
rs1885073	TDRD9	cis	cerebellum	SCAN
rs1885073	KLF6	trans	brain	seeQTL
rs1885073	RAGE	cis	cerebellum	SCAN
rs1885073	GADD45G	trans	brain	seeQTL
rs1885073	EGR4	trans	brain	seeQTL
rs1885073	BTG2	trans	brain	seeQTL
rs1885073	CCL3	trans	brain	seeQTL
rs1885073	SIVA1	cis	parietal	SCAN
rs1885073	RTL1	cis	cerebellum	SCAN
rs1885073	SERTAD2	trans	brain	seeQTL
rs1885073	ZNF331	trans	brain	seeQTL
rs1885073	PTGS2	trans	brain	seeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104347000-104362800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:104347200-104362800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:104351200-104358200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr14:104352000-104359000	Enhancers	Pancreas	Pancrea
5	chr14:104353000-104357200	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr14:104353200-104357600	Enhancers	Lung	lung
7	chr14:104353200-104358400	Enhancers	Stomach Mucosa	stomach
8	chr14:104353400-104357800	Enhancers	Esophagus	oesophagus
9	chr14:104353400-104357800	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr14:104353400-104358000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr14:104353600-104362800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:104354600-104358800	Flanking Active TSS	HepG2	liver
13	chr14:104355000-104359000	Enhancers	Spleen	Spleen
14	chr14:104355600-104357400	Enhancers	Placenta	Placenta
15	chr14:104355600-104358200	Enhancers	Adipose Nuclei	Adipose
16	chr14:104355600-104360200	Weak transcription	Fetal Intestine Small	intestine
17	chr14:104355800-104357800	Enhancers	Left Ventricle	heart
18	chr14:104355800-104358000	Enhancers	Right Ventricle	heart
19	chr14:104355800-104358200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
20	chr14:104355800-104358400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr14:104355800-104362200	Enhancers	Liver	Liver
22	chr14:104356000-104358200	Enhancers	Fetal Muscle Leg	muscle
23	chr14:104356000-104362400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:104356400-104357200	Enhancers	Fetal Muscle Trunk	muscle
25	chr14:104356400-104357400	Enhancers	Colonic Mucosa	Colon
26	chr14:104356400-104357600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr14:104356400-104357800	Enhancers	Duodenum Mucosa	Duodenum
28	chr14:104356400-104358000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:104356400-104362800	Weak transcription	NHEK	skin
30	chr14:104356600-104357400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:104356600-104357600	Weak transcription	Ovary	ovary
32	chr14:104356800-104357200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:104356800-104357400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr14:104356800-104357600	Enhancers	HUVEC	blood vessel
35	chr14:104356800-104360600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:104356800-104364000	Weak transcription	HMEC	breast
37	chr14:104357000-104357600	Enhancers	Small Intestine	intestine
38	chr14:104357000-104358000	Enhancers	Gastric	stomach

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