Variant report

Variant	rs761830
Chromosome Location	chr14:66212986-66212987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1003401	0.93[ASN][1000 genomes]
rs1054218	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[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11158601	0.82[CEU][hapmap]
rs11621680	0.85[CEU][hapmap]
rs11622829	0.85[CEU][hapmap]
rs11624104	0.82[CEU][hapmap]
rs11627067	0.82[CEU][hapmap]
rs11627184	0.82[CEU][hapmap]
rs11627185	0.85[CEU][hapmap]
rs11628765	0.80[CEU][hapmap]
rs12588838	0.82[CEU][hapmap]
rs12889002	0.81[CEU][hapmap]
rs12890902	0.82[CEU][hapmap]
rs1535173	0.82[CEU][hapmap]
rs1950557	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1958561	0.82[CEU][hapmap]
rs1984855	0.93[ASN][1000 genomes]
rs1998036	0.85[CEU][hapmap]
rs2064694	0.82[CEU][hapmap]
rs2236067	0.91[ASN][1000 genomes]
rs2268961	0.82[CEU][hapmap]
rs2268962	0.82[CEU][hapmap]
rs2300865	0.82[CEU][hapmap]
rs2411351	0.82[CEU][hapmap]
rs35206478	0.97[ASN][1000 genomes]
rs3742597	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3783709	0.82[CEU][hapmap]
rs4080329	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4143898	0.92[CEU][hapmap]
rs4581615	0.82[CEU][hapmap]
rs58102398	0.90[ASN][1000 genomes]
rs59853675	0.87[ASN][1000 genomes]
rs60273099	0.95[ASN][1000 genomes]
rs60734251	0.90[ASN][1000 genomes]
rs61298903	0.93[ASN][1000 genomes]
rs6573625	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67662065	0.86[ASN][1000 genomes]
rs7142651	0.82[CEU][hapmap]
rs7143026	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7146742	0.96[CEU][hapmap]
rs7148737	0.93[ASN][1000 genomes]
rs7156078	0.93[ASN][1000 genomes]
rs7158556	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7161123	0.81[CEU][hapmap]
rs8003811	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8010876	0.81[CEU][hapmap]
rs8018278	0.82[CEU][hapmap]
rs927004	0.82[CEU][hapmap]
rs968540	0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
2	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs761830	FUT8	cis	cerebellum	SCAN
rs761830	MTHFD1	cis	cerebellum	SCAN
rs761830	PLEKHH1	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66190400-66217000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr14:66191800-66217800	Weak transcription	Small Intestine	intestine
3	chr14:66193000-66218800	Weak transcription	Colonic Mucosa	Colon
4	chr14:66199200-66213600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:66200600-66215600	Weak transcription	Brain Substantia Nigra	brain
6	chr14:66201200-66216400	Weak transcription	Fetal Thymus	thymus
7	chr14:66201800-66219200	Weak transcription	Brain Anterior Caudate	brain
8	chr14:66202200-66215000	Weak transcription	Psoas Muscle	Psoas
9	chr14:66207400-66215400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:66209400-66213400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr14:66209400-66214800	Weak transcription	Primary B cells from cord blood	blood
12	chr14:66209400-66215000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:66209400-66217400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:66209400-66217600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:66209400-66219200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:66209600-66213200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:66209600-66213200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr14:66209600-66213800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr14:66209600-66213800	Weak transcription	Ovary	ovary
20	chr14:66209600-66214600	Weak transcription	HSMMtube	muscle
21	chr14:66209600-66215200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:66209600-66216600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr14:66209600-66217800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:66209600-66217800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr14:66209600-66219000	Weak transcription	Thymus	Thymus
26	chr14:66209600-66219200	Weak transcription	Stomach Mucosa	stomach
27	chr14:66210400-66213400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr14:66210600-66213000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:66210600-66217400	Weak transcription	GM12878-XiMat	blood
30	chr14:66210600-66217800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr14:66210800-66217400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr14:66211000-66213200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:66211000-66218000	Weak transcription	Fetal Intestine Large	intestine
34	chr14:66211800-66217600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:66212000-66213400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr14:66212000-66213400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr14:66212000-66213400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr14:66212000-66213400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:66212000-66213800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr14:66212200-66213600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr14:66212400-66217800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:66212600-66217800	Weak transcription	HepG2	liver
43	chr14:66212800-66214400	Strong transcription	Primary T cells from cord blood	blood

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