Variant report

Variant	rs8021183
Chromosome Location	chr14:64008433-64008434
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr14:64008142-64011104	IMR90	lung:	n/a	n/a
2	MAFK	chr14:64008207-64009429	Hela-S3	cervix:	n/a	chr14:64008316-64008327 chr14:64009076-64009091
3	PBX3	chr14:64008056-64008583	SK-N-SH	brain:	n/a	n/a
4	MXI1	chr14:64008236-64008460	Hela-S3	cervix:	n/a	n/a
5	MXI1	chr14:64007959-64011998	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:64007697..64011476-chr14:64104829..64109373,5	K562	blood:
2	chr14:64008001..64011840-chr14:64106623..64112419,9	MCF-7	breast:
3	chr14:64007045..64008979-chr14:64009099..64011575,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261242	TF binding region
ENSG00000154001	Chromatin interaction
ENSG00000140006	Chromatin interaction
ENSG00000261242	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10129182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135999	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10220496	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11158494	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255724	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255728	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255729	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255732	0.89[EUR][1000 genomes]
rs1255734	1.00[ASN][1000 genomes]
rs1255736	1.00[ASN][1000 genomes]
rs1255744	1.00[ASN][1000 genomes]
rs1255745	1.00[ASN][1000 genomes]
rs1255747	1.00[ASN][1000 genomes]
rs1255754	1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs1255780	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1255783	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255784	1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs17101259	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28420069	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28607114	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28708979	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28744493	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61983965	1.00[ASN][1000 genomes]
rs61995015	1.00[ASN][1000 genomes]
rs6573515	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7141832	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7150291	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150490	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156664	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158658	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73278655	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74056132	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74056138	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74056139	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74056141	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005767	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8009130	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8017413	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs964955	1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8021183	SIX6	cis	parietal	SCAN
rs8021183	HIF1A	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63960200-64008600	Weak transcription	HSMMtube	muscle
2	chr14:63970200-64008600	Weak transcription	Aorta	Aorta
3	chr14:63972600-64008800	Weak transcription	Esophagus	oesophagus
4	chr14:63975000-64008800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:63990000-64008800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr14:63991800-64008800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:63991800-64008800	Weak transcription	Gastric	stomach
8	chr14:63991800-64008800	Weak transcription	Pancreas	Pancrea
9	chr14:63992000-64008800	Weak transcription	Psoas Muscle	Psoas
10	chr14:63999800-64008600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:63999800-64009000	Weak transcription	Spleen	Spleen
12	chr14:64002000-64008800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:64005200-64008800	Weak transcription	Left Ventricle	heart
14	chr14:64005200-64008800	Weak transcription	Ovary	ovary
15	chr14:64006400-64008800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:64006600-64008600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr14:64006800-64008600	Weak transcription	Fetal Muscle Leg	muscle
18	chr14:64006800-64008800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:64006800-64008800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr14:64006800-64008800	Weak transcription	Placenta	Placenta
21	chr14:64006800-64008800	Weak transcription	Lung	lung
22	chr14:64007000-64008600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:64007000-64008800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:64007000-64008800	Weak transcription	Fetal Thymus	thymus
25	chr14:64007000-64008800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr14:64007400-64008600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr14:64007400-64008800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr14:64007600-64008600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:64007600-64008600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr14:64007600-64008600	Enhancers	Adipose Nuclei	Adipose
31	chr14:64007600-64008600	Enhancers	Fetal Intestine Large	intestine
32	chr14:64007600-64008600	Flanking Active TSS	HepG2	liver
33	chr14:64007600-64008800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr14:64007600-64008800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr14:64007600-64008800	Enhancers	Colon Smooth Muscle	Colon
36	chr14:64007600-64008800	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr14:64007800-64008600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr14:64007800-64008600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr14:64007800-64008600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr14:64007800-64008600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr14:64007800-64008800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:64007800-64008800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:64007800-64009200	Flanking Active TSS	Dnd41	blood
44	chr14:64007800-64011400	Active TSS	NHLF	lung
45	chr14:64007800-64011600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr14:64008000-64008600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:64008000-64008600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr14:64008000-64008600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr14:64008000-64008600	Active TSS	Fetal Brain Female	brain
50	chr14:64008000-64008600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet

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