Variant report

Variant	rs6105031
Chromosome Location	chr20:1359352-1359353
allele	A/C
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	HNF4A	chr20:1359061-1359390	HepG2	liver:	n/a	n/a
2	POLR2A	chr20:1357528-1361515	PANC-1	pancreas:	n/a	n/a
3	CEBPB	chr20:1359019-1359406	HepG2	liver:	n/a	chr20:1359209-1359220
4	HNF4A	chr20:1359046-1359403	HepG2	liver:	n/a	n/a
5	CEBPB	chr20:1359023-1359394	HepG2	liver:	n/a	chr20:1359209-1359220
6	MXI1	chr20:1359119-1359402	HepG2	liver:	n/a	n/a
7	POLR2A	chr20:1358328-1359871	GM12878	blood:	n/a	n/a
8	POLR2A	chr20:1359337-1360120	HepG2	liver:	n/a	n/a
9	POLR2A	chr20:1355853-1361695	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr20:1358444-1360170	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:1351705..1353589-chr20:1357779..1360350,3	K562	blood:
2	chr20:1352089..1353589-chr20:1357859..1360350,2	K562	blood:
3	chr20:1356708..1360006-chr20:1370558..1373951,3	K562	blood:

Variant related genes	Relation type
FKBP1A	TF binding region
ENSG00000088832	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10485824	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11087048	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11697322	1.00[CHB][hapmap]
rs11697395	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11697973	1.00[ASN][1000 genomes]
rs11697987	1.00[ASN][1000 genomes]
rs11698000	1.00[ASN][1000 genomes]
rs11699494	1.00[CHB][hapmap]
rs13163	1.00[CHB][hapmap]
rs13433171	1.00[ASN][1000 genomes]
rs16994239	1.00[CHB][hapmap]
rs16994549	1.00[CHB][hapmap]
rs16995146	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16995310	1.00[CHB][hapmap]
rs16995332	1.00[CHB][hapmap]
rs17793560	1.00[CHB][hapmap]
rs17794135	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1883933	1.00[CHB][hapmap]
rs1884390	1.00[CHB][hapmap]
rs2064645	1.00[CHB][hapmap]
rs2064646	1.00[CHB][hapmap]
rs2249832	1.00[CHB][hapmap]
rs2250091	1.00[CHB][hapmap]
rs2253429	1.00[CHB][hapmap]
rs2253431	1.00[CHB][hapmap]
rs2253693	1.00[CHB][hapmap]
rs2253698	1.00[CHB][hapmap]
rs2256095	1.00[CHB][hapmap]
rs2256229	1.00[CHB][hapmap]
rs2256240	1.00[CHB][hapmap]
rs2256243	1.00[CHB][hapmap]
rs2256250	1.00[CHB][hapmap]
rs2256251	1.00[CHB][hapmap]
rs2263656	1.00[CHB][hapmap]
rs2873522	1.00[CHB][hapmap]
rs4536713	1.00[ASN][1000 genomes]
rs4577347	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4813115	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[LWK][hapmap];0.91[MKK][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4814102	1.00[CHB][hapmap]
rs56035174	1.00[ASN][1000 genomes]
rs57806058	1.00[ASN][1000 genomes]
rs59377624	1.00[ASN][1000 genomes]
rs59681252	1.00[ASN][1000 genomes]
rs6033534	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6033554	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6033660	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6033672	1.00[ASN][1000 genomes]
rs6033871	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6033896	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6033914	1.00[CHB][hapmap]
rs6033935	1.00[CHB][hapmap]
rs6041382	1.00[ASN][1000 genomes]
rs6041689	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6041716	1.00[CHB][hapmap]
rs6041717	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6042000	1.00[ASN][1000 genomes]
rs6042506	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6042550	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6042568	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6042574	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6042578	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6042585	1.00[CHB][hapmap]
rs6042588	1.00[CHB][hapmap]
rs6042676	1.00[CHB][hapmap]
rs6042689	1.00[CHB][hapmap]
rs6078575	1.00[CHB][hapmap]
rs6105101	1.00[CHB][hapmap]
rs6109437	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6109511	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6109522	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6109605	0.95[YRI][hapmap]
rs6109623	0.93[ASW][hapmap];0.97[LWK][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs6109740	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109784	1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6109984	1.00[CHB][hapmap]
rs6109989	1.00[CHB][hapmap]
rs6110189	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6110193	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs62187542	1.00[ASN][1000 genomes]
rs62187543	1.00[ASN][1000 genomes]
rs6514337	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6514364	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs715217	1.00[CHB][hapmap]
rs7271240	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7274052	1.00[ASN][1000 genomes]
rs73067251	1.00[ASN][1000 genomes]
rs73069188	1.00[ASN][1000 genomes]
rs73076965	1.00[ASN][1000 genomes]
rs73076966	1.00[ASN][1000 genomes]
rs73579382	1.00[ASN][1000 genomes]
rs73581208	1.00[ASN][1000 genomes]
rs73581243	0.80[AFR][1000 genomes]
rs747611	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8117563	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8117744	1.00[ASN][1000 genomes]
rs8118276	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8119259	1.00[ASN][1000 genomes]
rs912113	1.00[CHB][hapmap]
rs958839	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522008	chr20:1340390-1638578	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1327600-1372200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:1336200-1361800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr20:1336400-1370400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:1341400-1370600	Weak transcription	Hela-S3	cervix
5	chr20:1348000-1366800	Strong transcription	Dnd41	blood
6	chr20:1349000-1362800	Weak transcription	Fetal Kidney	kidney
7	chr20:1353200-1369400	Weak transcription	Brain Germinal Matrix	brain
8	chr20:1354200-1360600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr20:1354400-1371200	Weak transcription	Fetal Brain Male	brain
10	chr20:1354600-1363400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr20:1355200-1359800	Enhancers	Psoas Muscle	Psoas
12	chr20:1355400-1369000	Weak transcription	Fetal Brain Female	brain
13	chr20:1355600-1362800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr20:1355600-1366400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr20:1355600-1369600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr20:1356000-1360200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr20:1356000-1361000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr20:1356000-1362400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr20:1356200-1360600	Genic enhancers	Rectal Mucosa Donor 29	rectum
20	chr20:1356200-1361000	Enhancers	Duodenum Mucosa	Duodenum
21	chr20:1356200-1361200	Enhancers	Brain Cingulate Gyrus	brain
22	chr20:1356200-1363000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr20:1356400-1361200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr20:1356400-1361600	Enhancers	Brain Anterior Caudate	brain
25	chr20:1356400-1365600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr20:1356400-1369600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr20:1356600-1360000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr20:1356600-1369800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr20:1356800-1359400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr20:1356800-1360200	Enhancers	Primary B cells from peripheral blood	blood
31	chr20:1356800-1361200	Enhancers	Left Ventricle	heart
32	chr20:1356800-1365400	Weak transcription	Colonic Mucosa	Colon
33	chr20:1356800-1369200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr20:1356800-1371800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr20:1357000-1359800	Weak transcription	HSMMtube	muscle
36	chr20:1357000-1360800	Enhancers	Fetal Intestine Large	intestine
37	chr20:1357000-1361000	Genic enhancers	Thymus	Thymus
38	chr20:1357000-1361200	Enhancers	Liver	Liver
39	chr20:1357400-1359400	Flanking Active TSS	GM12878-XiMat	blood
40	chr20:1357600-1359600	Enhancers	Small Intestine	intestine
41	chr20:1357600-1360200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr20:1357600-1360400	Genic enhancers	K562	blood
43	chr20:1357600-1360600	Enhancers	Brain Angular Gyrus	brain
44	chr20:1357600-1360800	Enhancers	HMEC	breast
45	chr20:1357600-1361200	Enhancers	Right Atrium	heart
46	chr20:1357600-1361400	Enhancers	Brain Hippocampus Middle	brain
47	chr20:1357600-1364000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr20:1357600-1369000	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr20:1357800-1360200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr20:1357800-1361000	Enhancers	Duodenum Smooth Muscle	Duodenum

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