Variant report

Variant	rs6863826
Chromosome Location	chr5:118501862-118501863
allele	A/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	JUND	chr5:118501786-118502019	H1-hESC	embryonic stem cell:	n/a	n/a
2	GATA3	chr5:118501588-118502244	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr5:118501742-118502186	MCF-7	breast:	n/a	n/a
4	NR2F2	chr5:118501662-118502074	MCF-7	breast:	n/a	n/a
5	GATA3	chr5:118501614-118502169	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118499661..118503036-chr5:118503421..118506608,3	K562	blood:

Variant related genes	Relation type
DMXL1	TF binding region
ENSG00000172869	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10052879	0.87[CHD][hapmap];0.80[GIH][hapmap]
rs10056088	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs10900727	1.00[CHD][hapmap]
rs11241486	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11241490	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11241492	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11738650	0.84[EUR][1000 genomes]
rs12516300	0.93[CEU][hapmap];0.86[GIH][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs12653377	0.93[EUR][1000 genomes]
rs12653870	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12659055	0.93[EUR][1000 genomes]
rs1553544	0.93[CEU][hapmap];0.88[TSI][hapmap]
rs3923326	1.00[CEU][hapmap];0.89[GIH][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs4286709	0.93[YRI][hapmap];0.82[ASN][1000 genomes]
rs4533918	1.00[ASN][1000 genomes]
rs4583917	1.00[CEU][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4895185	0.85[CHD][hapmap]
rs57278208	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60504316	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61279074	0.82[ASN][1000 genomes]
rs62374138	0.86[EUR][1000 genomes]
rs6595174	1.00[CHD][hapmap];0.81[GIH][hapmap]
rs6595176	0.96[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6595178	0.82[ASN][1000 genomes]
rs6874227	1.00[CEU][hapmap];0.91[GIH][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6880622	1.00[CHD][hapmap];0.85[GIH][hapmap];0.87[MEX][hapmap];0.86[YRI][hapmap];0.86[ASN][1000 genomes]
rs7702867	0.87[CHD][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap]
rs7713483	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734532	1.00[CHD][hapmap];0.84[GIH][hapmap];0.83[YRI][hapmap];0.82[ASN][1000 genomes]
rs9327087	0.85[CHD][hapmap]
rs9790885	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription 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 miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1019788	chr5:118488501-118607405	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv537882	chr5:118488501-118607405	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118412200-118522800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:118451200-118533400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:118453800-118522800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr5:118470000-118503200	Weak transcription	NH-A	brain
5	chr5:118472800-118504000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:118472800-118505000	Weak transcription	HepG2	liver
7	chr5:118473800-118505000	Weak transcription	A549	lung
8	chr5:118479000-118526000	Weak transcription	Fetal Brain Male	brain
9	chr5:118483000-118541400	Weak transcription	NHEK	skin
10	chr5:118484800-118506400	Weak transcription	Fetal Heart	heart
11	chr5:118485200-118503800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:118485400-118506600	Weak transcription	HSMMtube	muscle
13	chr5:118485400-118522800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr5:118485600-118515800	Weak transcription	Hela-S3	cervix
15	chr5:118485800-118503400	Weak transcription	HUVEC	blood vessel
16	chr5:118485800-118515600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:118485800-118534000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:118485800-118572200	Weak transcription	Small Intestine	intestine
19	chr5:118486000-118534200	Weak transcription	Brain Angular Gyrus	brain
20	chr5:118486000-118588600	Weak transcription	Right Ventricle	heart
21	chr5:118486200-118513000	Weak transcription	Brain Germinal Matrix	brain
22	chr5:118486200-118526000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:118486200-118534200	Weak transcription	Colon Smooth Muscle	Colon
24	chr5:118486400-118504400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:118486600-118515800	Weak transcription	Osteobl	bone
26	chr5:118489800-118591200	Weak transcription	Colonic Mucosa	Colon
27	chr5:118490000-118505600	Weak transcription	Placenta	Placenta
28	chr5:118490200-118509600	Weak transcription	K562	blood
29	chr5:118490400-118512400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr5:118490600-118515800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:118490800-118513800	Weak transcription	Brain Anterior Caudate	brain
32	chr5:118490800-118515400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr5:118490800-118526000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr5:118490800-118526200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr5:118490800-118532000	Weak transcription	Brain Hippocampus Middle	brain
36	chr5:118491000-118515400	Weak transcription	Brain Substantia Nigra	brain
37	chr5:118491200-118532400	Weak transcription	Fetal Kidney	kidney
38	chr5:118491400-118507400	Weak transcription	Fetal Lung	lung
39	chr5:118491600-118508800	Weak transcription	Aorta	Aorta
40	chr5:118493400-118528000	Weak transcription	Fetal Brain Female	brain
41	chr5:118494600-118534600	Weak transcription	Psoas Muscle	Psoas
42	chr5:118495400-118508800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr5:118495400-118510400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr5:118496200-118503800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr5:118497000-118512600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:118497000-118514600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:118497200-118509800	Strong transcription	Liver	Liver
48	chr5:118497200-118532800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr5:118497800-118504600	Weak transcription	Stomach Mucosa	stomach
50	chr5:118497800-118513600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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