Variant report

Variant	rs3799374
Chromosome Location	chr6:26088407-26088408
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	POLR2A	chr6:26087647-26088410	PFSK-1	brain:	n/a	n/a
2	STAT3	chr6:26088405-26088669	MCF10A-Er-Src	breast:	n/a	n/a
3	TEAD4	chr6:26087444-26088516	K562	blood:	n/a	n/a
4	MYBL2	chr6:26087644-26088461	HepG2	liver:	n/a	n/a
5	POLR2A	chr6:26087550-26088450	K562	blood:	n/a	n/a
6	MAX	chr6:26087441-26088441	A549	lung:	n/a	n/a
7	MTA3	chr6:26087696-26088526	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:26087450-26088455	SK-N-MC	brain:	n/a	n/a
9	CUX1	chr6:26088390-26088632	K562	blood:	n/a	n/a
10	POLR2A	chr6:26087682-26088414	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr6:26088360-26088510	HVMF	connective:	n/a	n/a
12	POLR2A	chr6:26087422-26088418	Hela-S3	cervix:	n/a	n/a
13	MYBL2	chr6:26087582-26088426	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
HFE	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11751732	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11755492	0.94[ASN][1000 genomes]
rs11756400	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11758378	0.87[ASN][1000 genomes]
rs11759668	0.86[ASN][1000 genomes]
rs11961143	0.94[ASN][1000 genomes]
rs11965426	0.86[ASN][1000 genomes]
rs17596719	0.91[EUR][1000 genomes]
rs1800758	0.88[EUR][1000 genomes]
rs2051538	0.86[ASN][1000 genomes]
rs2230654	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs34956419	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36125084	0.81[ASN][1000 genomes]
rs55661658	0.86[ASN][1000 genomes]
rs56073264	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59281021	0.81[ASN][1000 genomes]
rs61289224	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs62394542	0.86[ASN][1000 genomes]
rs62394550	0.92[ASN][1000 genomes]
rs62394555	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62394556	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62396160	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62396164	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62396165	0.94[EUR][1000 genomes]
rs66505449	0.94[ASN][1000 genomes]
rs66536062	0.86[ASN][1000 genomes]
rs6906460	0.81[ASN][1000 genomes]
rs6925912	0.81[ASN][1000 genomes]
rs6935470	0.86[ASN][1000 genomes]
rs7757646	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7762959	0.91[EUR][1000 genomes]
rs7773526	0.81[ASN][1000 genomes]
rs9689245	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1030351	chr6:25813178-26352046	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1189 gene(s)	inside rSNPs	diseases
4	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
5	nsv1025237	chr6:25874326-26280867	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
6	nsv538163	chr6:25874326-26280867	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
7	nsv1015627	chr6:25973495-26100483	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised 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	447 gene(s)	inside rSNPs	diseases
8	nsv538164	chr6:25973495-26100483	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	447 gene(s)	inside rSNPs	diseases
9	nsv1028456	chr6:25984457-26174993	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	873 gene(s)	inside rSNPs	diseases
10	nsv538165	chr6:25984457-26174993	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	873 gene(s)	inside rSNPs	diseases
11	nsv428137	chr6:25987413-26351920	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1181 gene(s)	inside rSNPs	diseases
12	nsv916992	chr6:25991630-26280921	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1159 gene(s)	inside rSNPs	diseases
13	nsv1028232	chr6:26005449-26319756	Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1171 gene(s)	inside rSNPs	diseases
14	nsv870314	chr6:26008435-26280807	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1151 gene(s)	inside rSNPs	diseases
15	nsv1023457	chr6:26014014-26305407	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1170 gene(s)	inside rSNPs	diseases
16	nsv1025493	chr6:26026870-26223838	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1001 gene(s)	inside rSNPs	diseases
17	nsv1023979	chr6:26026870-26287399	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1113 gene(s)	inside rSNPs	diseases
18	nsv1015782	chr6:26026870-26323895	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1114 gene(s)	inside rSNPs	diseases
19	nsv1018665	chr6:26026870-26352046	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1116 gene(s)	inside rSNPs	diseases
20	nsv482348	chr6:26082709-26261136	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	799 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	chr6:26087200-26088800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:26087400-26088600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:26087400-26088600	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr6:26087400-26088600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:26087400-26088600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:26087400-26088600	Active TSS	Brain Angular Gyrus	brain
7	chr6:26087400-26088600	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr6:26087400-26088600	Active TSS	Ovary	ovary
9	chr6:26087400-26088600	Active TSS	Psoas Muscle	Psoas
10	chr6:26087400-26088600	Active TSS	NHDF-Ad	bronchial
11	chr6:26087400-26088600	Active TSS	NHLF	lung
12	chr6:26087400-26088800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:26087400-26088800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:26087400-26088800	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr6:26087400-26088800	Active TSS	Right Atrium	heart
16	chr6:26087400-26088800	Active TSS	Stomach Smooth Muscle	stomach
17	chr6:26087400-26089200	Active TSS	Brain Cingulate Gyrus	brain
18	chr6:26087800-26088600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr6:26088000-26088600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
20	chr6:26088000-26088600	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr6:26088000-26088600	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr6:26088000-26088600	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr6:26088000-26088600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr6:26088000-26088600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr6:26088000-26088600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:26088000-26088600	Flanking Active TSS	Fetal Muscle Trunk	muscle
27	chr6:26088000-26088600	Flanking Active TSS	Fetal Muscle Leg	muscle
28	chr6:26088000-26088800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr6:26088000-26088800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr6:26088000-26088800	Flanking Active TSS	HUVEC	blood vessel
31	chr6:26088000-26088800	Flanking Active TSS	K562	blood
32	chr6:26088000-26088800	Flanking Active TSS	NH-A	brain
33	chr6:26088000-26089000	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr6:26088000-26089000	Flanking Active TSS	Dnd41	blood
35	chr6:26088000-26089000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr6:26088000-26089200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr6:26088200-26088600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr6:26088200-26088600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr6:26088200-26088600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr6:26088200-26088600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr6:26088200-26088600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr6:26088200-26088600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:26088200-26088600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr6:26088200-26088600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr6:26088200-26088600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr6:26088200-26088600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:26088200-26088600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr6:26088200-26088600	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr6:26088200-26088600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr6:26088200-26088600	Flanking Active TSS	Fetal Intestine Small	intestine

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