Variant report

Variant	rs1799945
Chromosome Location	chr6:26091179-26091180
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:26032381..26033883-chr6:26090717..26092758,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIST1H1T-1	chr6:26090951-26091804	NONHSAT108210

Variant related genes	Relation type
ENSG00000137259	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs129128	0.87[AMR][1000 genomes]
rs198812	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs198833	0.92[EUR][1000 genomes]
rs198846	0.94[EUR][1000 genomes]
rs198851	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2032451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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

Variant related diseases (count:4)

Disease	PMID	Source
Hypertension	21909115	GWAS catalog
Iron status biomarkers	21208937	GWAS catalog
Systolic blood pressure	21909115	GWAS catalog
Diastolic blood pressure	21909115	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1799945	HFE	cis	Nerve Tibial	GTEx

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26088400-26104000	Weak transcription	Esophagus	oesophagus
2	chr6:26088600-26092600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:26088600-26093400	Enhancers	Primary B cells from peripheral blood	blood
4	chr6:26089000-26091600	Weak transcription	Spleen	Spleen
5	chr6:26089000-26092200	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr6:26089000-26092800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr6:26089000-26093000	Weak transcription	Lung	lung
8	chr6:26089000-26093200	Weak transcription	Pancreas	Pancrea
9	chr6:26089000-26102800	Weak transcription	Stomach Mucosa	stomach
10	chr6:26089000-26103200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:26089200-26091400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:26089200-26092400	Weak transcription	GM12878-XiMat	blood
13	chr6:26089200-26092800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr6:26089200-26094000	Weak transcription	Osteobl	bone
15	chr6:26089200-26096800	Weak transcription	Brain Hippocampus Middle	brain
16	chr6:26089200-26097200	Weak transcription	Liver	Liver
17	chr6:26089200-26097400	Weak transcription	A549	lung
18	chr6:26089200-26101600	Weak transcription	K562	blood
19	chr6:26089200-26102600	Weak transcription	NHEK	skin
20	chr6:26089200-26102800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr6:26089200-26103200	Weak transcription	Fetal Lung	lung
22	chr6:26089200-26103400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr6:26089200-26103400	Weak transcription	Right Atrium	heart
24	chr6:26089600-26093800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:26089600-26103000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:26089600-26103200	Weak transcription	HMEC	breast
27	chr6:26089800-26091200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:26089800-26091200	Weak transcription	NHLF	lung
29	chr6:26089800-26091400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:26089800-26092600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr6:26089800-26092800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:26089800-26092800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:26089800-26092800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr6:26089800-26093000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:26089800-26097400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr6:26089800-26103000	Weak transcription	Aorta	Aorta
37	chr6:26089800-26103000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr6:26089800-26103200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr6:26089800-26103200	Weak transcription	Fetal Stomach	stomach
40	chr6:26089800-26103400	Weak transcription	Fetal Intestine Large	intestine
41	chr6:26089800-26103400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr6:26089800-26103600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:26089800-26103600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr6:26090000-26091200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:26090000-26103200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:26090000-26104200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr6:26090200-26091400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr6:26090200-26091400	Weak transcription	Primary B cells from cord blood	blood
49	chr6:26090200-26103400	Weak transcription	Fetal Muscle Leg	muscle
50	chr6:26090400-26103200	Weak transcription	Colon Smooth Muscle	Colon

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