Variant report

Variant	rs71550060
Chromosome Location	chr6:1524827-1524828
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:1522639..1525978-chr6:1527169..1529799,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FOXC1-6	chr6:1523967-1527642	NONHSAT106509
2	lnc-FOXC1-6	chr6:1524730-1528405	NONHSAT106510

Variant related genes	Relation type
ENSG00000272279	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12523787	1.00[ASN][1000 genomes]
rs12525317	1.00[ASN][1000 genomes]
rs12530463	1.00[ASN][1000 genomes]
rs13191308	1.00[ASN][1000 genomes]
rs13197210	1.00[ASN][1000 genomes]
rs13201037	1.00[ASN][1000 genomes]
rs13203964	1.00[ASN][1000 genomes]
rs13209162	1.00[ASN][1000 genomes]
rs13210401	1.00[ASN][1000 genomes]
rs13212794	1.00[ASN][1000 genomes]
rs17828568	1.00[ASN][1000 genomes]
rs2015974	1.00[ASN][1000 genomes]
rs2317967	1.00[ASN][1000 genomes]
rs2317968	1.00[ASN][1000 genomes]
rs2745610	1.00[ASN][1000 genomes]
rs2816224	1.00[ASN][1000 genomes]
rs2816225	1.00[ASN][1000 genomes]
rs34114087	1.00[ASN][1000 genomes]
rs34779492	1.00[ASN][1000 genomes]
rs35040319	1.00[ASN][1000 genomes]
rs35412353	1.00[ASN][1000 genomes]
rs35694654	1.00[ASN][1000 genomes]
rs35793648	1.00[ASN][1000 genomes]
rs361530	1.00[ASN][1000 genomes]
rs4367416	1.00[ASN][1000 genomes]
rs55821127	1.00[ASN][1000 genomes]
rs62388633	1.00[ASN][1000 genomes]
rs62388638	1.00[ASN][1000 genomes]
rs62388641	1.00[ASN][1000 genomes]
rs62390562	1.00[ASN][1000 genomes]
rs6596831	1.00[ASN][1000 genomes]
rs910016	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024111	chr6:1231850-1730146	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1021924	chr6:1254891-1736995	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv538082	chr6:1254891-1736995	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv917248	chr6:1365437-1627813	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1034039	chr6:1427061-1691837	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv538088	chr6:1427061-1691837	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
8	nsv883373	chr6:1443099-1529135	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1027393	chr6:1446300-1692019	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv538089	chr6:1446300-1692019	Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv883374	chr6:1454334-1558449	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1016859	chr6:1460020-1645819	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
13	nsv883375	chr6:1478613-1558449	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1021878	chr6:1486780-1545589	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv538090	chr6:1486780-1545589	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs71550060	RP11-157J24.2	cis	Artery Tibial	GTEx
rs71550060	RP11-157J24.2	cis	Thyroid	GTEx
rs71550060	RP11-157J24.2	cis	Muscle Skeletal	GTEx
rs71550060	RP11-157J24.2	cis	Skin Sun Exposed Lower leg	GTEx
rs71550060	RP11-157J24.2	cis	Esophagus Muscularis	GTEx
rs71550060	RP11-157J24.2	cis	lung	GTEx
rs71550060	RP11-157J24.2	cis	Adipose Subcutaneous	GTEx
rs71550060	RP11-157J24.2	cis	Artery Aorta	GTEx
rs71550060	RP11-157J24.2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1523800-1528000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:1524000-1525000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr6:1524000-1525000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr6:1524000-1525000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr6:1524000-1525000	Enhancers	Fetal Thymus	thymus
6	chr6:1524000-1527000	Enhancers	Brain Substantia Nigra	brain
7	chr6:1524200-1525000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr6:1524200-1525000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:1524200-1525000	Bivalent Enhancer	Fetal Intestine Small	intestine
10	chr6:1524200-1525000	Bivalent Enhancer	Placenta	Placenta
11	chr6:1524400-1525000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:1524400-1525000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr6:1524400-1525000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr6:1524400-1525000	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr6:1524400-1525000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr6:1524400-1525000	Enhancers	Pancreas	Pancrea
17	chr6:1524400-1525200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr6:1524600-1525000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:1524600-1525000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:1524600-1525000	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr6:1524600-1525000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr6:1524600-1525000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:1524600-1525000	Enhancers	Gastric	stomach
24	chr6:1524600-1525200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr6:1524600-1525600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:1524600-1526400	Weak transcription	Esophagus	oesophagus
27	chr6:1524600-1526400	Weak transcription	Lung	lung
28	chr6:1524600-1526600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr6:1524600-1526600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:1524600-1526600	Weak transcription	Psoas Muscle	Psoas
31	chr6:1524600-1526800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr6:1524600-1527000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr6:1524600-1527000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:1524600-1527000	Weak transcription	Right Atrium	heart
35	chr6:1524600-1527000	Weak transcription	HMEC	breast
36	chr6:1524800-1525000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:1524800-1525000	Active TSS	Adipose Nuclei	Adipose
38	chr6:1524800-1525000	Enhancers	Brain Angular Gyrus	brain
39	chr6:1524800-1525000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr6:1524800-1525200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:1524800-1525200	Bivalent Enhancer	Fetal Lung	lung
42	chr6:1524800-1525600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:1524800-1525600	Weak transcription	Fetal Brain Female	brain
44	chr6:1524800-1525800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
45	chr6:1524800-1526000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr6:1524800-1526200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:1524800-1526400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:1524800-1526400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:1524800-1526600	Enhancers	Brain Anterior Caudate	brain
50	chr6:1524800-1526600	Enhancers	Brain Cingulate Gyrus	brain

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