Variant report

Variant	rs61408707
Chromosome Location	chr6:118950343-118950344
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	chr6:118949052..118950872-chr6:118952569..118955401,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17080419	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17080446	1.00[AMR][1000 genomes]
rs17080465	1.00[AMR][1000 genomes]
rs17080466	1.00[AMR][1000 genomes]
rs17080469	1.00[AMR][1000 genomes]
rs17080474	1.00[AMR][1000 genomes]
rs17080525	1.00[AMR][1000 genomes]
rs56959050	0.91[AFR][1000 genomes]
rs57378443	1.00[AMR][1000 genomes]
rs58651965	0.91[AFR][1000 genomes]
rs59858756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60456335	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60881635	0.96[AFR][1000 genomes]
rs61344747	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73515223	1.00[AMR][1000 genomes]
rs73515253	1.00[AMR][1000 genomes]
rs73515256	1.00[AMR][1000 genomes]
rs73515264	1.00[AMR][1000 genomes]
rs73515274	1.00[AMR][1000 genomes]
rs73515281	1.00[AMR][1000 genomes]
rs73526179	0.91[AFR][1000 genomes]
rs73526195	0.91[AFR][1000 genomes]
rs73528730	0.91[AFR][1000 genomes]
rs73528766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73528768	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73528773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73528783	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73528784	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73528786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73530804	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73530824	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1025456	chr6:118669672-119058789	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv432958	chr6:118692307-119010307	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv1034448	chr6:118698169-119016383	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1025097	chr6:118699752-119058789	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv532052	chr6:118711850-119057295	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv432959	chr6:118716318-119010307	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	nsv604556	chr6:118722589-119065365	Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv949416	chr6:118772508-119033063	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
16	nsv604559	chr6:118786486-119113317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
17	nsv1022865	chr6:118786586-119058789	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
18	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
19	nsv1030331	chr6:118874345-118975680	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118912200-118966200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:118920800-118951200	Weak transcription	HSMM	muscle
3	chr6:118927000-118965000	Weak transcription	NHLF	lung
4	chr6:118928000-118952000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:118928800-118951800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:118928800-118951800	Weak transcription	Spleen	Spleen
7	chr6:118931600-118970400	Weak transcription	NH-A	brain
8	chr6:118935600-118951400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:118940200-118966400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:118940400-118951800	Weak transcription	HMEC	breast
11	chr6:118940400-118960600	Weak transcription	Colon Smooth Muscle	Colon
12	chr6:118940600-118951400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:118940600-118955200	Weak transcription	Brain Substantia Nigra	brain
14	chr6:118940800-118951400	Weak transcription	Left Ventricle	heart
15	chr6:118940800-118953400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:118940800-118954800	Weak transcription	Lung	lung
17	chr6:118940800-118955000	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:118940800-118960200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr6:118942200-118951400	Weak transcription	Liver	Liver
20	chr6:118942600-118957600	Weak transcription	Pancreas	Pancrea
21	chr6:118943800-118951400	Weak transcription	Right Atrium	heart
22	chr6:118943800-118954800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr6:118943800-118970000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:118944000-118951000	Weak transcription	Small Intestine	intestine
25	chr6:118944400-118951400	Weak transcription	Osteobl	bone
26	chr6:118944400-118951800	Weak transcription	Gastric	stomach
27	chr6:118944400-118961600	Weak transcription	Ovary	ovary
28	chr6:118945800-118955800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:118946200-118955000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr6:118947200-118953800	Strong transcription	Primary B cells from cord blood	blood
31	chr6:118947400-118950800	Weak transcription	K562	blood
32	chr6:118947400-118951200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:118947400-118951400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr6:118947600-118953800	Strong transcription	Primary T cells from cord blood	blood
35	chr6:118947800-118950800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr6:118948000-118951000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr6:118948000-118951000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr6:118948000-118951000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr6:118948000-118951000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr6:118948000-118951000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr6:118948000-118951000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:118948000-118951200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:118948000-118951200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr6:118948000-118951400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr6:118948000-118951400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:118948000-118951400	Weak transcription	Fetal Stomach	stomach
47	chr6:118948000-118951600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:118948000-118951600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr6:118948000-118952000	Weak transcription	Fetal Intestine Small	intestine
50	chr6:118948000-118952600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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