Variant report

Variant	rs9481839
Chromosome Location	chr6:118945987-118945988
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	chr6:118945176..118946744-chr6:118971211..118973525,2	K562	blood:

Variant related genes	Relation type
ENSG00000111860	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10080340	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10155773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10214801	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10457339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10457340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10457346	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11153749	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11153762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12190964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12191005	0.83[AMR][1000 genomes]
rs12191529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12191962	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12192532	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12197348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12199189	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12199190	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12200660	0.83[AMR][1000 genomes]
rs12201928	0.85[EUR][1000 genomes]
rs12202466	0.83[AMR][1000 genomes]
rs12202932	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12204374	0.83[AMR][1000 genomes]
rs12205793	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12206369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12206459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12207554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12209500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12209566	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12211934	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12212089	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12213494	0.85[EUR][1000 genomes]
rs12215364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12215456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12215565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12215706	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13328242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13437148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13437314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60500545	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6903291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6903632	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6904070	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6904344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6934770	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6939873	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7743702	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7755203	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7759420	1.00[AMR][1000 genomes]
rs7764014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9320657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9320659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9320661	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9320662	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9372510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9387582	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9398488	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9481793	0.80[AFR][1000 genomes]
rs9481810	0.83[AFR][1000 genomes]
rs9481812	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9481818	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9481822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9481823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9481824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9481829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9481830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9481835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489380	0.80[AFR][1000 genomes]
rs9489398	0.96[AFR][1000 genomes]
rs9489402	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9489408	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9489410	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9489415	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9489422	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9489427	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489434	1.00[AFR][1000 genomes]
rs9489435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489484	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9489485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9489488	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9489490	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9489492	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9489495	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9489496	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9489501	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9489505	0.83[AMR][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	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
20	esv3451317	chr6:118938758-118947624	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 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	chr6:118926600-118947000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:118927000-118965000	Weak transcription	NHLF	lung
5	chr6:118928000-118952000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:118928800-118951800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:118928800-118951800	Weak transcription	Spleen	Spleen
8	chr6:118929200-118947000	Weak transcription	Thymus	Thymus
9	chr6:118931600-118970400	Weak transcription	NH-A	brain
10	chr6:118933600-118946800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:118935600-118951400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:118937000-118947000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:118937200-118946200	Weak transcription	Dnd41	blood
14	chr6:118937800-118947000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:118939200-118946000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:118939200-118946400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr6:118940200-118947000	Weak transcription	K562	blood
18	chr6:118940200-118966400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:118940400-118946200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:118940400-118946800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:118940400-118947200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:118940400-118947800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:118940400-118947800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr6:118940400-118950200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:118940400-118951800	Weak transcription	HMEC	breast
26	chr6:118940400-118960600	Weak transcription	Colon Smooth Muscle	Colon
27	chr6:118940600-118946800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr6:118940600-118948600	Weak transcription	Brain Anterior Caudate	brain
29	chr6:118940600-118951400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:118940600-118955200	Weak transcription	Brain Substantia Nigra	brain
31	chr6:118940800-118947000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:118940800-118947200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr6:118940800-118951400	Weak transcription	Left Ventricle	heart
34	chr6:118940800-118953400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:118940800-118954800	Weak transcription	Lung	lung
36	chr6:118940800-118955000	Weak transcription	Brain Hippocampus Middle	brain
37	chr6:118940800-118960200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr6:118941200-118946800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:118941600-118947200	Enhancers	Psoas Muscle	Psoas
40	chr6:118941800-118946600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr6:118942200-118951400	Weak transcription	Liver	Liver
42	chr6:118942400-118946600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr6:118942600-118957600	Weak transcription	Pancreas	Pancrea
44	chr6:118942800-118947000	Strong transcription	Fetal Thymus	thymus
45	chr6:118943600-118946800	Strong transcription	Primary T cells from cord blood	blood
46	chr6:118943800-118951400	Weak transcription	Right Atrium	heart
47	chr6:118943800-118954800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr6:118943800-118970000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:118944000-118946800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr6:118944000-118951000	Weak transcription	Small Intestine	intestine

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