Variant report

Variant	rs73718082
Chromosome Location	chr6:5368986-5368987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs17139744	1.00[AMR][1000 genomes]
rs17139831	1.00[AMR][1000 genomes]
rs2020028	1.00[AMR][1000 genomes]
rs55951971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56080716	1.00[AMR][1000 genomes]
rs56358324	1.00[AMR][1000 genomes]
rs56670098	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57147800	1.00[AMR][1000 genomes]
rs59218577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59361101	1.00[AMR][1000 genomes]
rs59668620	1.00[AMR][1000 genomes]
rs59976090	1.00[AMR][1000 genomes]
rs73352429	1.00[AMR][1000 genomes]
rs73352453	1.00[AMR][1000 genomes]
rs73352457	1.00[AMR][1000 genomes]
rs73718025	1.00[AMR][1000 genomes]
rs73718034	1.00[AMR][1000 genomes]
rs73718037	1.00[AMR][1000 genomes]
rs73718042	1.00[AMR][1000 genomes]
rs73718073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718077	1.00[AFR][1000 genomes]
rs73718079	1.00[AMR][1000 genomes]
rs73718080	1.00[AMR][1000 genomes]
rs73718081	1.00[AMR][1000 genomes]
rs73718083	1.00[AMR][1000 genomes]
rs73718084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73719730	1.00[AMR][1000 genomes]
rs73719732	1.00[AMR][1000 genomes]
rs73719735	1.00[AMR][1000 genomes]
rs73719736	1.00[AMR][1000 genomes]
rs73719737	1.00[AMR][1000 genomes]
rs73719739	1.00[AMR][1000 genomes]
rs73719753	1.00[AMR][1000 genomes]
rs73719755	1.00[AMR][1000 genomes]
rs73719757	1.00[AMR][1000 genomes]
rs73719758	1.00[AMR][1000 genomes]
rs7745552	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1034681	chr6:5070351-5387176	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv538113	chr6:5070351-5387176	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1018152	chr6:5077025-5387176	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
6	nsv600873	chr6:5089278-5400658	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1030254	chr6:5132261-5431585	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
8	nsv1029609	chr6:5187633-5397254	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1035080	chr6:5206533-5396019	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv538116	chr6:5206533-5396019	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1019428	chr6:5216835-5627839	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv538118	chr6:5216835-5627839	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv830578	chr6:5264086-5455570	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv1022738	chr6:5298362-5411645	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv600883	chr6:5302619-5400658	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv883417	chr6:5307432-5431340	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv883418	chr6:5307432-5501389	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv1015643	chr6:5311590-5452427	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv1034607	chr6:5311590-5573514	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv538120	chr6:5311590-5573514	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv916361	chr6:5315853-5695486	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	nsv883419	chr6:5316399-5400658	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	nsv1030744	chr6:5328012-5458222	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv600884	chr6:5338955-5394992	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5326600-5385000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:5334800-5371000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:5337800-5380800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr6:5344800-5369000	Weak transcription	Fetal Lung	lung
5	chr6:5354600-5379600	Weak transcription	GM12878-XiMat	blood
6	chr6:5360200-5371000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:5362000-5370800	Weak transcription	Colonic Mucosa	Colon
8	chr6:5362200-5369200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:5362200-5371200	Weak transcription	Brain Substantia Nigra	brain
10	chr6:5362200-5372000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:5362400-5375200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:5362400-5384600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:5362600-5370000	Weak transcription	Brain Germinal Matrix	brain
14	chr6:5366400-5369000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr6:5366400-5369000	Weak transcription	Thymus	Thymus
16	chr6:5366400-5372200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:5366600-5369400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr6:5366600-5375400	Weak transcription	Brain Angular Gyrus	brain
19	chr6:5367000-5369000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr6:5367000-5378600	Weak transcription	K562	blood
21	chr6:5367200-5369000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr6:5367200-5369200	Weak transcription	Liver	Liver
23	chr6:5367200-5386000	Weak transcription	Fetal Brain Female	brain
24	chr6:5367400-5369000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:5367400-5369000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr6:5367400-5369000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:5367400-5369000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr6:5367400-5369000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr6:5367400-5369200	Weak transcription	Fetal Thymus	thymus
30	chr6:5367400-5371600	Weak transcription	Colon Smooth Muscle	Colon
31	chr6:5367400-5372400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr6:5367400-5379800	Weak transcription	HSMMtube	muscle
33	chr6:5367800-5370200	Weak transcription	HSMM	muscle
34	chr6:5367800-5371000	Weak transcription	Brain Anterior Caudate	brain
35	chr6:5367800-5371200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:5368000-5369000	Weak transcription	Fetal Intestine Large	intestine
37	chr6:5368000-5369000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr6:5368000-5375000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:5368000-5378400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr6:5368200-5369000	Weak transcription	NHEK	skin
41	chr6:5368200-5369200	Weak transcription	HMEC	breast
42	chr6:5368400-5398600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:5368600-5369200	Genic enhancers	Left Ventricle	heart
44	chr6:5368600-5369400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:5368600-5369600	Strong transcription	Fetal Intestine Small	intestine
46	chr6:5368600-5369800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:5368600-5370000	Strong transcription	Dnd41	blood
48	chr6:5368600-5370200	Strong transcription	HepG2	liver
49	chr6:5368600-5370400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr6:5368600-5370600	Strong transcription	Stomach Smooth Muscle	stomach

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