Variant report

Variant	rs73718059
Chromosome Location	chr6:5304008-5304009
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	chr6:5302902..5305704-chr6:5324020..5325616,2	K562	blood:
2	chr6:5295225..5299115-chr6:5300154..5305822,5	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs58302900	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60406859	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72811694	0.81[AFR][1000 genomes]
rs73718016	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718018	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718035	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73719725	0.86[AFR][1000 genomes];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	nsv600872	chr6:4975313-5342190	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv1034463	chr6:5137959-5345678	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
10	nsv1021646	chr6:5157795-5367254	Enhancers Flanking Active TSS Active TSS Weak transcription Strong 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	8 gene(s)	inside rSNPs	diseases
11	nsv538115	chr6:5157795-5367254	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	nsv1016456	chr6:5216835-5315913	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS 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	8 gene(s)	inside rSNPs	diseases
16	nsv538117	chr6:5216835-5315913	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS 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	8 gene(s)	inside rSNPs	diseases
17	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
18	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
19	nsv1028185	chr6:5247624-5340163	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	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
21	nsv1022911	chr6:5286297-5322133	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv538119	chr6:5286297-5322133	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	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
24	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

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5280800-5308200	Weak transcription	Primary T cells from cord blood	blood
2	chr6:5287800-5313600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:5288000-5316200	Weak transcription	Fetal Stomach	stomach
4	chr6:5288400-5324000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:5288400-5331000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:5292800-5334400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:5293800-5306200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:5295200-5306000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:5295200-5311600	Weak transcription	Small Intestine	intestine
10	chr6:5295400-5305800	Weak transcription	Fetal Intestine Large	intestine
11	chr6:5295400-5325000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:5296200-5316000	Weak transcription	Lung	lung
13	chr6:5296400-5306000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:5298600-5305000	Weak transcription	Fetal Intestine Small	intestine
15	chr6:5301000-5315400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:5301600-5304200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr6:5301800-5322200	Weak transcription	Ovary	ovary
18	chr6:5302000-5313000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr6:5302400-5304200	Enhancers	Fetal Muscle Leg	muscle
20	chr6:5302400-5304200	Enhancers	Pancreas	Pancrea
21	chr6:5302600-5316000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr6:5302800-5304200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:5302800-5319200	Weak transcription	Aorta	Aorta
24	chr6:5303000-5304200	Enhancers	Liver	Liver
25	chr6:5303000-5306200	Weak transcription	Fetal Lung	lung
26	chr6:5303000-5308400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr6:5303200-5304200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr6:5303200-5304200	Enhancers	HepG2	liver
29	chr6:5303200-5306200	Weak transcription	Fetal Kidney	kidney
30	chr6:5303200-5316000	Weak transcription	Brain Hippocampus Middle	brain
31	chr6:5303200-5368800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:5303400-5304200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr6:5303400-5306400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:5303600-5304200	Enhancers	HMEC	breast
35	chr6:5303600-5305800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr6:5303600-5305800	Weak transcription	Right Ventricle	heart
37	chr6:5303600-5306000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr6:5303600-5310600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr6:5303600-5313000	Weak transcription	K562	blood
40	chr6:5303600-5314400	Weak transcription	Psoas Muscle	Psoas
41	chr6:5303600-5316000	Weak transcription	Brain Anterior Caudate	brain
42	chr6:5303600-5317400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:5303600-5319000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr6:5303600-5332400	Weak transcription	Gastric	stomach
45	chr6:5303800-5304200	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr6:5303800-5305200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr6:5303800-5305800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr6:5303800-5306400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr6:5303800-5306400	Weak transcription	Adipose Nuclei	Adipose
50	chr6:5303800-5308400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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