Variant report

Variant	rs7762427
Chromosome Location	chr6:5086818-5086819
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	chr6:5082094..5085573-chr6:5086074..5088451,3	K562	blood:
2	chr6:5079080..5082683-chr6:5086665..5090602,4	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs34969826	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7761091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7762571	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1017380	chr6:5007870-5152551	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1017373	chr6:5066785-5128943	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv538112	chr6:5066785-5128943	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	esv3439309	chr6:5084978-5087526	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5084200-5087400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr6:5084400-5087000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:5084400-5087000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
4	chr6:5084400-5087000	Bivalent Enhancer	Fetal Brain Male	brain
5	chr6:5084400-5087000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
6	chr6:5084400-5087200	Active TSS	Rectal Smooth Muscle	rectum
7	chr6:5085000-5087000	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr6:5085800-5087400	Weak transcription	HepG2	liver
9	chr6:5086000-5087000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:5086000-5087000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
11	chr6:5086200-5087000	Bivalent/Poised TSS	Fetal Brain Female	brain
12	chr6:5086200-5087600	Bivalent Enhancer	Fetal Thymus	thymus
13	chr6:5086400-5087000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
14	chr6:5086400-5087000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
15	chr6:5086400-5087000	Enhancers	Gastric	stomach
16	chr6:5086400-5087000	Flanking Active TSS	Left Ventricle	heart
17	chr6:5086400-5087000	Bivalent Enhancer	Lung	lung
18	chr6:5086400-5087200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:5086400-5087200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
20	chr6:5086400-5087400	Bivalent Enhancer	Stomach Mucosa	stomach
21	chr6:5086400-5087800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:5086600-5087000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:5086600-5087000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:5086600-5087200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:5086600-5087400	Flanking Active TSS	Colon Smooth Muscle	Colon
26	chr6:5086600-5087400	Bivalent Enhancer	Placenta	Placenta
27	chr6:5086600-5088000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
28	chr6:5086600-5088000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
29	chr6:5086600-5088200	Enhancers	Spleen	Spleen
30	chr6:5086800-5087000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:5086800-5087000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:5086800-5087000	Bivalent Enhancer	Brain Anterior Caudate	brain
33	chr6:5086800-5087000	Enhancers	Brain Substantia Nigra	brain
34	chr6:5086800-5087000	Bivalent Enhancer	Colonic Mucosa	Colon
35	chr6:5086800-5087000	Bivalent Enhancer	Esophagus	oesophagus
36	chr6:5086800-5087000	Bivalent Enhancer	Fetal Intestine Large	intestine
37	chr6:5086800-5087000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr6:5086800-5087200	Bivalent Enhancer	Primary B cells from cord blood	blood
39	chr6:5086800-5087200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:5086800-5087200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
41	chr6:5086800-5087200	Bivalent Enhancer	Fetal Stomach	stomach
42	chr6:5086800-5087400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
43	chr6:5086800-5087400	Bivalent Enhancer	Brain Hippocampus Middle	brain
44	chr6:5086800-5087400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
45	chr6:5086800-5087400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr6:5086800-5087400	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr6:5086800-5087400	Active TSS	Stomach Smooth Muscle	stomach
48	chr6:5086800-5087800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
49	chr6:5086800-5088000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:5086800-5088000	Enhancers	Right Atrium	heart

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