Variant report

Variant	rs60401037
Chromosome Location	chr8:4851621-4851622
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10087096	1.00[AMR][1000 genomes]
rs28692660	1.00[AMR][1000 genomes]
rs60727572	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv609876	chr8:4494811-5092970	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1029480	chr8:4497596-5081032	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv498130	chr8:4532988-5176376	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1031026	chr8:4771072-5054326	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4848600-4852600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
2	chr8:4848600-4852800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:4848600-4852800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
4	chr8:4848800-4852800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr8:4848800-4852800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr8:4849600-4852000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
7	chr8:4849800-4852000	Enhancers	Pancreas	Pancrea
8	chr8:4850000-4852000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:4850000-4852200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr8:4850200-4852000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
11	chr8:4850400-4851800	Bivalent Enhancer	Spleen	Spleen
12	chr8:4850400-4852000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:4850400-4852800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:4850600-4851800	Active TSS	Esophagus	oesophagus
15	chr8:4850600-4851800	Bivalent Enhancer	Fetal Intestine Small	intestine
16	chr8:4850600-4852200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:4850600-4852600	Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr8:4850600-4852600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
19	chr8:4851000-4851800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:4851000-4851800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:4851000-4851800	Bivalent Enhancer	Fetal Brain Male	brain
22	chr8:4851000-4852000	Bivalent Enhancer	Right Ventricle	heart
23	chr8:4851000-4852200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
24	chr8:4851000-4852800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr8:4851000-4852800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr8:4851200-4852000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:4851200-4852000	Bivalent Enhancer	Lung	lung
28	chr8:4851200-4852200	Bivalent/Poised TSS	Colonic Mucosa	Colon
29	chr8:4851200-4852600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
30	chr8:4851200-4852800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:4851200-4852800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
32	chr8:4851200-4852800	Bivalent/Poised TSS	Fetal Brain Female	brain
33	chr8:4851400-4851800	Bivalent Enhancer	Liver	Liver
34	chr8:4851400-4851800	Bivalent Enhancer	Fetal Intestine Large	intestine
35	chr8:4851400-4851800	Bivalent Enhancer	Fetal Stomach	stomach
36	chr8:4851400-4852200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:4851400-4852200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
38	chr8:4851400-4852600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:4851400-4852600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:4851400-4852800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr8:4851400-4852800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr8:4851400-4852800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr8:4851400-4852800	Active TSS	Brain Angular Gyrus	brain
44	chr8:4851400-4852800	Active TSS	Brain Anterior Caudate	brain
45	chr8:4851600-4851800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:4851600-4851800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:4851600-4851800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
48	chr8:4851600-4851800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
49	chr8:4851600-4852000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:4851600-4852000	Bivalent Enhancer	Fetal Heart	heart

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