Variant report

Variant	rs10005748
Chromosome Location	chr4:7653541-7653542
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10004763	1.00[ASN][1000 genomes]
rs10006835	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10015734	0.91[EUR][1000 genomes]
rs28643428	0.91[EUR][1000 genomes]
rs57534629	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62290668	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62290669	1.00[ASN][1000 genomes]
rs62290671	1.00[ASN][1000 genomes]
rs62290672	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62290673	1.00[ASN][1000 genomes]
rs62290676	0.91[EUR][1000 genomes]
rs6826370	0.94[EUR][1000 genomes]
rs886366	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886367	1.00[ASN][1000 genomes]
rs886368	1.00[ASN][1000 genomes]
rs886369	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	esv34156	chr4:7526515-7750588	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv508272	chr4:7591967-7722112	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv878571	chr4:7637297-7743283	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7646600-7656400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr4:7648200-7654800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:7648200-7654800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:7648400-7653600	Enhancers	HUVEC	blood vessel
5	chr4:7648400-7658000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr4:7648600-7653800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:7649000-7655000	Enhancers	NH-A	brain
8	chr4:7649200-7653800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:7649400-7653800	Enhancers	NHLF	lung
10	chr4:7649400-7654000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:7649400-7655000	Enhancers	Duodenum Mucosa	Duodenum
12	chr4:7649400-7655000	Enhancers	HSMM	muscle
13	chr4:7649600-7653800	Enhancers	Osteobl	bone
14	chr4:7649600-7654600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:7649600-7655000	Enhancers	Adipose Nuclei	Adipose
16	chr4:7649600-7655600	Enhancers	HMEC	breast
17	chr4:7649600-7657400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr4:7649600-7659000	Enhancers	Ovary	ovary
19	chr4:7649800-7657000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:7650000-7653600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:7650000-7658600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr4:7650600-7654400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr4:7650600-7655000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:7650600-7658400	Enhancers	Primary hematopoietic stem cells	blood
25	chr4:7651000-7654000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:7651000-7654400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:7651000-7655600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr4:7651200-7654600	Enhancers	HSMMtube	muscle
29	chr4:7651200-7655600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:7651200-7657400	Enhancers	Brain Hippocampus Middle	brain
31	chr4:7651200-7658600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:7651400-7655000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:7651400-7658600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:7651400-7660400	Weak transcription	Colonic Mucosa	Colon
35	chr4:7651600-7654400	Weak transcription	HepG2	liver
36	chr4:7651800-7658800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:7652000-7654000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr4:7652000-7654200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr4:7652000-7654400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:7652000-7654600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr4:7652000-7654600	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr4:7652000-7654600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr4:7652000-7654600	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr4:7652000-7655600	Enhancers	Brain Substantia Nigra	brain
45	chr4:7652200-7653800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr4:7652200-7654000	Enhancers	H1 Cell Line	embryonic stem cell
47	chr4:7652200-7654200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:7652200-7654200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr4:7652200-7654400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr4:7652200-7655400	Weak transcription	Pancreas	Pancrea

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