Variant report

Variant	rs4484302
Chromosome Location	chr4:7436997-7436998
allele	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:7)

rs_ID	r²[population]
rs13147605	0.85[EUR][1000 genomes]
rs2884809	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4234805	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4234806	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4234807	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4234808	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4536926	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv593569	chr4:7291363-7626136	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1011547	chr4:7318232-7637410	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537017	chr4:7318232-7637410	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1003679	chr4:7319111-7449262	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv469758	chr4:7370083-7546250	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878560	chr4:7402284-7475114	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv878561	chr4:7402284-7544610	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv878562	chr4:7414226-7438352	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv878563	chr4:7420785-7529367	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
11	nsv878564	chr4:7421007-7535214	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
12	nsv878565	chr4:7421498-7455318	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv593572	chr4:7427899-7437364	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv461204	chr4:7427899-7438352	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv461205	chr4:7434017-7442126	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7427000-7438800	Weak transcription	Spleen	Spleen
2	chr4:7432800-7437000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:7433000-7437600	Weak transcription	Lung	lung
4	chr4:7435800-7440200	Enhancers	Stomach Mucosa	stomach
5	chr4:7436000-7438200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:7436000-7438400	Enhancers	Gastric	stomach
7	chr4:7436200-7438000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr4:7436200-7439600	Enhancers	Fetal Intestine Large	intestine
9	chr4:7436200-7439600	Enhancers	Fetal Intestine Small	intestine
10	chr4:7436400-7437000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:7436400-7437000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr4:7436400-7437000	Bivalent Enhancer	Fetal Stomach	stomach
13	chr4:7436400-7437000	Weak transcription	Right Atrium	heart
14	chr4:7436400-7437000	Enhancers	NHEK	skin
15	chr4:7436400-7437200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:7436400-7437200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:7436400-7437200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:7436400-7437200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:7436400-7437200	Enhancers	Fetal Heart	heart
20	chr4:7436400-7437200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr4:7436400-7437200	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr4:7436400-7437200	Enhancers	Left Ventricle	heart
23	chr4:7436400-7437200	Enhancers	Right Ventricle	heart
24	chr4:7436400-7437200	Enhancers	A549	lung
25	chr4:7436400-7437200	Enhancers	HMEC	breast
26	chr4:7436400-7437800	Enhancers	Esophagus	oesophagus
27	chr4:7436400-7438000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr4:7436400-7438200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr4:7436400-7438200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:7436400-7438400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:7436600-7438000	Enhancers	Fetal Lung	lung
32	chr4:7436600-7438000	Bivalent Enhancer	Placenta	Placenta
33	chr4:7436600-7438000	Flanking Active TSS	HepG2	liver
34	chr4:7436600-7438200	Enhancers	Ovary	ovary
35	chr4:7436800-7437200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:7436800-7437800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:7436800-7443000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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