Variant report

Variant	rs7434453
Chromosome Location	chr4:7834843-7834844
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7833636..7836409-chr4:7840548..7842854,2	MCF-7	breast:
2	chr4:7832506..7835446-chr4:7836236..7839914,3	K562	blood:
3	chr4:7828803..7835270-chr4:7836618..7840776,8	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28404732	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4296679	0.86[EUR][1000 genomes]
rs4478189	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4580651	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4689167	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4689168	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6844380	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh 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
5	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7821200-7859000	Weak transcription	Aorta	Aorta
2	chr4:7825400-7839400	Weak transcription	Pancreas	Pancrea
3	chr4:7825600-7852200	Weak transcription	Gastric	stomach
4	chr4:7825800-7854200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:7826000-7846000	Weak transcription	Stomach Mucosa	stomach
6	chr4:7826600-7842400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:7830400-7844200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:7830400-7850000	Weak transcription	Right Ventricle	heart
9	chr4:7830400-7862600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:7830600-7836000	Weak transcription	Fetal Brain Male	brain
11	chr4:7830600-7842800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:7830600-7842800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:7830600-7843000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr4:7830600-7844200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:7830600-7844200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:7830600-7844600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr4:7830600-7845200	Weak transcription	Colonic Mucosa	Colon
18	chr4:7830600-7845800	Weak transcription	Brain Anterior Caudate	brain
19	chr4:7830600-7846400	Weak transcription	Brain Substantia Nigra	brain
20	chr4:7830600-7855200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:7830600-7856200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:7830600-7857200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:7830600-7862200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:7830600-7862400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:7830800-7837800	Weak transcription	Placenta	Placenta
26	chr4:7830800-7838600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:7830800-7839000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr4:7830800-7842600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr4:7830800-7842800	Weak transcription	Esophagus	oesophagus
30	chr4:7830800-7854400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:7831000-7836200	Weak transcription	Brain Germinal Matrix	brain
32	chr4:7831000-7839000	Weak transcription	Adipose Nuclei	Adipose
33	chr4:7831000-7839200	Weak transcription	Fetal Brain Female	brain
34	chr4:7831600-7842800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr4:7831600-7845800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr4:7832200-7839200	Weak transcription	Colon Smooth Muscle	Colon
37	chr4:7832200-7845600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr4:7832200-7845800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr4:7832200-7854000	Weak transcription	Brain Angular Gyrus	brain
40	chr4:7832400-7835600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr4:7832600-7836000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr4:7832600-7838000	Weak transcription	Lung	lung
43	chr4:7832600-7845600	Weak transcription	Small Intestine	intestine
44	chr4:7832800-7836800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:7833000-7845600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr4:7833600-7835600	Weak transcription	Fetal Kidney	kidney
47	chr4:7833600-7844200	Weak transcription	Left Ventricle	heart
48	chr4:7833600-7845600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr4:7833800-7836200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:7833800-7838000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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