Variant report

Variant	rs73799142
Chromosome Location	chr4:8354060-8354061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8347622..8350029-chr4:8351308..8354631,3	MCF-7	breast:
2	chr4:8346988..8348504-chr4:8352358..8355226,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs28457236	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv470013	chr4:8315938-8377058	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv878605	chr4:8332057-8378959	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv878606	chr4:8349738-8377058	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv878607	chr4:8349738-8380857	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv878608	chr4:8349738-8386720	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv461219	chr4:8353829-8390646	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv593637	chr4:8353829-8390646	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8349000-8357600	Weak transcription	Fetal Heart	heart
2	chr4:8351400-8355400	Enhancers	Fetal Muscle Leg	muscle
3	chr4:8351400-8356400	Enhancers	Ovary	ovary
4	chr4:8351600-8354600	Enhancers	Spleen	Spleen
5	chr4:8351600-8355400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:8351600-8356000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr4:8351600-8362800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr4:8351800-8354400	Enhancers	Adipose Nuclei	Adipose
9	chr4:8352200-8355600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:8352400-8354400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr4:8352400-8355000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:8352400-8356200	Enhancers	Fetal Thymus	thymus
13	chr4:8352600-8354800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:8352600-8355000	Enhancers	Fetal Stomach	stomach
15	chr4:8352800-8354400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:8352800-8354400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr4:8352800-8354400	Enhancers	Brain Cingulate Gyrus	brain
18	chr4:8352800-8355000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr4:8352800-8355200	Enhancers	Fetal Lung	lung
20	chr4:8352800-8355400	Enhancers	HSMMtube	muscle
21	chr4:8353000-8354200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:8353000-8354600	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr4:8353000-8354600	Enhancers	Right Atrium	heart
24	chr4:8353000-8354800	Bivalent Enhancer	HepG2	liver
25	chr4:8353000-8355200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
26	chr4:8353000-8356200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:8353000-8357400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:8353200-8354200	Enhancers	Thymus	Thymus
29	chr4:8353200-8354400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:8353200-8354400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:8353200-8354800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:8353200-8355000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr4:8353200-8355200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:8353200-8356600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr4:8353400-8354200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr4:8353400-8354200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:8353400-8354400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr4:8353400-8354400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr4:8353400-8354400	Enhancers	Rectal Smooth Muscle	rectum
40	chr4:8353400-8354600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
41	chr4:8353400-8354800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr4:8353400-8355000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:8353400-8355400	Enhancers	HSMM	muscle
44	chr4:8353400-8366200	Weak transcription	Aorta	Aorta
45	chr4:8353600-8354200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:8353600-8354200	Enhancers	Brain Substantia Nigra	brain
47	chr4:8353600-8354400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr4:8353600-8354400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:8353600-8354400	Enhancers	Brain Germinal Matrix	brain
50	chr4:8353600-8356800	Weak transcription	Colon Smooth Muscle	Colon

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