Variant report

Variant	rs2120092
Chromosome Location	chr4:475715-475716
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:464730..467884-chr4:475232..479481,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251595	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7667922	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1001899	chr4:68809-517736	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv532703	chr4:72447-614414	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription 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 miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv532704	chr4:85040-628550	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv1010829	chr4:147570-547070	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv536970	chr4:147570-547070	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:468000-478600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:468000-478600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:468000-484600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:468200-492400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:468400-478400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:468400-478600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr4:468400-478800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:468400-478800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr4:468400-478800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr4:468400-478800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:468400-478800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:468400-478800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:468400-478800	Weak transcription	Ovary	ovary
14	chr4:468400-478800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr4:468400-479000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:468400-479000	Weak transcription	Brain Anterior Caudate	brain
17	chr4:468400-479000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr4:468400-479000	Weak transcription	K562	blood
19	chr4:468400-490000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:468400-490000	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:468400-490000	Weak transcription	HepG2	liver
22	chr4:468400-490800	Weak transcription	Brain Angular Gyrus	brain
23	chr4:468400-492000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr4:468400-492000	Weak transcription	Hela-S3	cervix
25	chr4:468400-492200	Weak transcription	Brain Hippocampus Middle	brain
26	chr4:468600-478400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:469000-485600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
28	chr4:469800-479000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr4:470400-487200	Weak transcription	Psoas Muscle	Psoas
30	chr4:470800-478200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:470800-478200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr4:470800-478800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr4:471600-478200	Weak transcription	HSMMtube	muscle
34	chr4:471800-478800	Weak transcription	HMEC	breast
35	chr4:472000-478800	Weak transcription	Osteobl	bone
36	chr4:472600-478800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:472600-478800	Weak transcription	NH-A	brain
38	chr4:472600-478800	Weak transcription	NHEK	skin
39	chr4:472600-486000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:472800-485600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
41	chr4:473000-487400	ZNF genes & repeats	Dnd41	blood
42	chr4:473200-478200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:473200-478800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:473200-492000	Weak transcription	HUVEC	blood vessel
45	chr4:473400-478800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:473600-475800	Weak transcription	Aorta	Aorta
47	chr4:473600-478600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:473600-478800	Weak transcription	Left Ventricle	heart
49	chr4:473600-479000	Weak transcription	Right Ventricle	heart
50	chr4:473600-487200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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