Variant report

Variant	rs1320066
Chromosome Location	chr4:7972369-7972370
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7968293..7969808-chr4:7972289..7974865,2	MCF-7	breast:
2	chr4:7966853..7969531-chr4:7971692..7973616,2	MCF-7	breast:
3	chr4:7965044..7967214-chr4:7970387..7972613,2	MCF-7	breast:
4	chr4:7938506..7945813-chr4:7968503..7977501,21	MCF-7	breast:
5	chr4:7941236..7944392-chr4:7970174..7972613,4	MCF-7	breast:
6	chr4:7972328..7974698-chr4:7988025..7989740,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228919	Chromatin interaction
ENSG00000196526	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12512108	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57932625	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv829851	chr4:7958698-8049060	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
6	nsv469779	chr4:7965253-8177646	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv482448	chr4:7965253-8177646	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv878579	chr4:7969594-8011696	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	diseases
9	esv18370	chr4:7971253-7974932	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv593622	chr4:7971872-7974747	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7963400-7975400	Weak transcription	Aorta	Aorta
2	chr4:7967000-7987600	Weak transcription	Psoas Muscle	Psoas
3	chr4:7969000-7975600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
4	chr4:7969200-7972400	Enhancers	Colon Smooth Muscle	Colon
5	chr4:7969200-7973400	Enhancers	Right Ventricle	heart
6	chr4:7969200-7974400	Enhancers	Fetal Muscle Leg	muscle
7	chr4:7969200-7975600	Enhancers	Fetal Thymus	thymus
8	chr4:7969200-7975800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:7969400-7972400	Enhancers	Fetal Muscle Trunk	muscle
10	chr4:7969400-7972400	Enhancers	NHDF-Ad	bronchial
11	chr4:7969400-7972600	Enhancers	Left Ventricle	heart
12	chr4:7969400-7972800	Enhancers	Right Atrium	heart
13	chr4:7969400-7973200	Enhancers	NHLF	lung
14	chr4:7969400-7974800	Enhancers	Lung	lung
15	chr4:7969400-7975800	Enhancers	Stomach Smooth Muscle	stomach
16	chr4:7969400-7976000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:7969600-7975800	Enhancers	Placenta Amnion	Placenta Amnion
18	chr4:7969800-7972400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr4:7969800-7973600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:7970000-7972400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:7970400-7973000	Enhancers	Adipose Nuclei	Adipose
22	chr4:7970400-7973200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr4:7970400-7980200	Weak transcription	HSMM	muscle
24	chr4:7970800-7975800	Enhancers	NH-A	brain
25	chr4:7971000-7972600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr4:7971000-7972600	Enhancers	Ovary	ovary
27	chr4:7971000-7972800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:7971000-7973000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:7971000-7973000	Enhancers	Fetal Lung	lung
30	chr4:7971000-7973200	Enhancers	Brain Cingulate Gyrus	brain
31	chr4:7971000-7973400	Enhancers	Fetal Brain Male	brain
32	chr4:7971000-7973400	Enhancers	Fetal Heart	heart
33	chr4:7971000-7974600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr4:7971000-7976000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr4:7971000-7976000	Enhancers	HMEC	breast
36	chr4:7971200-7972400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:7971200-7972400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:7971200-7972400	Enhancers	Brain Anterior Caudate	brain
39	chr4:7971200-7972400	Enhancers	Fetal Kidney	kidney
40	chr4:7971200-7972600	Enhancers	Primary hematopoietic stem cells	blood
41	chr4:7971200-7973000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr4:7971200-7973200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr4:7971200-7973200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:7971200-7973200	Flanking Active TSS	GM12878-XiMat	blood
45	chr4:7971200-7974000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr4:7971200-7976000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:7971400-7972600	Enhancers	Brain Hippocampus Middle	brain
48	chr4:7971400-7972800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:7971400-7973400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr4:7971400-7974600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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