Variant report

Variant	rs7693992
Chromosome Location	chr4:7464294-7464295
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7396272..7396793-chr4:7463896..7464564,2	MCF-7	breast:
2	chr4:7337216..7338143-chr4:7463851..7464757,3	MCF-7	breast:
3	chr4:7464162..7464863-chr4:7721037..7721847,3	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10025851	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1075760	1.00[JPT][hapmap]
rs10937821	1.00[JPT][hapmap]
rs11724218	0.84[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11730684	1.00[JPT][hapmap]
rs13119122	1.00[JPT][hapmap]
rs13125852	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13137137	0.82[EUR][1000 genomes]
rs13144220	1.00[JPT][hapmap]
rs34503505	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34961985	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4416477	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4613570	0.84[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4689131	1.00[JPT][hapmap]
rs4689768	1.00[JPT][hapmap]
rs4689771	1.00[JPT][hapmap]
rs7656523	1.00[JPT][hapmap]
rs7683218	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7685329	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
6	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
7	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
8	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
9	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
10	nsv878566	chr4:7456717-7529367	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
11	nsv878567	chr4:7456717-7544610	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7460800-7466000	Enhancers	Ovary	ovary
2	chr4:7461000-7466000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr4:7462000-7464800	Enhancers	Stomach Smooth Muscle	stomach
4	chr4:7462000-7465400	Enhancers	Brain Substantia Nigra	brain
5	chr4:7462000-7465600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:7462200-7464400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:7462200-7464800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:7462200-7464800	Enhancers	Fetal Intestine Small	intestine
9	chr4:7462200-7465800	Enhancers	Brain Cingulate Gyrus	brain
10	chr4:7462200-7466000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr4:7462400-7465000	Enhancers	Brain Angular Gyrus	brain
12	chr4:7462400-7466000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:7462600-7464600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr4:7463000-7464800	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr4:7463000-7464800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
16	chr4:7463200-7464400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:7463200-7464600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr4:7463200-7464800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr4:7463200-7464800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:7463200-7465000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:7463200-7466000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:7463400-7465000	Enhancers	Fetal Brain Female	brain
23	chr4:7463400-7465600	Enhancers	Brain Anterior Caudate	brain
24	chr4:7463400-7466000	Enhancers	Brain Hippocampus Middle	brain
25	chr4:7463800-7464600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:7463800-7464600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr4:7463800-7464600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:7463800-7464600	Enhancers	A549	lung
29	chr4:7463800-7465000	Enhancers	Stomach Mucosa	stomach
30	chr4:7463800-7465600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:7463800-7466000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:7463800-7467400	Enhancers	Brain Germinal Matrix	brain
33	chr4:7464000-7464400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:7464000-7465000	Enhancers	Liver	Liver
35	chr4:7464000-7465000	Enhancers	Fetal Brain Male	brain
36	chr4:7464000-7465800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
37	chr4:7464200-7464600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr4:7464200-7465600	Enhancers	Left Ventricle	heart
39	chr4:7464200-7466600	Enhancers	Fetal Stomach	stomach

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