Variant report

Variant	rs7654924
Chromosome Location	chr4:7978735-7978736
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	chr4:7940916..7942469-chr4:7977876..7979567,2	MCF-7	breast:
2	chr4:7978137..7980891-chr4:8001316..8003240,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196526	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12644609	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1317282	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1878323	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2386052	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6447897	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7677869	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs870714	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][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	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	esv3325565	chr4:7976452-7980650	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7967000-7987600	Weak transcription	Psoas Muscle	Psoas
2	chr4:7970400-7980200	Weak transcription	HSMM	muscle
3	chr4:7972200-7979600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:7972200-7980600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:7972400-7980200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:7973000-7980000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:7973000-7980200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:7973000-7980200	Weak transcription	Adipose Nuclei	Adipose
9	chr4:7973600-7980400	Weak transcription	Ovary	ovary
10	chr4:7974400-7979800	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:7974400-7989400	Weak transcription	Gastric	stomach
12	chr4:7974600-7979600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:7974600-7979600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr4:7974600-7979800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:7974600-7979800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:7974600-7979800	Weak transcription	Colonic Mucosa	Colon
17	chr4:7974600-7979800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:7974600-7979800	Weak transcription	Fetal Stomach	stomach
19	chr4:7974600-7980000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:7974600-7980000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:7974600-7980000	Weak transcription	HUVEC	blood vessel
22	chr4:7974600-7980400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:7974800-7980200	Weak transcription	Lung	lung
24	chr4:7975000-7980400	Weak transcription	Pancreas	Pancrea
25	chr4:7975600-7979000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr4:7975600-7979600	Weak transcription	Fetal Intestine Large	intestine
27	chr4:7975600-7979600	Weak transcription	HSMMtube	muscle
28	chr4:7975600-7979800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:7975600-7979800	Weak transcription	Esophagus	oesophagus
30	chr4:7975600-7979800	Weak transcription	Fetal Thymus	thymus
31	chr4:7975600-7980000	Weak transcription	Stomach Mucosa	stomach
32	chr4:7975600-7980000	Weak transcription	A549	lung
33	chr4:7975600-7983600	Weak transcription	Brain Angular Gyrus	brain
34	chr4:7975600-7984800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr4:7975800-7979200	Weak transcription	Fetal Intestine Small	intestine
36	chr4:7975800-7979800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:7975800-7979800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:7975800-7979800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr4:7975800-7980000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:7975800-7980000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr4:7975800-7980000	Weak transcription	NH-A	brain
42	chr4:7975800-7980200	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr4:7975800-7980200	Weak transcription	Left Ventricle	heart
44	chr4:7975800-7980200	Weak transcription	Right Atrium	heart
45	chr4:7975800-7981600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr4:7975800-7988400	Weak transcription	Aorta	Aorta
47	chr4:7975800-8004800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr4:7976000-7979000	Weak transcription	HMEC	breast
49	chr4:7976000-7979600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:7976000-7979600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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