Variant report

Variant	rs4725983
Chromosome Location	chr7:150647569-150647570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150647011..150651789-chr7:150652430..150656919,6	MCF-7	breast:
2	chr7:150638034..150640570-chr7:150647564..150649196,2	MCF-7	breast:
3	chr7:150646673..150650094-chr7:150670937..150674779,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000055118	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1137617	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11763131	0.83[ASN][1000 genomes]
rs12540183	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13244889	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2907947	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2968853	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2968855	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2968857	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2968860	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2968862	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3807373	0.83[ASN][1000 genomes]
rs4725384	0.81[AMR][1000 genomes]
rs4725980	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs731724	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs758889	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs882156	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs887586	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv2758140	chr7:150538821-150663697	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2759574	chr7:150538821-150663697	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
8	nsv465212	chr7:150598492-150667210	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv609000	chr7:150598492-150667210	Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv465213	chr7:150606288-150667210	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv609001	chr7:150606288-150667210	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
12	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv889463	chr7:150640285-150700946	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
14	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
15	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
16	nsv889466	chr7:150642341-150687430	Enhancers Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
17	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
18	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
19	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
20	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
21	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
22	nsv970969	chr7:150645769-150655995	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150635600-150648000	Weak transcription	Ovary	ovary
2	chr7:150637800-150652400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:150639600-150650800	Weak transcription	Pancreas	Pancrea
4	chr7:150639800-150649200	Weak transcription	Gastric	stomach
5	chr7:150640600-150648800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr7:150641800-150649800	Weak transcription	Spleen	Spleen
7	chr7:150642000-150650400	Enhancers	Fetal Heart	heart
8	chr7:150643000-150650400	Weak transcription	Fetal Kidney	kidney
9	chr7:150643000-150651800	Weak transcription	HSMMtube	muscle
10	chr7:150643400-150647600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr7:150643400-150652200	Weak transcription	Brain Angular Gyrus	brain
12	chr7:150643600-150652000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:150643600-150652200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:150643800-150648000	Weak transcription	Brain Anterior Caudate	brain
15	chr7:150643800-150650800	Weak transcription	Brain Hippocampus Middle	brain
16	chr7:150644000-150647800	Weak transcription	Fetal Brain Female	brain
17	chr7:150644000-150649400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:150644000-150649800	Genic enhancers	Stomach Smooth Muscle	stomach
19	chr7:150644600-150649200	Weak transcription	Left Ventricle	heart
20	chr7:150644800-150647600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:150645000-150647600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:150645200-150651200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:150645400-150647600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:150645400-150647600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:150645400-150648600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:150645400-150651600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:150645600-150648200	Genic enhancers	Fetal Stomach	stomach
28	chr7:150645600-150648600	Strong transcription	Right Ventricle	heart
29	chr7:150645800-150650400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:150646000-150647800	Weak transcription	Fetal Intestine Large	intestine
31	chr7:150646000-150650200	Strong transcription	Fetal Muscle Leg	muscle
32	chr7:150646000-150650400	Weak transcription	Right Atrium	heart
33	chr7:150646200-150648200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:150646400-150650000	Strong transcription	Brain Germinal Matrix	brain
35	chr7:150646600-150647800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr7:150646600-150649400	Strong transcription	Colon Smooth Muscle	Colon
37	chr7:150646800-150647800	Bivalent Enhancer	Placenta	Placenta
38	chr7:150646800-150648000	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr7:150646800-150653200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr7:150647000-150647600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr7:150647000-150650600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr7:150647000-150652000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr7:150647000-150652000	Strong transcription	Fetal Intestine Small	intestine
44	chr7:150647200-150648400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:150647200-150649400	Genic enhancers	K562	blood
46	chr7:150647200-150651000	Weak transcription	Fetal Lung	lung
47	chr7:150647200-150651600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:150647200-150652000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr7:150647200-150652400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:150647400-150650200	Strong transcription	Fetal Muscle Trunk	muscle

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