Variant report

Variant	rs4299950
Chromosome Location	chr7:57711139-57711140
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NRF1	chr7:57710596-57711280	SK-N-SH	brain:	n/a	chr7:57710928-57710939
2	HMGN3	chr7:57710673-57711170	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000234085	TF binding region
ENSG00000236261	TF binding region
ENSG00000230796	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6557584	0.84[EUR][1000 genomes]
rs6952614	0.86[EUR][1000 genomes]
rs6957358	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7784828	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016541	chr7:56823372-57806010	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv607048	chr7:57190580-58018981	ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
3	esv2761119	chr7:57190580-58019970	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
4	nsv520659	chr7:57208666-57868103	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
5	nsv1017873	chr7:57244029-57882330	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
6	nsv1018512	chr7:57253403-57855404	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
7	nsv538870	chr7:57253403-57855404	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
8	nsv1017499	chr7:57253403-57886151	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
9	nsv538871	chr7:57253403-57886151	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
10	nsv1029476	chr7:57260920-58019983	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
11	esv2752161	chr7:57275833-57919980	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
12	nsv1030441	chr7:57288140-58019983	Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
13	nsv1020184	chr7:57318828-58019983	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
14	nsv1015195	chr7:57334076-58019983	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
15	nsv1017630	chr7:57470632-57758908	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
16	nsv1019359	chr7:57473854-58019983	Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
17	nsv1027128	chr7:57475179-57770028	ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	esv2752832	chr7:57476143-57919943	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
19	esv2752162	chr7:57476164-57919980	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
20	esv2757226	chr7:57586049-57878853	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
21	esv2758611	chr7:57586049-57959574	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
22	esv2759532	chr7:57586049-57959574	Bivalent/Poised TSS ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
23	nsv1024942	chr7:57586049-58019983	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
24	nsv981486	chr7:57602372-57731883	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
25	nsv1018002	chr7:57619922-57722227	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
26	nsv433384	chr7:57633285-58029051	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
27	nsv520877	chr7:57639830-57886384	Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	21 gene(s)	inside rSNPs	diseases
28	nsv1025576	chr7:57697923-58019983	Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island lncRNA	20 gene(s)	inside rSNPs	diseases
29	nsv442049	chr7:57697935-57720016	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
30	nsv8096	chr7:57698733-57715937	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
31	nsv981639	chr7:57708043-57722465	ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
32	esv3478276	chr7:57708765-57711397	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
33	esv3478277	chr7:57708954-57711422	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57705800-57716600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:57706000-57715600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:57706400-57713800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:57708400-57712200	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr7:57708600-57711600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
6	chr7:57708600-57711600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr7:57709400-57711600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr7:57710600-57711600	ZNF genes & repeats	Gastric	stomach
9	chr7:57710600-57711600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
10	chr7:57711000-57711200	Enhancers	K562	blood
11	chr7:57711000-57714400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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