Variant report

Variant	rs56048646
Chromosome Location	chr7:120690973-120690974
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	HMGN3	chr7:120690794-120690980	K562	blood:	n/a	n/a
2	POLR2A	chr7:120690422-120691398	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120689743..120691904-chr7:120700225..120703183,2	K562	blood:
2	chr7:120685095..120691151-chr7:120712234..120720635,10	K562	blood:

Variant related genes	Relation type
HMGN1P18	TF binding region
ENSG00000106034	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1031282	chr7:120667937-120887301	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv539099	chr7:120667937-120887301	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1019025	chr7:120667937-120918696	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv539100	chr7:120667937-120918696	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv534342	chr7:120667938-120887300	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv889118	chr7:120683751-120800837	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv889119	chr7:120688463-120800837	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv981572	chr7:120690961-120692657	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 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	chr7:120673800-120694200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:120682200-120695800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:120682400-120719600	Weak transcription	Fetal Lung	lung
4	chr7:120682600-120692000	Weak transcription	Fetal Stomach	stomach
5	chr7:120682800-120700800	Weak transcription	Fetal Kidney	kidney
6	chr7:120684000-120694000	Weak transcription	Small Intestine	intestine
7	chr7:120687800-120706600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:120689000-120691200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr7:120689200-120691200	Enhancers	Liver	Liver
10	chr7:120689200-120691200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr7:120689400-120691000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:120689400-120691200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:120689400-120691200	Enhancers	Hela-S3	cervix
14	chr7:120689600-120691000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:120689600-120709400	Weak transcription	HSMMtube	muscle
16	chr7:120689800-120698200	Weak transcription	Spleen	Spleen
17	chr7:120690000-120691000	Enhancers	Placenta	Placenta
18	chr7:120690000-120691000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr7:120690200-120692000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:120690200-120696200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:120690200-120709000	Weak transcription	Right Ventricle	heart
22	chr7:120690200-120709400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:120690400-120691400	Genic enhancers	K562	blood
24	chr7:120690400-120692200	Weak transcription	HSMM	muscle
25	chr7:120690400-120693200	Weak transcription	Fetal Heart	heart
26	chr7:120690400-120694000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:120690400-120704200	Weak transcription	Colon Smooth Muscle	Colon
28	chr7:120690400-120704400	Weak transcription	NHDF-Ad	bronchial
29	chr7:120690400-120709000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr7:120690600-120691200	Enhancers	Psoas Muscle	Psoas
31	chr7:120690600-120709200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:120690800-120691000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:120690800-120691000	Genic enhancers	Aorta	Aorta
34	chr7:120690800-120691000	Genic enhancers	Left Ventricle	heart
35	chr7:120690800-120691000	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr7:120690800-120691200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:120690800-120691200	Genic enhancers	Adipose Nuclei	Adipose
38	chr7:120690800-120691200	Strong transcription	NHLF	lung
39	chr7:120690800-120693000	Strong transcription	Ovary	ovary

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