Variant report

Variant	rs536542720
Chromosome Location	chr1:196630076-196630077
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:196286732..196287389-chr1:196629899..196630582,2	MCF-7	breast:
2	chr1:196446311..196446957-chr1:196629995..196630648,2	MCF-7	breast:
3	chr1:196286468..196288000-chr1:196629744..196630751,11	MCF-7	breast:
4	chr1:196629812..196630524-chr1:196701384..196702319,3	MCF-7	breast:
5	chr1:196290352..196291333-chr1:196629770..196630748,2	MCF-7	breast:
6	chr1:196324467..196324970-chr1:196629741..196630381,2	MCF-7	breast:
7	chr1:196286771..196287805-chr1:196629870..196630714,4	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking 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 miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2757766	chr1:196590837-196961802	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv428290	chr1:196590837-196961802	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv428565	chr1:196604434-196772489	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv872958	chr1:196615838-196645117	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv872959	chr1:196619720-196660261	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	nsv872960	chr1:196621221-196641257	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
11	nsv1010642	chr1:196629637-196874948	Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
12	nsv535258	chr1:196629637-196874948	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196623600-196642200	Weak transcription	HSMM	muscle
2	chr1:196623800-196632800	Weak transcription	K562	blood
3	chr1:196624600-196630600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:196625000-196634800	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:196625400-196634800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:196627400-196630200	Flanking Active TSS	Liver	Liver
7	chr1:196627800-196638800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:196628200-196630800	Enhancers	Dnd41	blood
9	chr1:196628800-196630600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:196628800-196630600	Weak transcription	Hela-S3	cervix
11	chr1:196628800-196679400	Weak transcription	Psoas Muscle	Psoas
12	chr1:196629000-196630600	Active TSS	Ovary	ovary
13	chr1:196629200-196672600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:196629400-196630200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:196629600-196631000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:196629800-196630200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:196629800-196630200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:196629800-196630200	Active TSS	Right Atrium	heart
19	chr1:196629800-196630200	Active TSS	Stomach Smooth Muscle	stomach
20	chr1:196629800-196630200	Active TSS	Osteobl	bone
21	chr1:196629800-196630400	Active TSS	Primary hematopoietic stem cells	blood
22	chr1:196629800-196630400	Active TSS	NHDF-Ad	bronchial
23	chr1:196630000-196630200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:196630000-196630200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:196630000-196630200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:196630000-196630200	Enhancers	HUVEC	blood vessel
27	chr1:196630000-196630400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:196630000-196630400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:196630000-196630800	Enhancers	Adipose Nuclei	Adipose

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