Variant report

Variant	rs188592007
Chromosome Location	chr1:224245507-224245508
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224240269..224242100-chr1:224243386..224246178,2	K562	blood:
2	chr1:223958981..223961667-chr1:224244026..224246906,2	K562	blood:
3	chr1:224238624..224240170-chr1:224243287..224246232,2	K562	blood:
4	chr1:223886897..223889669-chr1:224243550..224246462,2	K562	blood:
5	chr1:224239914..224241769-chr1:224243528..224246178,2	K562	blood:
6	chr1:224244471..224246198-chr1:224247592..224249226,2	K562	blood:

Variant related genes	Relation type
ENSG00000162909	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv511736	chr1:224245309-224248054	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224241200-224245600	Weak transcription	NHDF-Ad	bronchial
2	chr1:224241800-224245600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:224244400-224245600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:224244400-224247000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:224244800-224245800	Enhancers	HepG2	liver
6	chr1:224244800-224248000	Enhancers	HUVEC	blood vessel
7	chr1:224245000-224245600	Enhancers	NHEK	skin
8	chr1:224245000-224246600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:224245000-224246800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:224245000-224247000	Enhancers	HMEC	breast
11	chr1:224245200-224245600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:224245200-224245600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr1:224245200-224245800	Enhancers	Duodenum Mucosa	Duodenum
14	chr1:224245200-224246000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:224245400-224245800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:224245400-224245800	Enhancers	Fetal Intestine Large	intestine
17	chr1:224245400-224245800	Enhancers	Stomach Mucosa	stomach
18	chr1:224245400-224245800	Enhancers	K562	blood
19	chr1:224245400-224246400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:224245400-224246400	Enhancers	HSMM	muscle
21	chr1:224245400-224246600	Enhancers	NH-A	brain
22	chr1:224245400-224246800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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