Variant report

Variant	rs548177684
Chromosome Location	chr1:224254717-224254718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224254185..224256416-chr1:224258081..224260158,2	K562	blood:
2	chr1:224253963..224257240-chr1:224261848..224265687,3	K562	blood:
3	chr1:224253604..224255684-chr1:224268887..224271520,2	MCF-7	breast:

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	esv3374163	chr1:224254396-224254921	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224249600-224255200	Weak transcription	K562	blood
2	chr1:224249600-224256000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:224250600-224257800	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr1:224252000-224256200	Enhancers	NHDF-Ad	bronchial
5	chr1:224252000-224256600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:224252400-224256200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:224252600-224255000	Weak transcription	HSMM	muscle
8	chr1:224252600-224255400	Weak transcription	Small Intestine	intestine
9	chr1:224252600-224256200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:224252600-224258000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:224253200-224256000	Enhancers	HUVEC	blood vessel
12	chr1:224253400-224255000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:224253600-224255000	Weak transcription	NHEK	skin
14	chr1:224253600-224255000	Weak transcription	Osteobl	bone
15	chr1:224253600-224255400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:224253600-224255400	Weak transcription	NH-A	brain
17	chr1:224253800-224254800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:224253800-224255000	Weak transcription	HMEC	breast
19	chr1:224253800-224255400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:224253800-224255400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:224253800-224256000	Weak transcription	Fetal Intestine Large	intestine
22	chr1:224253800-224256000	Weak transcription	Fetal Intestine Small	intestine
23	chr1:224253800-224260400	Weak transcription	Pancreas	Pancrea
24	chr1:224254000-224254800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:224254200-224256400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:224254400-224255000	Weak transcription	NHLF	lung
27	chr1:224254400-224255200	Weak transcription	Stomach Mucosa	stomach
28	chr1:224254400-224255600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:224254400-224256000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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