Variant report

Variant	rs55694280
Chromosome Location	chr1:228128377-228128378
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228120999..228125449-chr1:228127251..228129340,4	MCF-7	breast:
2	chr1:228128193..228132003-chr1:228132864..228136285,5	K562	blood:
3	chr1:228124876..228126546-chr1:228127658..228129176,2	K562	blood:
4	chr1:227915033..227916760-chr1:228128062..228129595,2	K562	blood:

Variant related genes	Relation type
ENSG00000143740	Chromatin interaction
ENSG00000143816	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56280452	0.90[AFR][1000 genomes]
rs56981472	0.90[AFR][1000 genomes]
rs58696607	0.90[AFR][1000 genomes]
rs60751757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74140819	0.81[AFR][1000 genomes]
rs74140821	0.90[AFR][1000 genomes]
rs74140822	0.90[AFR][1000 genomes]
rs74140823	0.90[AFR][1000 genomes]
rs8192631	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv1005852	chr1:227957099-228148363	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv535319	chr1:227957099-228148363	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
7	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
9	nsv873251	chr1:228051234-228160911	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228107800-228134400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:228109600-228132000	Weak transcription	Gastric	stomach
3	chr1:228109800-228134000	Weak transcription	Right Atrium	heart
4	chr1:228111000-228129800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:228118400-228133000	Weak transcription	Ovary	ovary
6	chr1:228121000-228132600	Weak transcription	Fetal Intestine Small	intestine
7	chr1:228123800-228128600	Weak transcription	HSMM	muscle
8	chr1:228123800-228132000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:228123800-228132600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:228125400-228129200	Weak transcription	HSMMtube	muscle
11	chr1:228125400-228129600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:228125600-228130800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:228126000-228128400	Enhancers	Esophagus	oesophagus
14	chr1:228126000-228130800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:228126200-228128600	Enhancers	Spleen	Spleen
16	chr1:228126200-228129200	Genic enhancers	Fetal Stomach	stomach
17	chr1:228126200-228134400	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr1:228126600-228133400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr1:228126800-228129000	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr1:228127000-228128800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:228127000-228133600	Enhancers	Fetal Muscle Leg	muscle
22	chr1:228127800-228128800	Weak transcription	Fetal Heart	heart
23	chr1:228127800-228129800	Weak transcription	Fetal Brain Female	brain
24	chr1:228128000-228128600	Enhancers	Pancreas	Pancrea
25	chr1:228128000-228129200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:228128000-228133400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:228128200-228128400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:228128200-228128600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr1:228128200-228128600	Weak transcription	HMEC	breast
30	chr1:228128200-228129000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr1:228128200-228129400	Enhancers	Colon Smooth Muscle	Colon
32	chr1:228128200-228129600	Enhancers	Psoas Muscle	Psoas
33	chr1:228128200-228131600	Enhancers	Right Ventricle	heart
34	chr1:228128200-228132800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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