Variant report

Variant	rs573621852
Chromosome Location	chr1:228398456-228398457
allele	C/T
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	POLR2A	chr1:228397593-228398462	K562	blood:	n/a	n/a
2	TFAP2C	chr1:228397621-228398515	Hela-S3	cervix:	n/a	n/a
3	SMARCB1	chr1:228397116-228398668	Hela-S3	cervix:	n/a	chr1:228397858-228397867

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:228397487..228399234-chr1:228400392..228402021,2	K562	blood:
2	chr1:228395695..228398626-chr1:228460759..228464017,3	K562	blood:

Variant related genes	Relation type
OBSCN	TF binding region
ENSG00000162913	Chromatin interaction
ENSG00000269890	Chromatin interaction
ENSG00000269934	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	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
2	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
3	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
4	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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	91 gene(s)	inside rSNPs	diseases
6	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
7	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
8	nsv873257	chr1:228322826-228412106	Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
9	nsv1012078	chr1:228340876-228521843	Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
10	nsv535320	chr1:228340876-228521843	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
11	esv1808523	chr1:228359177-228400358	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv873263	chr1:228391808-228494790	Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	esv3419574	chr1:228397729-228402327	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
14	esv3397989	chr1:228398279-228402677	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	12 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	chr1:228394600-228400200	Weak transcription	Fetal Lung	lung
2	chr1:228395600-228398600	Active TSS	Left Ventricle	heart
3	chr1:228395600-228399400	Weak transcription	Lung	lung
4	chr1:228395600-228400200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:228395800-228405200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
6	chr1:228396200-228398800	Weak transcription	Fetal Intestine Small	intestine
7	chr1:228396200-228400200	Weak transcription	Pancreas	Pancrea
8	chr1:228396400-228399000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:228397000-228400400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:228397200-228399000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:228397200-228401000	Enhancers	Fetal Heart	heart
12	chr1:228397400-228398600	Flanking Active TSS	Fetal Muscle Leg	muscle
13	chr1:228397600-228400200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:228397800-228399000	Enhancers	Placenta Amnion	Placenta Amnion
15	chr1:228397800-228399400	Enhancers	Hela-S3	cervix
16	chr1:228397800-228400800	Weak transcription	HSMMtube	muscle
17	chr1:228398000-228398600	Flanking Active TSS	Right Ventricle	heart
18	chr1:228398200-228399000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr1:228398200-228399400	Weak transcription	Esophagus	oesophagus
20	chr1:228398200-228400400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:228398400-228398600	Enhancers	Brain Anterior Caudate	brain
22	chr1:228398400-228398800	Flanking Active TSS	Psoas Muscle	Psoas
23	chr1:228398400-228398800	Weak transcription	Spleen	Spleen
24	chr1:228398400-228399200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
25	chr1:228398400-228399400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:228398400-228400200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:228398400-228400200	Weak transcription	Right Atrium	heart
28	chr1:228398400-228400400	Weak transcription	A549	lung
29	chr1:228398400-228400400	Weak transcription	HSMM	muscle

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