Variant report

Variant	rs570503014
Chromosome Location	chr5:61576030-61576031
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:61560442..61563605-chr5:61575064..61578930,3	K562	blood:
2	chr5:61570576..61576152-chr5:61577980..61582631,7	K562	blood:
3	chr5:61574146..61576082-chr5:61601811..61603666,2	MCF-7	breast:
4	chr5:61574738..61576264-chr5:61698125..61699775,2	K562	blood:
5	chr5:61573722..61577065-chr5:61577950..61581609,5	K562	blood:

Variant related genes	Relation type
ENSG00000086189	Chromatin interaction
ENSG00000068796	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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 target site	36 gene(s)	inside rSNPs	diseases
2	esv2757996	chr5:61403138-61687817	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv830318	chr5:61415713-61623320	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	esv2755585	chr5:61535831-61618595	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv881726	chr5:61556730-61676911	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	nsv598326	chr5:61569169-61576324	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv996027	chr5:61569356-61577045	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv11302	chr5:61574731-61576375	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv598328	chr5:61574836-61576170	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv598329	chr5:61574836-61576265	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv598330	chr5:61574836-61576324	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv598331	chr5:61574991-61576324	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv598332	chr5:61575096-61576324	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv598333	chr5:61575198-61576324	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv990716	chr5:61575364-61576378	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv823091	chr5:61575364-61576378	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv598334	chr5:61575444-61576115	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	nsv598335	chr5:61575444-61576265	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	nsv598336	chr5:61575444-61576324	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	nsv598337	chr5:61575444-61577837	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	nsv598338	chr5:61575546-61576265	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	nsv598339	chr5:61575546-61576324	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	nsv598340	chr5:61575546-61577837	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	nsv598341	chr5:61575604-61576265	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	nsv598342	chr5:61575604-61576324	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
29	nsv598343	chr5:61575604-61577837	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
30	nsv598344	chr5:61575657-61576265	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
31	nsv598345	chr5:61575657-61576324	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
32	nsv598346	chr5:61575657-61577837	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
33	esv12149	chr5:61575679-61576375	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
34	nsv598347	chr5:61575735-61576324	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61571600-61577400	Weak transcription	Fetal Intestine Small	intestine
2	chr5:61573200-61576400	Weak transcription	Fetal Intestine Large	intestine
3	chr5:61573800-61577800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:61574800-61577400	Weak transcription	K562	blood
5	chr5:61575000-61576800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:61575000-61577000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:61575000-61577800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr5:61575600-61578000	Enhancers	NHEK	skin
9	chr5:61575800-61576200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr5:61575800-61576400	Enhancers	HepG2	liver
11	chr5:61575800-61578200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:61575800-61579000	Enhancers	HMEC	breast
13	chr5:61575800-61580000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:61576000-61577600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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