Variant report

Variant	rs562196343
Chromosome Location	chr4:7634970-7634971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7631134..7633371-chr4:7634868..7637393,3	K562	blood:

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	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1011547	chr4:7318232-7637410	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537017	chr4:7318232-7637410	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	esv34156	chr4:7526515-7750588	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS 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	12 gene(s)	inside rSNPs	diseases
6	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv461213	chr4:7584560-7637297	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv593618	chr4:7584560-7637297	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv508272	chr4:7591967-7722112	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv517503	chr4:7632330-7639906	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3371702	chr4:7633552-7637750	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv513120	chr4:7634477-7636572	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3440191	chr4:7634477-7637025	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3368546	chr4:7634802-7637000	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7631200-7635000	Enhancers	Fetal Brain Male	brain
2	chr4:7631600-7635200	Enhancers	Right Ventricle	heart
3	chr4:7631800-7635200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:7633000-7636400	Weak transcription	Spleen	Spleen
5	chr4:7633200-7635400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:7633200-7635400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:7633200-7636600	Weak transcription	Esophagus	oesophagus
8	chr4:7633200-7643800	Weak transcription	Brain Anterior Caudate	brain
9	chr4:7633400-7635000	Enhancers	Brain Germinal Matrix	brain
10	chr4:7633400-7636400	Weak transcription	HSMM	muscle
11	chr4:7633400-7644400	Weak transcription	Ovary	ovary
12	chr4:7633600-7635000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
13	chr4:7633800-7635000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:7633800-7635600	Enhancers	NH-A	brain
15	chr4:7633800-7646000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:7634200-7635600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:7634400-7635600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:7634600-7635200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
19	chr4:7634600-7635200	Enhancers	HepG2	liver
20	chr4:7634600-7635600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr4:7634600-7644200	Weak transcription	Brain Substantia Nigra	brain
22	chr4:7634600-7644800	Weak transcription	Brain Angular Gyrus	brain
23	chr4:7634600-7645000	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:7634800-7635000	Enhancers	NHLF	lung
25	chr4:7634800-7635200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:7634800-7635200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr4:7634800-7635200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:7634800-7635200	Enhancers	Fetal Brain Female	brain
29	chr4:7634800-7635400	Enhancers	HUES48 Cell Line	embryonic stem cell

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