Variant report

Variant	rs6847389
Chromosome Location	chr4:7631148-7631149
allele	C/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)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13129876	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs34369999	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67364316	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67667114	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71601866	0.90[AFR][1000 genomes];0.95[AMR][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	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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7618000-7632200	Weak transcription	Right Atrium	heart
2	chr4:7624000-7631200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:7627400-7631600	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:7627400-7631800	Weak transcription	Brain Angular Gyrus	brain
5	chr4:7627400-7631800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:7627400-7631800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:7627400-7631800	Weak transcription	Brain Substantia Nigra	brain
8	chr4:7627400-7631800	Weak transcription	Left Ventricle	heart
9	chr4:7627400-7632400	Weak transcription	Brain Anterior Caudate	brain
10	chr4:7627600-7631600	Weak transcription	Right Ventricle	heart
11	chr4:7627600-7631800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:7627600-7632000	Weak transcription	Osteobl	bone
13	chr4:7628200-7632400	Weak transcription	Fetal Brain Female	brain
14	chr4:7629400-7631800	Weak transcription	HUVEC	blood vessel
15	chr4:7629800-7631600	Weak transcription	Ovary	ovary
16	chr4:7629800-7631600	Enhancers	HepG2	liver
17	chr4:7629800-7631600	Weak transcription	HSMMtube	muscle
18	chr4:7629800-7631800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:7629800-7631800	Weak transcription	HSMM	muscle
20	chr4:7630000-7631200	Weak transcription	Fetal Brain Male	brain
21	chr4:7630800-7632200	Weak transcription	Brain Germinal Matrix	brain
22	chr4:7631000-7631400	Weak transcription	NH-A	brain

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