Variant report

Variant	rs73930594
Chromosome Location	chr19:38984921-38984922
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	MAX	chr19:38984761-38985491	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr19:38984853-38985434	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:38984014..38986656-chr19:38996185..38997730,2	K562	blood:
2	chr19:38983873..38985504-chr19:38985807..38987480,2	MCF-7	breast:
3	chr19:38983899..38986656-chr19:38994778..38998627,3	K562	blood:

Variant related genes	Relation type
RYR1	TF binding region
ENSG00000196218	Chromatin interaction

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

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

rs_ID	r²[population]
rs11878553	1.00[AMR][1000 genomes]
rs11881994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58776402	1.00[AMR][1000 genomes]
rs59703889	1.00[AMR][1000 genomes]
rs73930591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv911659	chr19:38852357-39002140	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers 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	41 gene(s)	inside rSNPs	diseases
6	nsv833823	chr19:38855550-39035800	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	nsv911663	chr19:38899548-39101879	Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv833824	chr19:38914618-39084758	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	esv1816081	chr19:38919971-39050479	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv911664	chr19:38924814-39048163	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv911665	chr19:38924814-39101879	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	nsv833826	chr19:38945106-39184547	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	nsv911666	chr19:38948356-39014184	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38934800-39005600	Strong transcription	Fetal Muscle Leg	muscle
2	chr19:38938600-38987600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr19:38940000-39006400	Weak transcription	HSMM	muscle
4	chr19:38947600-38997400	Strong transcription	Fetal Muscle Trunk	muscle
5	chr19:38960400-38994600	Weak transcription	Brain Angular Gyrus	brain
6	chr19:38960800-39034400	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr19:38963000-39033000	Strong transcription	Skeletal Muscle Male	skeletal muscle
8	chr19:38975800-38985000	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr19:38975800-38996600	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr19:38976800-38986800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:38976800-39005400	Weak transcription	Brain Anterior Caudate	brain
12	chr19:38977200-38996600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:38979000-38985000	Weak transcription	Gastric	stomach
14	chr19:38981400-38992400	Strong transcription	HSMMtube	muscle
15	chr19:38981600-39005600	Weak transcription	Brain Substantia Nigra	brain
16	chr19:38981800-38989200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr19:38981800-39005400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr19:38982200-39005600	Weak transcription	Brain Hippocampus Middle	brain
19	chr19:38982400-38987400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr19:38982400-38997400	Weak transcription	Pancreas	Pancrea
21	chr19:38983200-38991800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr19:38983800-38985000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr19:38984400-38985200	Strong transcription	Psoas Muscle	Psoas
24	chr19:38984600-38985400	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr19:38984600-38985400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr19:38984800-38985000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr19:38984800-38985200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr19:38984800-38985200	Genic enhancers	HUES64 Cell Line	embryonic stem cell
29	chr19:38984800-38985400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
30	chr19:38984800-38985400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:38984800-38989200	Strong transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links