Variant report

Variant	rs60092221
Chromosome Location	chr19:36358923-36358924
allele	C/G
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	NRF1	chr19:36358803-36359869	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr19:36358456-36361435	A549	lung:	n/a	chr19:36359844-36359854 chr19:36359284-36359292
3	MAX	chr19:36358923-36361482	A549	lung:	n/a	chr19:36360713-36360723 chr19:36360373-36360382 chr19:36360805-36360815
4	REST	chr19:36358896-36359356	A549	lung:	n/a	n/a
5	REST	chr19:36358766-36361303	H1-neurons	neurons:	n/a	chr19:36360778-36360788 chr19:36360770-36360790 chr19:36360770-36360790 chr19:36360776-36360790
6	MXI1	chr19:36358552-36361464	SK-N-SH	brain:	n/a	chr19:36360367-36360382 chr19:36360325-36360340 chr19:36360369-36360384 chr19:36360417-36360432
7	REST	chr19:36358852-36359376	A549	lung:	n/a	n/a
8	MAZ	chr19:36358900-36359808	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36358705..36361314-chr19:36484649..36486725,2	K562	blood:
2	chr19:36358531..36360792-chr19:36503749..36506105,2	MCF-7	breast:
3	chr19:36208378..36210285-chr19:36358548..36361708,3	K562	blood:
4	chr19:36208185..36209878-chr19:36358146..36361161,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NPHS1-3	chr19:36358777-36359032	NONHSAT065928

Variant related genes	Relation type
APLP1	TF binding region
ENSG00000267698	Chromatin interaction
ENSG00000239382	Chromatin interaction
ENSG00000205138	Chromatin interaction
ENSG00000272333	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2267590	1.00[ASN][1000 genomes]
rs370644	0.90[AMR][1000 genomes]
rs435259	0.90[AMR][1000 genomes]
rs435605	0.90[AMR][1000 genomes]
rs442219	0.90[AMR][1000 genomes]
rs446014	0.90[AMR][1000 genomes]
rs451846	0.80[AMR][1000 genomes]
rs670091	0.90[AMR][1000 genomes]
rs7253616	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs807659	0.90[AMR][1000 genomes]
rs8106827	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	esv3397651	chr19:36326933-36377725	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
9	nsv911639	chr19:36342909-36365985	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv911640	chr19:36353880-36365985	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36352200-36359000	Weak transcription	Right Atrium	heart
2	chr19:36353600-36359400	Weak transcription	Gastric	stomach
3	chr19:36356800-36359000	Weak transcription	Esophagus	oesophagus
4	chr19:36358000-36359000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:36358400-36359000	Enhancers	Fetal Brain Male	brain
6	chr19:36358400-36359400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:36358600-36359000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr19:36358600-36359000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:36358600-36359000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:36358600-36359000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:36358600-36359000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:36358600-36359000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr19:36358600-36359000	Enhancers	Brain Angular Gyrus	brain
14	chr19:36358600-36359000	Enhancers	Brain Cingulate Gyrus	brain
15	chr19:36358600-36359200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr19:36358600-36359200	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr19:36358600-36359200	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr19:36358600-36359200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr19:36358600-36359400	Enhancers	Pancreas	Pancrea
20	chr19:36358800-36359000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
21	chr19:36358800-36359000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr19:36358800-36359000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
23	chr19:36358800-36359200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:36358800-36359200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:36358800-36359200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
26	chr19:36358800-36359200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
27	chr19:36358800-36359200	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr19:36358800-36359200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:36358800-36359200	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr19:36358800-36359200	Flanking Active TSS	Fetal Brain Female	brain
31	chr19:36358800-36359200	Bivalent Enhancer	Dnd41	blood
32	chr19:36358800-36359400	Enhancers	Lung	lung
33	chr19:36358800-36359400	Flanking Active TSS	A549	lung
34	chr19:36358800-36359600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
35	chr19:36358800-36359600	Bivalent Enhancer	Fetal Stomach	stomach
36	chr19:36358800-36359800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr19:36358800-36360000	Enhancers	Spleen	Spleen
38	chr19:36358800-36360800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr19:36358800-36361400	Active TSS	H9 Cell Line	embryonic stem cell
40	chr19:36358800-36361400	Bivalent Enhancer	Placenta	Placenta

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