Variant report

Variant	rs73881534
Chromosome Location	chr22:29874021-29874022
allele	A/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	REST	chr22:29873937-29874231	PANC-1	pancreas:	n/a	chr22:29874180-29874189
2	BACH1	chr22:29873931-29874298	H1-hESC	embryonic stem cell:	n/a	n/a
3	REST	chr22:29873916-29875515	U87	brain:	n/a	chr22:29874670-29874684 chr22:29874664-29874684 chr22:29874664-29874673 chr22:29874667-29874680 chr22:29874672-29874682 chr22:29874664-29874684 chr22:29874665-29874683 chr22:29874664-29874684 chr22:29874180-29874189
4	REST	chr22:29873863-29875121	SK-N-SH	brain:	n/a	chr22:29874670-29874684 chr22:29874664-29874684 chr22:29874664-29874673 chr22:29874667-29874680 chr22:29874672-29874682 chr22:29874664-29874684 chr22:29874665-29874683 chr22:29874664-29874684 chr22:29874180-29874189
5	REST	chr22:29873986-29875289	H1-hESC	embryonic stem cell:	n/a	chr22:29874670-29874684 chr22:29874664-29874684 chr22:29874664-29874673 chr22:29874667-29874680 chr22:29874672-29874682 chr22:29874664-29874684 chr22:29874665-29874683 chr22:29874664-29874684 chr22:29874180-29874189
6	ZNF263	chr22:29873981-29874341	HEK293-T-REx	kidney:	n/a	chr22:29874137-29874146 chr22:29874139-29874160
7	REST	chr22:29873896-29875162	PFSK-1	brain:	n/a	chr22:29874670-29874684 chr22:29874664-29874684 chr22:29874664-29874673 chr22:29874667-29874680 chr22:29874672-29874682 chr22:29874664-29874684 chr22:29874665-29874683 chr22:29874664-29874684 chr22:29874180-29874189
8	REST	chr22:29874019-29875106	PANC-1	pancreas:	n/a	chr22:29874670-29874684 chr22:29874664-29874684 chr22:29874664-29874673 chr22:29874667-29874680 chr22:29874672-29874682 chr22:29874664-29874684 chr22:29874665-29874683 chr22:29874664-29874684 chr22:29874180-29874189
9	MAFF	chr22:29873947-29874241	K562	blood:	n/a	n/a
10	REST	chr22:29873775-29875378	PFSK-1	brain:	n/a	chr22:29874670-29874684 chr22:29874664-29874684 chr22:29874664-29874673 chr22:29874667-29874680 chr22:29874672-29874682 chr22:29874664-29874684 chr22:29874665-29874683 chr22:29874664-29874684 chr22:29874180-29874189
11	REST	chr22:29873919-29875187	K562	blood:	n/a	chr22:29874670-29874684 chr22:29874664-29874684 chr22:29874664-29874673 chr22:29874667-29874680 chr22:29874672-29874682 chr22:29874664-29874684 chr22:29874665-29874683 chr22:29874664-29874684 chr22:29874180-29874189
12	MAZ	chr22:29873999-29874868	K562	blood:	n/a	chr22:29874642-29874651
13	ZNF143	chr22:29874014-29874267	H1-hESC	embryonic stem cell:	n/a	n/a
14	REST	chr22:29873719-29876257	ECC-1	luminal epithelium:	n/a	chr22:29874670-29874684 chr22:29876114-29876127 chr22:29874664-29874684 chr22:29876194-29876204 chr22:29874664-29874673 chr22:29874667-29874680 chr22:29874672-29874682 chr22:29874664-29874684 chr22:29874665-29874683 chr22:29874664-29874684 chr22:29874180-29874189 chr22:29876192-29876206
15	REST	chr22:29873870-29875517	U87	brain:	n/a	chr22:29874670-29874684 chr22:29874664-29874684 chr22:29874664-29874673 chr22:29874667-29874680 chr22:29874672-29874682 chr22:29874664-29874684 chr22:29874665-29874683 chr22:29874664-29874684 chr22:29874180-29874189
16	RCOR1	chr22:29874020-29874197	K562	blood:	n/a	n/a
17	REST	chr22:29873746-29875512	A549	lung:	n/a	chr22:29874670-29874684 chr22:29874664-29874684 chr22:29874664-29874673 chr22:29874667-29874680 chr22:29874672-29874682 chr22:29874664-29874684 chr22:29874665-29874683 chr22:29874664-29874684 chr22:29874180-29874189
18	BACH1	chr22:29873953-29874359	K562	blood:	n/a	n/a
19	MXI1	chr22:29873451-29875094	SK-N-SH	brain:	n/a	n/a
20	REST	chr22:29873747-29876490	ECC-1	luminal epithelium:	n/a	chr22:29874670-29874684 chr22:29876114-29876127 chr22:29874664-29874684 chr22:29876194-29876204 chr22:29874664-29874673 chr22:29874667-29874680 chr22:29874672-29874682 chr22:29874664-29874684 chr22:29874665-29874683 chr22:29874664-29874684 chr22:29874180-29874189 chr22:29876192-29876206
21	REST	chr22:29873788-29876008	HL-60	blood:	n/a	chr22:29874670-29874684 chr22:29874664-29874684 chr22:29874664-29874673 chr22:29874667-29874680 chr22:29874672-29874682 chr22:29874664-29874684 chr22:29874665-29874683 chr22:29874664-29874684 chr22:29874180-29874189
22	MAFK	chr22:29873938-29874277	K562	blood:	n/a	chr22:29874127-29874142
23	MAFK	chr22:29873961-29874255	H1-hESC	embryonic stem cell:	n/a	chr22:29874127-29874142

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29873715..29877046-chr22:29940798..29944268,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-THOC5-1	chr22:29873999-29874059	ENSG00000224381.1
2	lnc-AP1B1-1	chr22:29873999-29874115	NONHSAT084700
3	lnc-AP1B1-1	chr22:29873999-29874133	NONHSAT084704
4	lnc-AP1B1-1	chr22:29873999-29874164	ENSG00000225465.6

Variant related genes	Relation type
NEFH	TF binding region
ENSG00000100296	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs56166000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56255240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56344321	1.00[AMR][1000 genomes]
rs56360627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60550593	1.00[AFR][1000 genomes]
rs60759347	1.00[AMR][1000 genomes]
rs61098773	0.83[AFR][1000 genomes]
rs61310930	1.00[AMR][1000 genomes]
rs73881514	1.00[AFR][1000 genomes]
rs73881518	1.00[AFR][1000 genomes]
rs73881519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881537	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881546	0.83[AFR][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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS 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 miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1062039	chr22:29854861-29889201	Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv438344	chr22:29856079-29886043	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29868200-29874200	Weak transcription	Ovary	ovary
2	chr22:29868400-29874200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr22:29871600-29874400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr22:29872200-29874200	Active TSS	Brain Angular Gyrus	brain
5	chr22:29873000-29874200	Active TSS	Brain Cingulate Gyrus	brain
6	chr22:29873200-29874200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr22:29873200-29875400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr22:29873400-29874200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr22:29873400-29874400	Flanking Active TSS	Brain Germinal Matrix	brain
10	chr22:29873400-29875800	Enhancers	K562	blood
11	chr22:29873600-29874200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr22:29873600-29874400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr22:29873600-29874800	Enhancers	Brain Substantia Nigra	brain
14	chr22:29873600-29874800	Flanking Active TSS	Fetal Brain Female	brain
15	chr22:29873600-29875000	Enhancers	Dnd41	blood
16	chr22:29873600-29875600	Enhancers	Fetal Brain Male	brain
17	chr22:29873800-29874200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
18	chr22:29873800-29874200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr22:29873800-29874200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr22:29873800-29874200	Enhancers	Hela-S3	cervix
21	chr22:29873800-29874400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr22:29873800-29874600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr22:29873800-29874600	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr22:29873800-29874600	Flanking Active TSS	A549	lung
25	chr22:29873800-29874600	Bivalent Enhancer	HSMMtube	muscle
26	chr22:29873800-29874800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:29873800-29875600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr22:29873800-29875800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
29	chr22:29873800-29876200	Bivalent Enhancer	Adipose Nuclei	Adipose
30	chr22:29873800-29876400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
31	chr22:29873800-29877800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
32	chr22:29873800-29877800	Bivalent Enhancer	Placenta	Placenta
33	chr22:29874000-29874200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
34	chr22:29874000-29874200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
35	chr22:29874000-29874200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr22:29874000-29874200	Enhancers	Spleen	Spleen
37	chr22:29874000-29874400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
38	chr22:29874000-29874400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
39	chr22:29874000-29874400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
40	chr22:29874000-29874600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
41	chr22:29874000-29874600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr22:29874000-29874800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr22:29874000-29875200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:29874000-29876200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links