Variant report

Variant	rs73881537
Chromosome Location	chr22:29877860-29877861
allele	G/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	MXI1	chr22:29875358-29878062	SK-N-SH	brain:	n/a	chr22:29877653-29877662
2	EP300	chr22:29877606-29878096	H1-hESC	embryonic stem cell:	n/a	n/a
3	TCF12	chr22:29877731-29877938	H1-hESC	embryonic stem cell:	n/a	chr22:29877783-29877793
4	NANOG	chr22:29877574-29877905	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr22:29876718-29877888	K562	blood:	n/a	n/a
6	MAFK	chr22:29877715-29878000	HepG2	liver:	n/a	n/a
7	CTCF	chr22:29877825-29877897	MCF-7	breast:	n/a	n/a
8	JUN	chr22:29877750-29878039	H1-hESC	embryonic stem cell:	n/a	n/a
9	JUND	chr22:29877675-29877900	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr22:29875929-29877897	K562	blood:	n/a	n/a
11	E2F6	chr22:29875674-29878117	H1-hESC	embryonic stem cell:	n/a	chr22:29877137-29877146 chr22:29876212-29876224
12	POLR2A	chr22:29877846-29877903	H1-hESC	embryonic stem cell:	n/a	n/a
13	CCNT2	chr22:29877774-29877862	K562	blood:	n/a	chr22:29877810-29877819
14	NR2F2	chr22:29877701-29878000	K562	blood:	n/a	n/a
15	CTCF	chr22:29877782-29877946	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTBP2	chr22:29877603-29878003	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAFK	chr22:29877588-29878045	H1-hESC	embryonic stem cell:	n/a	n/a
18	TAF1	chr22:29877653-29877966	H1-hESC	embryonic stem cell:	n/a	n/a
19	JUND	chr22:29877721-29877966	K562	blood:	n/a	n/a
20	ZNF143	chr22:29876341-29877960	H1-hESC	embryonic stem cell:	n/a	chr22:29877209-29877219
21	MYC	chr22:29876181-29877973	K562	blood:	n/a	chr22:29877654-29877663
22	MXI1	chr22:29877546-29877913	H1-hESC	embryonic stem cell:	n/a	chr22:29877653-29877662
23	GATA3	chr22:29877653-29878104	MCF-7	breast:	n/a	n/a
24	RAD21	chr22:29877554-29878029	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr22:29876079-29877944	K562	blood:	n/a	chr22:29876117-29876127 chr22:29877654-29877663
26	BACH1	chr22:29876282-29878043	H1-hESC	embryonic stem cell:	n/a	n/a
27	NR2F2	chr22:29877539-29878035	MCF-7	breast:	n/a	n/a
28	MAZ	chr22:29877707-29877885	Hela-S3	cervix:	n/a	n/a
29	SP1	chr22:29877535-29878070	H1-hESC	embryonic stem cell:	n/a	chr22:29877808-29877820 chr22:29877808-29877819 chr22:29877809-29877819 chr22:29877809-29877823 chr22:29877809-29877818 chr22:29877810-29877819 chr22:29877808-29877820
30	YY1	chr22:29877466-29877947	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr22:29877630-29877960	K562	blood:	n/a	n/a
32	MAFK	chr22:29877674-29877936	IMR90	lung:	n/a	n/a
33	RXRA	chr22:29877696-29878056	H1-hESC	embryonic stem cell:	n/a	n/a
34	RAD21	chr22:29877620-29877998	H1-hESC	embryonic stem cell:	n/a	n/a
35	MYC	chr22:29876592-29877977	K562	blood:	n/a	chr22:29877654-29877663
36	POLR2A	chr22:29877763-29877880	H1-hESC	embryonic stem cell:	n/a	n/a
37	TCF12	chr22:29877597-29878055	H1-hESC	embryonic stem cell:	n/a	chr22:29877783-29877793
38	CHD2	chr22:29876574-29877980	H1-hESC	embryonic stem cell:	n/a	chr22:29877153-29877163
39	EP300	chr22:29877620-29877954	H1-hESC	embryonic stem cell:	n/a	n/a
40	EP300	chr22:29877759-29877930	K562	blood:	n/a	n/a
41	TCF7L2	chr22:29877553-29877998	HCT-116	colon:	n/a	chr22:29877748-29877762 chr22:29877751-29877760
42	MAFK	chr22:29877666-29877899	Hela-S3	cervix:	n/a	n/a
43	GTF2F1	chr22:29877794-29877938	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr22:29877825-29877971	K562	blood:	n/a	n/a
45	MAFK	chr22:29877695-29877941	HepG2	liver:	n/a	n/a
46	EP300	chr22:29877573-29878133	MCF-7	breast:	n/a	n/a
47	SP1	chr22:29877582-29878051	H1-hESC	embryonic stem cell:	n/a	chr22:29877808-29877820 chr22:29877808-29877819 chr22:29877809-29877819 chr22:29877809-29877823 chr22:29877809-29877818 chr22:29877810-29877819 chr22:29877808-29877820
48	JUND	chr22:29877627-29878063	H1-hESC	embryonic stem cell:	n/a	n/a
49	MAFF	chr22:29877702-29877942	HepG2	liver:	n/a	chr22:29877832-29877850
50	MAFK	chr22:29877667-29878011	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:29877072..29879814-chr22:29891846..29894236,2	MCF-7	breast:
2	chr22:29877857..29880129-chr22:29887823..29890747,2	MCF-7	breast:
3	chr22:29877350..29878233-chr22:29913108..29913740,2	MCF-7	breast:
4	chr22:29877541..29878058-chr22:29914348..29915105,2	MCF-7	breast:
5	chr22:29866168..29866984-chr22:29877594..29878224,2	K562	blood:
6	chr22:29876809..29879806-chr22:29881526..29883122,2	K562	blood:
7	chr22:29866353..29868086-chr22:29877604..29879531,2	K562	blood:
8	chr22:29781578..29782726-chr22:29877337..29878344,7	MCF-7	breast:
9	chr22:29877412..29878391-chr22:29912701..29914203,38	MCF-7	breast:
10	chr22:29877386..29878406-chr22:29912849..29914254,52	MCF-7	breast:
11	chr22:29876640..29878874-chr22:29919748..29922123,2	K562	blood:
12	chr22:29865857..29867643-chr22:29876448..29878393,2	MCF-7	breast:
13	chr22:29781864..29782673-chr22:29877575..29878342,2	MCF-7	breast:
14	chr22:29877043..29879359-chr22:29911623..29914922,6	MCF-7	breast:
15	chr22:29877422..29878326-chr22:29912754..29914005,18	MCF-7	breast:
16	chr22:29663630..29665723-chr22:29877193..29880137,2	K562	blood:

Variant related genes	Relation type
RFPL1S	TF binding region
ENSG00000182944	Chromatin interaction
ENSG00000100263	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs56166000	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56255240	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56344321	1.00[AMR][1000 genomes]
rs56360627	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60550593	0.85[AFR][1000 genomes]
rs60759347	1.00[AMR][1000 genomes]
rs61310930	1.00[AMR][1000 genomes]
rs73881514	0.85[AFR][1000 genomes]
rs73881518	0.85[AFR][1000 genomes]
rs73881519	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881527	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881529	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881530	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881531	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881533	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881534	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
11	esv3371117	chr22:29874452-29879050	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29874600-29878000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
2	chr22:29875000-29878000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
3	chr22:29875800-29878000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
4	chr22:29875800-29878000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr22:29875800-29878000	Enhancers	Pancreas	Pancrea
6	chr22:29875800-29878000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
7	chr22:29875800-29878200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr22:29875800-29878200	Bivalent Enhancer	Fetal Lung	lung
9	chr22:29875800-29878200	Flanking Active TSS	Ovary	ovary
10	chr22:29876000-29878000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
11	chr22:29876000-29878200	Bivalent Enhancer	Stomach Mucosa	stomach
12	chr22:29876200-29878000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr22:29876600-29878000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr22:29876600-29878200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
15	chr22:29876800-29878000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr22:29877000-29878000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
17	chr22:29877000-29878000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
18	chr22:29877200-29878000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr22:29877200-29878400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
20	chr22:29877200-29878800	Enhancers	Spleen	Spleen
21	chr22:29877400-29878000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:29877400-29878000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr22:29877400-29878000	Bivalent Enhancer	Adipose Nuclei	Adipose
24	chr22:29877400-29878200	Enhancers	A549	lung
25	chr22:29877400-29878200	Flanking Active TSS	HSMM	muscle
26	chr22:29877400-29878400	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr22:29877400-29878400	Enhancers	Lung	lung
28	chr22:29877400-29900600	Weak transcription	Right Atrium	heart
29	chr22:29877600-29878000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr22:29877600-29878000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr22:29877600-29878000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr22:29877600-29878000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
33	chr22:29877600-29878000	Bivalent Enhancer	Brain Anterior Caudate	brain
34	chr22:29877600-29878000	Enhancers	Fetal Brain Male	brain
35	chr22:29877600-29878000	Flanking Active TSS	Fetal Brain Female	brain
36	chr22:29877600-29878200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
37	chr22:29877600-29878400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
38	chr22:29877600-29878400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
39	chr22:29877600-29878400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
40	chr22:29877600-29878400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr22:29877600-29878600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
42	chr22:29877600-29878600	Bivalent Enhancer	HepG2	liver
43	chr22:29877600-29878800	Enhancers	HSMMtube	muscle
44	chr22:29877800-29878000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr22:29877800-29878000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
46	chr22:29877800-29878000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr22:29877800-29878000	Bivalent Enhancer	Brain Germinal Matrix	brain
48	chr22:29877800-29878000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
49	chr22:29877800-29878000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
50	chr22:29877800-29878000	Bivalent Enhancer	Fetal Intestine Small	intestine

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