Variant report

Variant	rs7288867
Chromosome Location	chr22:29876374-29876375
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	MXI1	chr22:29875358-29878062	SK-N-SH	brain:	n/a	chr22:29877653-29877662
2	MAX	chr22:29876032-29877340	H1-hESC	embryonic stem cell:	n/a	chr22:29876117-29876127
3	MAX	chr22:29875941-29876532	ECC-1	luminal epithelium:	n/a	chr22:29876117-29876127
4	YY1	chr22:29876087-29876414	ECC-1	luminal epithelium:	n/a	chr22:29876163-29876177 chr22:29876114-29876128 chr22:29876166-29876175 chr22:29876097-29876108
5	POLR2A	chr22:29875929-29877897	K562	blood:	n/a	n/a
6	YY1	chr22:29876087-29876389	ECC-1	luminal epithelium:	n/a	chr22:29876163-29876177 chr22:29876114-29876128 chr22:29876166-29876175 chr22:29876097-29876108
7	E2F6	chr22:29875674-29878117	H1-hESC	embryonic stem cell:	n/a	chr22:29877137-29877146 chr22:29876212-29876224
8	TCF12	chr22:29875971-29876577	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr22:29876020-29876418	K562	blood:	n/a	n/a
10	MAX	chr22:29875977-29876521	ECC-1	luminal epithelium:	n/a	chr22:29876117-29876127
11	ZNF143	chr22:29876341-29877960	H1-hESC	embryonic stem cell:	n/a	chr22:29877209-29877219
12	POLR2A	chr22:29876062-29876433	GM19099	blood:	n/a	n/a
13	MYC	chr22:29876181-29877973	K562	blood:	n/a	chr22:29877654-29877663
14	POLR2A	chr22:29876062-29876401	H1-hESC	embryonic stem cell:	n/a	n/a
15	E2F6	chr22:29876088-29877393	K562	blood:	n/a	chr22:29877137-29877146 chr22:29876212-29876224
16	POLR2A	chr22:29876057-29876442	K562	blood:	n/a	n/a
17	MAX	chr22:29876079-29877944	K562	blood:	n/a	chr22:29876117-29876127 chr22:29877654-29877663
18	BACH1	chr22:29876282-29878043	H1-hESC	embryonic stem cell:	n/a	n/a
19	E2F6	chr22:29875801-29877672	H1-hESC	embryonic stem cell:	n/a	chr22:29877137-29877146 chr22:29876212-29876224
20	ZNF263	chr22:29875978-29876375	HEK293-T-REx	kidney:	n/a	chr22:29876128-29876137 chr22:29876103-29876112 chr22:29876101-29876122
21	TBP	chr22:29876013-29876383	K562	blood:	n/a	chr22:29876178-29876189
22	POLR2A	chr22:29876034-29876445	ECC-1	luminal epithelium:	n/a	n/a
23	E2F6	chr22:29876097-29877368	K562	blood:	n/a	chr22:29877137-29877146 chr22:29876212-29876224
24	YY1	chr22:29876049-29876466	K562	blood:	n/a	chr22:29876163-29876177 chr22:29876114-29876128 chr22:29876049-29876060 chr22:29876166-29876175 chr22:29876097-29876108
25	POLR2A	chr22:29876017-29876496	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr22:29876093-29876390	ECC-1	luminal epithelium:	n/a	n/a
27	HEY1	chr22:29876096-29876417	K562	blood:	n/a	n/a
28	CTBP2	chr22:29876063-29877320	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr22:29876147-29877975	H1-hESC	embryonic stem cell:	n/a	chr22:29877654-29877663
30	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
31	POLR2A	chr22:29876046-29876417	K562	blood:	n/a	n/a
32	MAX	chr22:29875631-29878091	H1-hESC	embryonic stem cell:	n/a	chr22:29876117-29876127 chr22:29877654-29877663
33	POLR2A	chr22:29876052-29876444	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:29876363-29876413	HRE	kidney:	n/a
2	chr22:29876363-29876413	GM12878	blood:	n/a
3	chr22:29876363-29876413	IMR90	lung:	fetal
4	chr22:29876363-29876413	Hepatocyte	liver:	n/a
5	chr22:29876363-29876413	HCM	heart:	n/a
6	chr22:29876363-29876413	NHDF-neo	bronchial:	n/a
7	chr22:29876363-29876413	GM19239	blood:	n/a
8	chr22:29876363-29876413	AG04449	skin:	fetal
9	chr22:29876363-29876413	MCF10A-Er-Src	breast:	n/a
10	chr22:29876363-29876413	NB4	blood:	n/a
11	chr22:29876363-29876413	HRPEpiC	eye:	n/a
12	chr22:29876363-29876413	ovcar-3	ovarian:	n/a
13	chr22:29876363-29876413	AG09319	gingival:	n/a
14	chr22:29876363-29876413	PANC-1	pancreas:	n/a
15	chr22:29876363-29876413	HRCEpiC	kidney:	n/a
16	chr22:29876363-29876413	SK-N-SH_RA	brain:	n/a
17	chr22:29876363-29876413	BE2_C	brain:	n/a
18	chr22:29876363-29876413	HCT-116	colon:	n/a
19	chr22:29876363-29876413	GM06990	blood:	n/a
20	chr22:29876363-29876413	NH-A	brain:	n/a
21	chr22:29876363-29876413	GM12892	blood:	n/a
22	chr22:29876363-29876413	HAEpiC	amniotic membrane:	n/a
23	chr22:29876363-29876413	Hela-S3	cervix:	n/a
24	chr22:29876363-29876413	SK-N-SH	brain:	n/a
25	chr22:29876363-29876413	LNCaP	prostate:	n/a
26	chr22:29876363-29876413	GM12891	blood:	n/a
27	chr22:29876363-29876413	ECC-1	luminal epithelium:	n/a
28	chr22:29876363-29876413	AG04450	lung:	fetal
29	chr22:29876363-29876413	H1-hESC	embryonic stem cell:	embryo
30	chr22:29876363-29876413	HNPCEpiC	eye:	n/a
31	chr22:29876363-29876413	SAEC	small airway:	n/a
32	chr22:29876363-29876413	PFSK-1	brain:	n/a
33	chr22:29876363-29876413	HMEC	breast:	n/a
34	chr22:29876363-29876413	U87	brain:	n/a
35	chr22:29876363-29876413	MCF-7	breast:	n/a
36	chr22:29876363-29876413	PrEC	prostate:	n/a
37	chr22:29876363-29876413	HEK293	kidney:	embryo
38	chr22:29876363-29876413	CMK	blood:	n/a
39	chr22:29876363-29876413	HCPEpiC	choroid plexus:	n/a
40	chr22:29876363-29876413	K562	blood:	n/a
41	chr22:29876363-29876413	Caco-2	colon:	n/a
42	chr22:29876363-29876413	NT2-D1	testis:	n/a
43	chr22:29876363-29876413	AG09309	skin:	n/a
44	chr22:29876363-29876413	HIPEpiC	eye:	n/a
45	chr22:29876363-29876413	HPAEpiC	pulmonary alveolar:	n/a
46	chr22:29876363-29876413	HUVEC	blood vessel:	n/a
47	chr22:29876363-29876413	HEEpiC	esophagus:	n/a
48	chr22:29876363-29876413	HL-60	blood:	n/a
49	chr22:29876363-29876413	T-47D	breast:	n/a
50	chr22:29876363-29876413	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29783197..29785326-chr22:29874558..29877420,2	MCF-7	breast:
2	chr22:29873715..29877046-chr22:29940798..29944268,3	K562	blood:

Variant related genes	Relation type
RFPL1S	TF binding region
RFPL1S	CpG island
ENSG00000100280	Chromatin interaction
ENSG00000100296	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12106532	0.86[AFR][1000 genomes]
rs16987656	0.84[AFR][1000 genomes]
rs59206935	0.89[AFR][1000 genomes]
rs60232534	0.86[AFR][1000 genomes]
rs7287198	0.91[AFR][1000 genomes]
rs7292380	0.91[AFR][1000 genomes]
rs73881526	0.84[AFR][1000 genomes]
rs73881535	0.91[AFR][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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29873800-29876400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
2	chr22:29873800-29877800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
3	chr22:29873800-29877800	Bivalent Enhancer	Placenta	Placenta
4	chr22:29874200-29876400	Bivalent Enhancer	Fetal Stomach	stomach
5	chr22:29874400-29877000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr22:29874400-29877600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr22:29874400-29877600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr22:29874600-29876400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr22:29874600-29877400	Active TSS	Brain Anterior Caudate	brain
10	chr22:29874600-29878000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
11	chr22:29874800-29876400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr22:29874800-29876400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
13	chr22:29874800-29877800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
14	chr22:29875000-29878000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
15	chr22:29875200-29877600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr22:29875400-29876400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
17	chr22:29875400-29876800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr22:29875600-29876400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
19	chr22:29875600-29876600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr22:29875600-29876800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
21	chr22:29875600-29877600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr22:29875600-29877600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr22:29875600-29877600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr22:29875600-29877600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
25	chr22:29875600-29877800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:29875800-29876400	Bivalent Enhancer	Primary B cells from cord blood	blood
27	chr22:29875800-29876400	Bivalent Enhancer	Fetal Intestine Small	intestine
28	chr22:29875800-29876400	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr22:29875800-29876600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
30	chr22:29875800-29876800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr22:29875800-29877200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
32	chr22:29875800-29877200	Bivalent/Poised TSS	HSMM	muscle
33	chr22:29875800-29877600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
34	chr22:29875800-29877600	Flanking Bivalent TSS/Enh	HMEC	breast
35	chr22:29875800-29877800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr22:29875800-29878000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
37	chr22:29875800-29878000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
38	chr22:29875800-29878000	Enhancers	Pancreas	Pancrea
39	chr22:29875800-29878000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
40	chr22:29875800-29878200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr22:29875800-29878200	Bivalent Enhancer	Fetal Lung	lung
42	chr22:29875800-29878200	Flanking Active TSS	Ovary	ovary
43	chr22:29876000-29876400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr22:29876000-29876400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr22:29876000-29876400	Bivalent Enhancer	Lung	lung
46	chr22:29876000-29876400	Active TSS	Right Atrium	heart
47	chr22:29876000-29876600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
48	chr22:29876000-29876600	Flanking Bivalent TSS/Enh	Spleen	Spleen
49	chr22:29876000-29876800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
50	chr22:29876000-29877000	Enhancers	Gastric	stomach

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