Variant report

Variant	rs7287198
Chromosome Location	chr22:29876548-29876549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

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	chr22:29876542-29877409	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr22:29875929-29877897	K562	blood:	n/a	n/a
5	E2F6	chr22:29875674-29878117	H1-hESC	embryonic stem cell:	n/a	chr22:29877137-29877146 chr22:29876212-29876224
6	TCF12	chr22:29875971-29876577	ECC-1	luminal epithelium:	n/a	n/a
7	ZNF143	chr22:29876341-29877960	H1-hESC	embryonic stem cell:	n/a	chr22:29877209-29877219
8	TCF12	chr22:29876538-29876910	H1-hESC	embryonic stem cell:	n/a	n/a
9	NRF1	chr22:29876483-29877798	SK-N-SH	brain:	n/a	chr22:29877136-29877147 chr22:29877136-29877150
10	MYC	chr22:29876181-29877973	K562	blood:	n/a	chr22:29877654-29877663
11	E2F6	chr22:29876088-29877393	K562	blood:	n/a	chr22:29877137-29877146 chr22:29876212-29876224
12	MAX	chr22:29876079-29877944	K562	blood:	n/a	chr22:29876117-29876127 chr22:29877654-29877663
13	GTF2F1	chr22:29876441-29877161	H1-hESC	embryonic stem cell:	n/a	n/a
14	SETDB1	chr22:29876378-29877183	K562	blood:	n/a	n/a
15	BACH1	chr22:29876282-29878043	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZNF143	chr22:29876385-29876573	K562	blood:	n/a	n/a
17	E2F6	chr22:29875801-29877672	H1-hESC	embryonic stem cell:	n/a	chr22:29877137-29877146 chr22:29876212-29876224
18	POLR2A	chr22:29876382-29877262	H1-neurons	neurons:	n/a	n/a
19	CTCF	chr22:29876520-29876670	SK-N-SH_RA	brain:	n/a	n/a
20	E2F6	chr22:29876097-29877368	K562	blood:	n/a	chr22:29877137-29877146 chr22:29876212-29876224
21	REST	chr22:29876533-29877434	HL-60	blood:	n/a	chr22:29877171-29877184
22	RCOR1	chr22:29876505-29877388	K562	blood:	n/a	n/a
23	CTBP2	chr22:29876063-29877320	H1-hESC	embryonic stem cell:	n/a	n/a
24	CREB1	chr22:29876533-29877398	H1-hESC	embryonic stem cell:	n/a	n/a
25	GABPA	chr22:29876524-29877363	K562	blood:	n/a	chr22:29877136-29877147 chr22:29877136-29877150
26	MAX	chr22:29876147-29877975	H1-hESC	embryonic stem cell:	n/a	chr22:29877654-29877663
27	MAX	chr22:29875631-29878091	H1-hESC	embryonic stem cell:	n/a	chr22:29876117-29876127 chr22:29877654-29877663
28	JUN	chr22:29876546-29877482	K562	blood:	n/a	n/a
29	E2F6	chr22:29876527-29877274	K562	blood:	n/a	chr22:29877137-29877146

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:29876534-29876584	ProgFib	skin:	n/a
2	chr22:29876534-29876584	HCT-116	colon:	n/a
3	chr22:29876534-29876584	AG10803	skin:	n/a
4	chr22:29876534-29876584	ECC-1	luminal epithelium:	n/a
5	chr22:29876534-29876584	Caco-2	colon:	n/a
6	chr22:29876534-29876584	NB4	blood:	n/a
7	chr22:29876534-29876584	AG09309	skin:	n/a
8	chr22:29876534-29876584	HCPEpiC	choroid plexus:	n/a
9	chr22:29876534-29876584	NHDF-neo	bronchial:	n/a
10	chr22:29876534-29876584	HMEC	breast:	n/a
11	chr22:29876534-29876584	HCF	heart:	n/a
12	chr22:29876534-29876584	PANC-1	pancreas:	n/a
13	chr22:29876534-29876584	BE2_C	brain:	n/a
14	chr22:29876534-29876584	RPTEC	kidney:	n/a
15	chr22:29876534-29876584	BJ	skin:	n/a
16	chr22:29876534-29876584	GM12891	blood:	n/a
17	chr22:29876534-29876584	HCM	heart:	n/a
18	chr22:29876534-29876584	SKMC	muscle:	n/a
19	chr22:29876534-29876584	HAEpiC	amniotic membrane:	n/a
20	chr22:29876534-29876584	K562	blood:	n/a
21	chr22:29876534-29876584	Hepatocyte	liver:	n/a
22	chr22:29876534-29876584	HRCEpiC	kidney:	n/a
23	chr22:29876534-29876584	PrEC	prostate:	n/a
24	chr22:29876534-29876584	T-47D	breast:	n/a
25	chr22:29876534-29876584	GM19239	blood:	n/a
26	chr22:29876534-29876584	GM12892	blood:	n/a
27	chr22:29876534-29876584	SAEC	small airway:	n/a
28	chr22:29876534-29876584	HRPEpiC	eye:	n/a
29	chr22:29876534-29876584	HPAEpiC	pulmonary alveolar:	n/a
30	chr22:29876534-29876584	SK-N-SH	brain:	n/a
31	chr22:29876534-29876584	NH-A	brain:	n/a
32	chr22:29876534-29876584	SK-N-MC	brain:	n/a
33	chr22:29876534-29876584	GM12878	blood:	n/a
34	chr22:29876534-29876584	SK-N-SH_RA	brain:	n/a
35	chr22:29876534-29876584	NHBE	bronchial:	n/a
36	chr22:29876534-29876584	NT2-D1	testis:	n/a
37	chr22:29876534-29876584	ovcar-3	ovarian:	n/a
38	chr22:29876534-29876584	PFSK-1	brain:	n/a
39	chr22:29876534-29876584	HRE	kidney:	n/a
40	chr22:29876534-29876584	CMK	blood:	n/a
41	chr22:29876534-29876584	AG04449	skin:	fetal
42	chr22:29876534-29876584	AoSMC	blood vessel:	n/a
43	chr22:29876534-29876584	AG04450	lung:	fetal
44	chr22:29876534-29876584	A549	lung:	n/a
45	chr22:29876534-29876584	HEEpiC	esophagus:	n/a
46	chr22:29876534-29876584	AG09319	gingival:	n/a
47	chr22:29876534-29876584	MCF-7	breast:	n/a
48	chr22:29876534-29876584	GM06990	blood:	n/a
49	chr22:29876534-29876584	LNCaP	prostate:	n/a
50	chr22:29876534-29876584	HepG2	liver:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29783197..29785326-chr22:29874558..29877420,2	MCF-7	breast:
2	chr22:29865857..29867643-chr22:29876448..29878393,2	MCF-7	breast:
3	chr22:29873715..29877046-chr22:29940798..29944268,3	K562	blood:

No data

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

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12106532	1.00[ASW][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16987656	0.92[YRI][hapmap];0.92[AFR][1000 genomes]
rs59206935	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60232534	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7288867	0.91[AFR][1000 genomes]
rs7292380	0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881526	0.92[AFR][1000 genomes]
rs73881535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9941913	0.91[ASW][hapmap]

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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29873800-29877800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
2	chr22:29873800-29877800	Bivalent Enhancer	Placenta	Placenta
3	chr22:29874400-29877000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr22:29874400-29877600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr22:29874400-29877600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr22:29874600-29877400	Active TSS	Brain Anterior Caudate	brain
7	chr22:29874600-29878000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
8	chr22:29874800-29877800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
9	chr22:29875000-29878000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
10	chr22:29875200-29877600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr22:29875400-29876800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr22:29875600-29876600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr22:29875600-29876800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
14	chr22:29875600-29877600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr22:29875600-29877600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr22:29875600-29877600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:29875600-29877600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
18	chr22:29875600-29877800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:29875800-29876600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
20	chr22:29875800-29876800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr22:29875800-29877200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr22:29875800-29877200	Bivalent/Poised TSS	HSMM	muscle
23	chr22:29875800-29877600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
24	chr22:29875800-29877600	Flanking Bivalent TSS/Enh	HMEC	breast
25	chr22:29875800-29877800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr22:29875800-29878000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
27	chr22:29875800-29878000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr22:29875800-29878000	Enhancers	Pancreas	Pancrea
29	chr22:29875800-29878000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
30	chr22:29875800-29878200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr22:29875800-29878200	Bivalent Enhancer	Fetal Lung	lung
32	chr22:29875800-29878200	Flanking Active TSS	Ovary	ovary
33	chr22:29876000-29876600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
34	chr22:29876000-29876600	Flanking Bivalent TSS/Enh	Spleen	Spleen
35	chr22:29876000-29876800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
36	chr22:29876000-29877000	Enhancers	Gastric	stomach
37	chr22:29876000-29877200	Bivalent Enhancer	Liver	Liver
38	chr22:29876000-29877200	Bivalent Enhancer	Fetal Brain Male	brain
39	chr22:29876000-29877200	Bivalent Enhancer	Fetal Heart	heart
40	chr22:29876000-29877400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr22:29876000-29877400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr22:29876000-29877400	Bivalent/Poised TSS	Fetal Brain Female	brain
43	chr22:29876000-29877600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr22:29876000-29877600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr22:29876000-29877600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr22:29876000-29877600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr22:29876000-29877600	Active TSS	K562	blood
48	chr22:29876000-29877800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr22:29876000-29877800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr22:29876000-29878000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion

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