Variant report

Variant	rs5998733
Chromosome Location	chr22:21982011-21982012
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:21980580-21984939	K562	blood:	n/a	n/a
2	TEAD4	chr22:21976201-21984706	K562	blood:	n/a	n/a
3	TEAD4	chr22:21977696-21986166	K562	blood:	n/a	n/a
4	POLR2A	chr22:21976305-21982761	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr22:21980276-21982034	GM12891	blood:	n/a	n/a
6	HEY1	chr22:21977795-21984628	K562	blood:	n/a	n/a
7	POLR2A	chr22:21981488-21982034	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr22:21976269-21982981	A549	lung:	n/a	n/a
9	POLR2A	chr22:21976223-21984606	K562	blood:	n/a	n/a
10	POLR2A	chr22:21980351-21982060	GM12891	blood:	n/a	n/a
11	POLR2A	chr22:21977419-21982052	GM12891	blood:	n/a	n/a
12	POLR2A	chr22:21976386-21982078	HL-60	blood:	n/a	n/a
13	JUN	chr22:21976109-21986271	K562	blood:	n/a	chr22:21983081-21983090
14	POLR2A	chr22:21981839-21982029	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr22:21976174-21984634	K562	blood:	n/a	n/a
16	POLR2A	chr22:21980397-21984636	K562	blood:	n/a	n/a
17	POLR2A	chr22:21976363-21984673	K562	blood:	n/a	n/a
18	POLR2A	chr22:21977461-21982089	GM12878	blood:	n/a	n/a
19	HEY1	chr22:21977709-21984698	K562	blood:	n/a	n/a
20	NR2F2	chr22:21977562-21986158	K562	blood:	n/a	n/a
21	POLR2A	chr22:21976295-21984646	K562	blood:	n/a	n/a
22	POLR2A	chr22:21976464-21984662	K562	blood:	n/a	n/a
23	PML	chr22:21977939-21984707	K562	blood:	n/a	n/a
24	PML	chr22:21976079-21986039	K562	blood:	n/a	n/a
25	POLR2A	chr22:21976238-21984609	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT5A	chr22:21977034-21985884	K562	blood:	n/a	chr22:21985195-21985206 chr22:21979662-21979669 chr22:21981631-21981643 chr22:21978473-21978481
27	POLR2A	chr22:21977253-21982162	GM12892	blood:	n/a	n/a
28	POLR2A	chr22:21978678-21982153	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr22:21977714-21982633	PANC-1	pancreas:	n/a	n/a
30	POLR2A	chr22:21976205-21984578	K562	blood:	n/a	n/a
31	TRIM28	chr22:21977375-21986097	K562	blood:	n/a	n/a
32	POLR2A	chr22:21976287-21982657	GM12891	blood:	n/a	n/a
33	CEBPD	chr22:21976351-21985845	K562	blood:	n/a	chr22:21979266-21979277
34	POLR2A	chr22:21976190-21984623	K562	blood:	n/a	n/a
35	POLR2A	chr22:21977630-21982015	HL-60	blood:	n/a	n/a
36	POLR2A	chr22:21976401-21984623	K562	blood:	n/a	n/a
37	POLR2A	chr22:21977678-21982013	Hela-S3	cervix:	n/a	n/a
38	CBX3	chr22:21981931-21988144	K562	blood:	n/a	chr22:21985726-21985737
39	NR2F2	chr22:21980471-21986172	K562	blood:	n/a	n/a
40	BCLAF1	chr22:21978245-21984667	K562	blood:	n/a	n/a
41	POLR2A	chr22:21976378-21984668	K562	blood:	n/a	n/a
42	POLR2A	chr22:21976306-21984593	SK-N-MC	brain:	n/a	n/a
43	POLR2A	chr22:21978306-21982997	HepG2	liver:	n/a	n/a
44	HDAC2	chr22:21981990-21984646	K562	blood:	n/a	chr22:21982232-21982246
45	POLR2A	chr22:21981957-21982699	GM12878	blood:	n/a	n/a
46	ETS1	chr22:21980327-21984648	K562	blood:	n/a	chr22:21983200-21983210

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:21981138..21983094-chr22:22301398..22303697,2	K562	blood:
2	chr22:21979187..21986650-chr22:21993296..22001177,21	MCF-7	breast:
3	chr17:57920551..57922161-chr22:21979706..21982473,2	K562	blood:
4	chr10:74034031..74036947-chr22:21981036..21982548,2	K562	blood:
5	chr2:197034205..197037096-chr22:21979390..21982259,2	K562	blood:
6	chr22:21979975..21982573-chr22:22086401..22089371,3	K562	blood:
7	chr22:21979602..21983329-chr22:22291845..22295097,4	K562	blood:
8	chr22:21353932..21358932-chr22:21981928..21985927,5	K562	blood:
9	chr22:21979671..21985739-chr22:22220007..22225195,6	K562	blood:
10	chr22:21979643..21982522-chr22:22334996..22337250,2	K562	blood:
11	chr22:21921034..21925776-chr22:21981790..21988067,8	MCF-7	breast:
12	chr22:21981633..21983674-chr6:27098645..27101130,2	K562	blood:
13	chr22:21908736..21910357-chr22:21980107..21982427,2	K562	blood:
14	chr22:21981855..21982688-chr22:21997015..21997547,2	K562	blood:
15	chr22:21799659..21804135-chr22:21977326..21984068,6	K562	blood:
16	chr22:19465446..19467625-chr22:21981920..21983974,2	K562	blood:
17	chr22:21801167..21803147-chr22:21981640..21983614,2	K562	blood:

No data

Variant related genes	Relation type
CCDC116	TF binding region
ENSG00000100034	Chromatin interaction
ENSG00000230513	Chromatin interaction
ENSG00000128228	Chromatin interaction
ENSG00000100038	Chromatin interaction
ENSG00000070010	Chromatin interaction
ENSG00000100030	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000184436	Chromatin interaction
ENSG00000081320	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000269926	Chromatin interaction
ENSG00000185651	Chromatin interaction
ENSG00000093009	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000273342	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12160982	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16984988	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17004026	1.00[EUR][1000 genomes]
rs2194827	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28436610	1.00[EUR][1000 genomes]
rs55771333	1.00[EUR][1000 genomes]
rs58384889	1.00[EUR][1000 genomes]
rs5994603	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5994629	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998534	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998537	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998640	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998657	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998662	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998690	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61757961	1.00[EUR][1000 genomes]
rs61763373	1.00[EUR][1000 genomes]
rs61763394	1.00[EUR][1000 genomes]
rs7289600	1.00[EUR][1000 genomes]
rs73384145	1.00[EUR][1000 genomes]
rs8139523	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
2	nsv482690	chr22:21807513-22016791	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
3	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
4	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
5	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
6	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
7	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
8	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
9	nsv914464	chr22:21964761-22039863	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
10	nsv914465	chr22:21964761-22055280	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
11	nsv914466	chr22:21964761-22057273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
12	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21939600-21983200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:21966400-21982800	Weak transcription	Small Intestine	intestine
3	chr22:21969000-21982400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr22:21969000-21983400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr22:21973600-21982400	Strong transcription	Thymus	Thymus
6	chr22:21974000-21983400	Weak transcription	Fetal Kidney	kidney
7	chr22:21974800-21982400	Strong transcription	Fetal Intestine Small	intestine
8	chr22:21976800-21983200	Weak transcription	Ovary	ovary
9	chr22:21976800-21983200	Weak transcription	HSMM	muscle
10	chr22:21977000-21983200	Weak transcription	NHDF-Ad	bronchial
11	chr22:21977600-21982800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr22:21977600-21983200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:21977800-21982400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr22:21977800-21982600	Weak transcription	NH-A	brain
15	chr22:21977800-21983000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr22:21978000-21982200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr22:21978000-21982200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr22:21978000-21982200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr22:21978000-21983200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr22:21978000-21983200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr22:21978200-21982400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr22:21978200-21983200	Genic enhancers	Primary T cells fromperipheralblood	blood
23	chr22:21978400-21982400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr22:21978400-21982400	Weak transcription	HepG2	liver
25	chr22:21978400-21982600	Weak transcription	Colonic Mucosa	Colon
26	chr22:21978400-21983200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr22:21978400-21983200	Weak transcription	Osteobl	bone
28	chr22:21978400-21983400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr22:21978400-21983400	Weak transcription	Fetal Lung	lung
30	chr22:21978600-21982600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr22:21978600-21982600	Weak transcription	HUVEC	blood vessel
32	chr22:21978800-21982200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr22:21978800-21983200	Genic enhancers	Primary B cells from peripheral blood	blood
34	chr22:21978800-21983400	Weak transcription	Aorta	Aorta
35	chr22:21979000-21982200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr22:21979000-21982200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
37	chr22:21979000-21982600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr22:21979000-21983200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr22:21979200-21982200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr22:21979200-21982200	Weak transcription	Stomach Mucosa	stomach
41	chr22:21979200-21982400	Strong transcription	Fetal Thymus	thymus
42	chr22:21979200-21982400	Strong transcription	NHEK	skin
43	chr22:21979200-21982600	Weak transcription	Liver	Liver
44	chr22:21979200-21982800	Weak transcription	Fetal Heart	heart
45	chr22:21979200-21983200	Strong transcription	Fetal Stomach	stomach
46	chr22:21979400-21982600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr22:21979400-21983200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr22:21979400-21983200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr22:21979400-21983400	Weak transcription	Colon Smooth Muscle	Colon
50	chr22:21979400-21983400	Weak transcription	HSMMtube	muscle

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