Variant report

Variant	rs73382335
Chromosome Location	chr22:22011566-22011567
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:212)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:212 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr22:22011037-22012814	K562	blood:	n/a	chr22:22011872-22011882
2	POLR2A	chr22:22010757-22013057	HepG2	liver:	n/a	n/a
3	POLR2A	chr22:22010788-22012887	K562	blood:	n/a	n/a
4	TAF1	chr22:22011463-22012300	K562	blood:	n/a	n/a
5	HA-E2F1	chr22:22011522-22012709	MCF-7	breast:	n/a	chr22:22011842-22011851 chr22:22012323-22012335 chr22:22011968-22011977 chr22:22011879-22011888 chr22:22012195-22012209
6	RCOR1	chr22:22010894-22012316	K562	blood:	n/a	n/a
7	ZBTB7A	chr22:22011516-22012416	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr22:22011460-22013054	HepG2	liver:	n/a	n/a
9	ZNF143	chr22:22011433-22012312	GM12878	blood:	n/a	n/a
10	MAX	chr22:22010915-22012372	K562	blood:	n/a	n/a
11	MXI1	chr22:22011527-22012771	HepG2	liver:	n/a	n/a
12	POLR2A	chr22:22011469-22012287	HepG2	liver:	n/a	n/a
13	POLR2A	chr22:22010937-22013070	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr22:22011544-22011829	HepG2	liver:	n/a	n/a
15	POLR2A	chr22:22011160-22011873	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr22:22011379-22012264	HCT-116	colon:	n/a	n/a
17	POLR2A	chr22:22010706-22013104	K562	blood:	n/a	n/a
18	MYC	chr22:22010935-22012324	K562	blood:	n/a	n/a
19	MXI1	chr22:22011310-22012770	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr22:22011094-22012434	U87	brain:	n/a	n/a
21	GABPA	chr22:22010948-22013121	K562	blood:	n/a	chr22:22011787-22011801 chr22:22011842-22011851
22	POLR2A	chr22:22011207-22012742	HepG2	liver:	n/a	n/a
23	MAX	chr22:22011563-22012295	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr22:22011133-22012851	HUVEC	blood vessel:	n/a	n/a
25	ELF1	chr22:22011494-22012866	K562	blood:	n/a	chr22:22011869-22011881 chr22:22011993-22012005
26	MXI1	chr22:22011276-22012259	GM12878	blood:	n/a	n/a
27	POLR2A	chr22:22011345-22012770	HUVEC	blood vessel:	n/a	n/a
28	CTBP2	chr22:22011312-22012688	H1-hESC	embryonic stem cell:	n/a	n/a
29	NR2F2	chr22:22011483-22012273	MCF-7	breast:	n/a	n/a
30	GTF2B	chr22:22011260-22011916	K562	blood:	n/a	n/a
31	POLR2A	chr22:22011396-22012745	MCF-7	breast:	n/a	n/a
32	RCOR1	chr22:22010900-22012201	K562	blood:	n/a	n/a
33	TEAD4	chr22:22010067-22013120	K562	blood:	n/a	n/a
34	REST	chr22:22010751-22012375	K562	blood:	n/a	chr22:22012224-22012237 chr22:22011508-22011521 chr22:22012153-22012166
35	PML	chr22:22010613-22012287	K562	blood:	n/a	n/a
36	POLR2A	chr22:22011259-22012988	GM12878	blood:	n/a	n/a
37	SETDB1	chr22:22011298-22012843	K562	blood:	n/a	n/a
38	MAX	chr22:22011183-22012299	K562	blood:	n/a	n/a
39	CTCF	chr22:22011540-22011690	GM12873	blood:	n/a	n/a
40	E2F6	chr22:22011463-22013037	H1-hESC	embryonic stem cell:	n/a	chr22:22011842-22011851 chr22:22012323-22012335 chr22:22011968-22011977 chr22:22011879-22011888 chr22:22012195-22012209
41	ZMIZ1	chr22:22010910-22012289	K562	blood:	n/a	n/a
42	POLR2A	chr22:22010868-22012940	K562	blood:	n/a	n/a
43	POLR2A	chr22:22011562-22012147	A549	lung:	n/a	n/a
44	TEAD4	chr22:22010722-22013097	K562	blood:	n/a	n/a
45	ZNF143	chr22:22010978-22012293	K562	blood:	n/a	n/a
46	POLR2A	chr22:22011158-22012353	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr22:22010837-22012214	GM12892	blood:	n/a	n/a
48	POLR2A	chr22:22010955-22012758	HepG2	liver:	n/a	n/a
49	POLR2A	chr22:22010892-22012963	GM19099	blood:	n/a	n/a
50	MTA3	chr22:22011366-22012744	GM12878	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:21983192..21984464-chr22:22011235..22012398,3	K562	blood:
2	chr22:22009908..22011578-chr22:22291965..22294169,2	K562	blood:
3	chr22:22011227..22012370-chr22:22292220..22293363,4	K562	blood:
4	chr22:22011088..22014764-chr22:22088779..22092551,4	K562	blood:
5	chr22:21992086..21994401-chr22:22010428..22012823,2	MCF-7	breast:
6	chr22:21982609..21984758-chr22:22010076..22013251,4	MCF-7	breast:
7	chr22:22011367..22012289-chr22:22039368..22040162,2	K562	blood:
8	chr16:3070409..3070959-chr22:22011327..22011969,2	NB4	blood:
9	chr22:22009862..22011858-chr22:22305848..22308013,2	K562	blood:
10	chr22:22011149..22013585-chr22:22335702..22337428,2	K562	blood:
11	chr22:21982705..21984645-chr22:22010803..22012365,2	MCF-7	breast:
12	chr22:22000176..22001700-chr22:22010564..22012742,9	K562	blood:
13	chr22:22009565..22013226-chr22:22291661..22294169,4	K562	blood:
14	chr22:22008392..22011858-chr22:22305848..22308742,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272954	TF binding region
ENSG00000100038	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000100023	Chromatin interaction
ENSG00000100027	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000161179	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73382331	0.84[AFR][1000 genomes]
rs73382344	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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
13	nsv914467	chr22:21982892-22055280	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
14	nsv914468	chr22:21982892-22070489	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	365 gene(s)	inside rSNPs	diseases
15	esv3456722	chr22:21993383-22019246	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 gene(s)	inside rSNPs	diseases
16	esv3456723	chr22:21993399-22019258	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 gene(s)	inside rSNPs	diseases
17	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22006800-22011600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr22:22006800-22012000	Weak transcription	Liver	Liver
3	chr22:22007600-22019800	Weak transcription	Fetal Heart	heart
4	chr22:22008000-22011600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr22:22008400-22012000	Weak transcription	NHDF-Ad	bronchial
6	chr22:22008800-22011600	Weak transcription	HSMM	muscle
7	chr22:22008800-22011600	Weak transcription	NHLF	lung
8	chr22:22009000-22011600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr22:22009200-22011600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:22009400-22012000	Weak transcription	Fetal Lung	lung
11	chr22:22009600-22011600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr22:22010200-22011600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:22010600-22011600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr22:22010800-22011600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr22:22010800-22011600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr22:22010800-22011600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr22:22010800-22011600	Enhancers	Fetal Thymus	thymus
18	chr22:22010800-22011600	Transcr. at gene 5' and 3'	K562	blood
19	chr22:22010800-22011800	Flanking Active TSS	Dnd41	blood
20	chr22:22010800-22012000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr22:22011000-22011600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr22:22011000-22011600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr22:22011000-22011600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr22:22011000-22011600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr22:22011000-22011600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr22:22011000-22011600	Bivalent Enhancer	Adipose Nuclei	Adipose
27	chr22:22011000-22011600	Enhancers	Pancreas	Pancrea
28	chr22:22011000-22011600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr22:22011000-22011600	Flanking Active TSS	HepG2	liver
30	chr22:22011000-22011800	Enhancers	Primary hematopoietic stem cells	blood
31	chr22:22011000-22011800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr22:22011000-22011800	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr22:22011000-22012800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr22:22011000-22012800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr22:22011000-22012800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr22:22011200-22011600	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:22011200-22011600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr22:22011200-22011600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr22:22011200-22011600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr22:22011200-22011600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr22:22011200-22011600	Flanking Active TSS	Fetal Brain Female	brain
42	chr22:22011200-22011600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
43	chr22:22011200-22011600	Strong transcription	Right Atrium	heart
44	chr22:22011200-22011600	Flanking Active TSS	A549	lung
45	chr22:22011200-22011800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr22:22011200-22011800	Flanking Active TSS	Placenta	Placenta
47	chr22:22011200-22011800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr22:22011200-22011800	Flanking Active TSS	GM12878-XiMat	blood
49	chr22:22011200-22012400	Active TSS	HSMMtube	muscle
50	chr22:22011200-22012800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links