Variant report

Variant	rs544129394
Chromosome Location	chr10:21822536-21822537
allele	A/G
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	CREB1	chr10:21822445-21823413	GM12878	blood:	n/a	n/a
2	CTCF	chr10:21822400-21822550	GM12871	blood:	n/a	n/a
3	MXI1	chr10:21822393-21823289	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:21821815-21823484	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr10:21821958-21823243	HUVEC	blood vessel:	n/a	n/a
6	PAX5	chr10:21822449-21823198	GM12878	blood:	n/a	chr10:21822681-21822698
7	POLR2A	chr10:21822271-21824042	H1-neurons	neurons:	n/a	n/a
8	UBTF	chr10:21821908-21823225	K562	blood:	n/a	n/a
9	POLR2A	chr10:21822101-21824003	GM12892	blood:	n/a	n/a
10	MYBL2	chr10:21822070-21823204	HepG2	liver:	n/a	n/a
11	POLR2A	chr10:21822284-21823006	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr10:21822520-21822670	A549	lung:	n/a	n/a
13	REST	chr10:21822367-21822962	A549	lung:	n/a	n/a
14	ETS1	chr10:21822305-21822939	A549	lung:	n/a	chr10:21822855-21822866
15	CHD2	chr10:21822394-21823869	Hela-S3	cervix:	n/a	chr10:21822855-21822865 chr10:21823239-21823249 chr10:21822999-21823009
16	TBL1XR1	chr10:21822311-21823244	GM12878	blood:	n/a	n/a
17	TRIM28	chr10:21822287-21823073	K562	blood:	n/a	n/a
18	ZNF143	chr10:21822427-21823023	K562	blood:	n/a	n/a
19	POLR2A	chr10:21822326-21822992	HepG2	liver:	n/a	n/a
20	RCOR1	chr10:21822462-21823296	Hela-S3	cervix:	n/a	n/a
21	EP300	chr10:21822528-21823227	GM12878	blood:	n/a	chr10:21823142-21823151 chr10:21822899-21822915 chr10:21822988-21822997 chr10:21822976-21822992
22	SIN3A	chr10:21822372-21824754	H1-hESC	embryonic stem cell:	n/a	chr10:21823095-21823106 chr10:21824304-21824315 chr10:21822916-21822927 chr10:21823860-21823871
23	POLR2A	chr10:21821917-21823221	PBDE	blood:	n/a	n/a
24	IRF1	chr10:21822036-21823240	K562	blood:	n/a	n/a
25	EP300	chr10:21822245-21823508	SK-N-SH	brain:	n/a	chr10:21823142-21823151 chr10:21822899-21822915 chr10:21822988-21822997 chr10:21822976-21822992
26	REST	chr10:21822474-21822875	PFSK-1	brain:	n/a	n/a
27	REST	chr10:21822414-21823263	K562	blood:	n/a	chr10:21823217-21823230 chr10:21823214-21823227
28	EP300	chr10:21822382-21822972	A549	lung:	n/a	chr10:21822899-21822915
29	MXI1	chr10:21822229-21824982	IMR90	lung:	n/a	n/a
30	POU2F2	chr10:21822431-21822969	GM12891	blood:	n/a	chr10:21822916-21822928 chr10:21822861-21822873 chr10:21822903-21822915
31	CREB1	chr10:21822387-21823467	A549	lung:	n/a	n/a
32	E2F6	chr10:21822270-21822996	A549	lung:	n/a	chr10:21822985-21822994
33	ELF1	chr10:21822360-21823397	HepG2	liver:	n/a	chr10:21823094-21823103 chr10:21823142-21823154 chr10:21822988-21822997
34	POLR2A	chr10:21822264-21823756	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr10:21821994-21823028	U87	brain:	n/a	n/a
36	CHD2	chr10:21822183-21823199	K562	blood:	n/a	chr10:21822855-21822865 chr10:21822999-21823009
37	ZNF263	chr10:21822242-21823394	HEK293-T-REx	kidney:	n/a	chr10:21823130-21823139
38	TAF1	chr10:21822315-21823478	HepG2	liver:	n/a	n/a
39	MAZ	chr10:21822089-21824554	K562	blood:	n/a	chr10:21824231-21824241 chr10:21823920-21823929
40	POLR2A	chr10:21822090-21823752	PFSK-1	brain:	n/a	n/a
41	HCFC1	chr10:21822187-21823277	K562	blood:	n/a	n/a
42	HMGN3	chr10:21822484-21823247	K562	blood:	n/a	n/a
43	HDAC2	chr10:21822291-21823385	HepG2	liver:	n/a	n/a
44	FOXA1	chr10:21822284-21822776	HepG2	liver:	n/a	n/a
45	MAX	chr10:21822502-21824512	K562	blood:	n/a	chr10:21824231-21824241 chr10:21823920-21823929
46	MAX	chr10:21822317-21823910	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr10:21822076-21823435	K562	blood:	n/a	n/a
48	RAD21	chr10:21822271-21822867	HepG2	liver:	n/a	chr10:21822808-21822818 chr10:21822763-21822772
49	RELA	chr10:21822298-21823189	GM19193	blood:	n/a	n/a
50	EP300	chr10:21822289-21822936	A549	lung:	n/a	chr10:21822899-21822915

No.	Distal block	Cell Line	Cell type
1	chr10:21821191..21822728-chr10:22232911..22234926,2	MCF-7	breast:
2	chr10:21822396..21823232-chr20:50727562..50728298,2	MCF-7	breast:
3	chr10:21814321..21814920-chr10:21822442..21823074,2	Hela-S3	cervix:
4	chr10:21763967..21765915-chr10:21820410..21823036,2	MCF-7	breast:
5	chr10:21784105..21788419-chr10:21820020..21825934,15	K562	blood:
6	chr1:6844565..6845211-chr10:21822402..21823399,2	NB4	blood:
7	chr10:21784774..21789957-chr10:21820858..21826220,9	MCF-7	breast:
8	chr10:21821950..21822940-chr11:65728654..65729654,2	HCT-116	colon:
9	chr10:21784405..21786921-chr10:21820578..21824484,6	MCF-7	breast:
10	chr10:21822045..21822922-chr14:50065370..50066027,2	Hela-S3	cervix:

Variant related genes	Relation type
MLLT10	TF binding region
ENSG00000222071	Chromatin interaction
ENSG00000180592	Chromatin interaction
ENSG00000204682	Chromatin interaction
ENSG00000253459	Chromatin interaction
ENSG00000165501	Chromatin interaction
ENSG00000233347	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000237436	Chromatin interaction
ENSG00000213741	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825284	chr10:21739527-21847437	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv825285	chr10:21742026-21874334	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv825286	chr10:21757784-21838890	Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
4	nsv825288	chr10:21759085-21831354	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
5	nsv825289	chr10:21762506-21845875	Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
6	nsv527055	chr10:21764019-21822856	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
7	nsv825290	chr10:21777857-21830878	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
8	nsv894936	chr10:21781589-21827796	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
9	nsv550200	chr10:21782842-21824727	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
10	nsv894937	chr10:21782842-21827796	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
11	nsv517469	chr10:21783634-21822856	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
12	nsv894938	chr10:21784899-21827796	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
13	nsv894939	chr10:21789406-21830104	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	nsv825291	chr10:21792100-21830946	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
15	nsv894940	chr10:21796081-21823525	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
16	nsv550201	chr10:21796081-21824727	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
17	nsv894941	chr10:21796081-21827796	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
18	nsv894942	chr10:21798241-21823525	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
19	nsv894943	chr10:21798241-21824619	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
20	nsv894944	chr10:21798241-21827796	Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
21	nsv894945	chr10:21798241-21830104	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
22	nsv894946	chr10:21798241-21831215	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
23	nsv1052477	chr10:21810270-21889726	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
24	esv3422795	chr10:21821971-21825319	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
25	esv3327865	chr10:21822171-21824869	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:21821200-21822600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr10:21821200-21822800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr10:21821200-21824600	Active TSS	Psoas Muscle	Psoas
4	chr10:21821400-21824400	Active TSS	A549	lung
5	chr10:21821600-21822600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr10:21821600-21822600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr10:21821600-21822600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr10:21821600-21822600	Flanking Active TSS	NHEK	skin
9	chr10:21821600-21822800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr10:21821600-21822800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr10:21821600-21824400	Active TSS	Stomach Smooth Muscle	stomach
12	chr10:21821600-21824400	Active TSS	K562	blood
13	chr10:21821800-21822600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr10:21821800-21822600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr10:21821800-21822600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr10:21821800-21822600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr10:21821800-21822600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:21821800-21822600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr10:21821800-21822600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr10:21821800-21822600	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr10:21821800-21822600	Flanking Active TSS	Fetal Lung	lung
22	chr10:21821800-21822600	Active TSS	Right Atrium	heart
23	chr10:21821800-21822600	Flanking Active TSS	Dnd41	blood
24	chr10:21821800-21822600	Flanking Active TSS	NHDF-Ad	bronchial
25	chr10:21821800-21822800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr10:21821800-21822800	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr10:21821800-21822800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr10:21821800-21822800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr10:21821800-21822800	Flanking Active TSS	HUVEC	blood vessel
30	chr10:21821800-21824200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr10:21821800-21824600	Active TSS	Colonic Mucosa	Colon
32	chr10:21821800-21824800	Active TSS	Aorta	Aorta
33	chr10:21821800-21824800	Active TSS	Right Ventricle	heart
34	chr10:21821800-21824800	Active TSS	Thymus	Thymus
35	chr10:21822000-21822600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr10:21822000-21822600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr10:21822000-21822600	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr10:21822000-21822600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr10:21822000-21822600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr10:21822000-21822600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr10:21822000-21822600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr10:21822000-21822600	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr10:21822000-21822600	Flanking Active TSS	Fetal Thymus	thymus
44	chr10:21822000-21822600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr10:21822000-21822600	Flanking Active TSS	Hela-S3	cervix
46	chr10:21822000-21822600	Flanking Active TSS	HMEC	breast
47	chr10:21822000-21822600	Flanking Active TSS	HSMM	muscle
48	chr10:21822000-21822600	Flanking Active TSS	NHLF	lung
49	chr10:21822000-21822600	Flanking Active TSS	Osteobl	bone
50	chr10:21822000-21822800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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