Variant report

Variant	rs73361751
Chromosome Location	chr21:40721950-40721951
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:140)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:140 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:40721258-40722114	HL-60	blood:	n/a	n/a
2	MTA3	chr21:40721256-40722732	GM12878	blood:	n/a	n/a
3	POLR2A	chr21:40720321-40722997	K562	blood:	n/a	n/a
4	TBL1XR1	chr21:40721287-40722811	K562	blood:	n/a	n/a
5	MAX	chr21:40721170-40721999	K562	blood:	n/a	n/a
6	MAZ	chr21:40720171-40722416	GM12878	blood:	n/a	n/a
7	TAF1	chr21:40721191-40722259	MCF-7	breast:	n/a	n/a
8	POLR2A	chr21:40720101-40723328	K562	blood:	n/a	n/a
9	MXI1	chr21:40720324-40721953	HepG2	liver:	n/a	n/a
10	POLR2A	chr21:40721178-40722057	GM12878	blood:	n/a	n/a
11	POLR2A	chr21:40719451-40723014	GM12878	blood:	n/a	n/a
12	REST	chr21:40719476-40722011	H1-neurons	neurons:	n/a	chr21:40721572-40721585 chr21:40721572-40721585
13	POLR2A	chr21:40716164-40723345	K562	blood:	n/a	n/a
14	TEAD4	chr21:40721177-40722666	K562	blood:	n/a	chr21:40722106-40722115
15	ELF1	chr21:40721132-40722351	MCF-7	breast:	n/a	chr21:40721489-40721502
16	SIN3AK20	chr21:40719291-40722472	MCF-7	breast:	n/a	n/a
17	YY1	chr21:40721333-40722035	K562	blood:	n/a	n/a
18	MXI1	chr21:40719317-40721951	IMR90	lung:	n/a	n/a
19	POLR2A	chr21:40719983-40722069	GM12878	blood:	n/a	n/a
20	BHLHE40	chr21:40720268-40722040	K562	blood:	n/a	n/a
21	MAX	chr21:40721154-40722801	MCF-7	breast:	n/a	n/a
22	POLR2A	chr21:40721217-40721981	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr21:40721197-40722106	SK-N-MC	brain:	n/a	n/a
24	PML	chr21:40721175-40722098	GM12878	blood:	n/a	n/a
25	GABPA	chr21:40720750-40721995	MCF-7	breast:	n/a	chr21:40721583-40721594 chr21:40721580-40721594 chr21:40721583-40721592 chr21:40721583-40721597 chr21:40721170-40721179
26	POLR2A	chr21:40721208-40722087	PFSK-1	brain:	n/a	n/a
27	BACH1	chr21:40720334-40721954	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr21:40720173-40721958	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr21:40720291-40722386	NB4	blood:	n/a	n/a
30	MAX	chr21:40721114-40722093	HepG2	liver:	n/a	n/a
31	POLR2A	chr21:40721241-40721976	K562	blood:	n/a	n/a
32	YY1	chr21:40721537-40722072	GM12892	blood:	n/a	n/a
33	MAX	chr21:40721154-40721971	ECC-1	luminal epithelium:	n/a	n/a
34	ZNF384	chr21:40721364-40722387	K562	blood:	n/a	n/a
35	TEAD4	chr21:40721232-40721996	K562	blood:	n/a	n/a
36	MYC	chr21:40719529-40722622	K562	blood:	n/a	n/a
37	RCOR1	chr21:40720861-40722037	K562	blood:	n/a	n/a
38	POLR2A	chr21:40720095-40722140	PFSK-1	brain:	n/a	n/a
39	POLR2A	chr21:40719377-40722068	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr21:40721203-40721958	U87	brain:	n/a	n/a
41	POLR2A	chr21:40720312-40721975	MCF10A-Er-Src	breast:	n/a	n/a
42	PML	chr21:40721244-40722030	K562	blood:	n/a	n/a
43	BCLAF1	chr21:40721488-40722037	GM12878	blood:	n/a	n/a
44	POLR2A	chr21:40721124-40721982	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr21:40720156-40722146	MCF10A-Er-Src	breast:	n/a	n/a
46	TAF1	chr21:40721201-40721998	K562	blood:	n/a	n/a
47	REST	chr21:40721255-40722065	HL-60	blood:	n/a	chr21:40721572-40721585 chr21:40721572-40721585
48	POLR2A	chr21:40721209-40722088	K562	blood:	n/a	n/a
49	POLR2A	chr21:40721253-40722006	GM12878	blood:	n/a	n/a
50	POLR2A	chr21:40720248-40721962	HUVEC	blood vessel:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40635630..40638349-chr21:40720638..40723544,2	MCF-7	breast:
2	chr11:14541657..14542383-chr21:40721262..40722122,2	NB4	blood:
3	chr21:40681596..40696529-chr21:40715399..40724266,46	K562	blood:
4	chr21:40720623..40723017-chr21:40815562..40818761,4	K562	blood:
5	chr21:40717517..40723762-chr21:40756232..40761980,18	MCF-7	breast:
6	chr21:40716662..40723444-chr21:40748337..40754328,16	MCF-7	breast:
7	chr21:40719359..40724848-chr21:40748806..40754741,7	MCF-7	breast:
8	chr21:40720444..40722867-chr21:40823306..40826080,2	MCF-7	breast:
9	chr21:40716442..40724032-chr21:40756185..40762223,18	K562	blood:
10	chr21:40721779..40723568-chr21:40810701..40813342,2	MCF-7	breast:
11	chr21:40719979..40722729-chr21:40816056..40819504,5	MCF-7	breast:
12	chr21:40719750..40724652-chr21:40748317..40754270,9	K562	blood:
13	chr21:40651445..40653004-chr21:40721446..40723113,2	MCF-7	breast:
14	chr21:40721702..40724513-chr21:40734759..40737368,2	K562	blood:
15	chr21:40717665..40724454-chr21:40756191..40763334,22	MCF-7	breast:
16	chr21:40553821..40557385-chr21:40719764..40724370,6	K562	blood:
17	chr21:40719238..40723494-chr21:40813785..40819496,7	MCF-7	breast:
18	chr21:40716961..40722807-chr21:40750720..40754894,10	K562	blood:
19	chr21:40719170..40722188-chr21:40780437..40783108,3	MCF-7	breast:
20	chr21:40719410..40723060-chr21:40814028..40819084,9	K562	blood:
21	chr21:40554663..40558370-chr21:40719503..40722190,4	MCF-7	breast:
22	chr16:85043892..85046309-chr21:40720857..40722668,2	MCF-7	breast:
23	chr21:40716079..40725440-chr21:40756737..40764615,26	K562	blood:

No data

Variant related genes	Relation type
ENSG00000238556	TF binding region
HMGN1	TF binding region
ENSG00000238141	Chromatin interaction
ENSG00000183527	Chromatin interaction
ENSG00000256206	Chromatin interaction
ENSG00000153786	Chromatin interaction
ENSG00000272991	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000185437	Chromatin interaction
ENSG00000157578	Chromatin interaction
ENSG00000129084	Chromatin interaction
ENSG00000227406	Chromatin interaction
ENSG00000255568	Chromatin interaction
ENSG00000185658	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs56666138	1.00[AMR][1000 genomes]
rs59618845	1.00[AMR][1000 genomes]
rs60835204	1.00[AMR][1000 genomes]
rs61056640	1.00[AMR][1000 genomes]
rs73355877	1.00[AMR][1000 genomes]
rs73355886	1.00[AMR][1000 genomes]
rs73355898	1.00[AMR][1000 genomes]
rs73357810	1.00[AMR][1000 genomes]
rs73357816	1.00[AMR][1000 genomes]
rs73357862	1.00[AMR][1000 genomes]
rs73357865	1.00[AMR][1000 genomes]
rs73357877	1.00[AMR][1000 genomes]
rs73357888	1.00[AMR][1000 genomes]
rs73357891	1.00[AMR][1000 genomes]
rs73357900	1.00[AMR][1000 genomes]
rs73359508	1.00[AMR][1000 genomes]
rs73359510	1.00[AMR][1000 genomes]
rs73361792	1.00[AMR][1000 genomes]
rs73361795	1.00[AMR][1000 genomes]
rs73361797	1.00[AMR][1000 genomes]
rs73364006	1.00[AMR][1000 genomes]
rs73364007	1.00[AMR][1000 genomes]
rs73364011	1.00[AMR][1000 genomes]
rs73364012	1.00[AMR][1000 genomes]
rs73364016	1.00[AMR][1000 genomes]
rs73364018	1.00[AMR][1000 genomes]
rs73364021	1.00[AMR][1000 genomes]
rs73364023	1.00[AMR][1000 genomes]
rs73364027	1.00[AMR][1000 genomes]
rs73364030	1.00[AMR][1000 genomes]
rs73364031	1.00[AMR][1000 genomes]
rs73367966	1.00[AMR][1000 genomes]
rs73367969	1.00[AMR][1000 genomes]
rs73367979	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913744	chr21:40670167-40757973	Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription 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	53 gene(s)	inside rSNPs	diseases
2	nsv1059420	chr21:40684295-40745952	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv3439352	chr21:40719607-40722455	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	25 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	chr21:40718800-40722000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:40718800-40722200	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr21:40718800-40722200	Active TSS	GM12878-XiMat	blood
4	chr21:40719000-40722200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr21:40719000-40722400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:40719200-40722000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr21:40719200-40722000	Active TSS	Fetal Brain Female	brain
8	chr21:40719200-40722000	Active TSS	HSMM	muscle
9	chr21:40719200-40722000	Active TSS	HSMMtube	muscle
10	chr21:40719200-40722200	Active TSS	Fetal Kidney	kidney
11	chr21:40719200-40722400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr21:40719200-40722800	Active TSS	Hela-S3	cervix
13	chr21:40719400-40722000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:40719400-40722200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr21:40719400-40722200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr21:40719400-40722400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr21:40719400-40722600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr21:40719600-40722000	Active TSS	Esophagus	oesophagus
19	chr21:40719600-40722000	Active TSS	Gastric	stomach
20	chr21:40719600-40722000	Active TSS	Left Ventricle	heart
21	chr21:40719600-40722000	Active TSS	Lung	lung
22	chr21:40719600-40722000	Active TSS	Placenta Amnion	Placenta Amnion
23	chr21:40719600-40722200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:40719600-40722200	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr21:40719600-40722200	Bivalent/Poised TSS	HepG2	liver
26	chr21:40719600-40722400	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr21:40719800-40722000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr21:40719800-40722000	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr21:40719800-40722000	Active TSS	Brain Angular Gyrus	brain
30	chr21:40719800-40722000	Active TSS	Duodenum Mucosa	Duodenum
31	chr21:40719800-40722000	Active TSS	Psoas Muscle	Psoas
32	chr21:40719800-40722000	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr21:40719800-40722000	Active TSS	Small Intestine	intestine
34	chr21:40719800-40722000	Active TSS	NHDF-Ad	bronchial
35	chr21:40719800-40722000	Active TSS	NHEK	skin
36	chr21:40719800-40722200	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr21:40719800-40722200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr21:40719800-40722200	Active TSS	Brain Hippocampus Middle	brain
39	chr21:40719800-40722200	Active TSS	Osteobl	bone
40	chr21:40719800-40722400	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr21:40720000-40722000	Active TSS	Brain Anterior Caudate	brain
42	chr21:40720000-40722200	Active TSS	Brain Cingulate Gyrus	brain
43	chr21:40720000-40722400	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr21:40720000-40722400	Active TSS	H1 Cell Line	embryonic stem cell
45	chr21:40720000-40722400	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr21:40720000-40722400	Active TSS	Brain Substantia Nigra	brain
47	chr21:40720000-40722600	Active TSS	Rectal Smooth Muscle	rectum
48	chr21:40720200-40722200	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr21:40720200-40722400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr21:40720400-40722000	Transcr. at gene 5' and 3'	Right Atrium	heart

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