Variant report

Variant	rs13050927
Chromosome Location	chr21:40722324-40722325
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:40722155-40722470	GM12891	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	POLR2A	chr21:40722301-40722538	MCF10A-Er-Src	breast:	n/a	n/a
5	TBL1XR1	chr21:40721287-40722811	K562	blood:	n/a	n/a
6	MAZ	chr21:40720171-40722416	GM12878	blood:	n/a	n/a
7	POLR2A	chr21:40722290-40722904	HepG2	liver:	n/a	n/a
8	POLR2A	chr21:40720101-40723328	K562	blood:	n/a	n/a
9	POLR2A	chr21:40719451-40723014	GM12878	blood:	n/a	n/a
10	ZBTB7A	chr21:40722274-40722569	K562	blood:	n/a	n/a
11	POLR2A	chr21:40716164-40723345	K562	blood:	n/a	n/a
12	TEAD4	chr21:40721177-40722666	K562	blood:	n/a	chr21:40722106-40722115
13	POLR2A	chr21:40722232-40722387	GM12878	blood:	n/a	n/a
14	ELF1	chr21:40721132-40722351	MCF-7	breast:	n/a	chr21:40721489-40721502
15	SIN3AK20	chr21:40719291-40722472	MCF-7	breast:	n/a	n/a
16	EBF1	chr21:40722033-40722340	GM12878	blood:	n/a	n/a
17	YY1	chr21:40722298-40722531	K562	blood:	n/a	n/a
18	MAX	chr21:40721154-40722801	MCF-7	breast:	n/a	n/a
19	POLR2A	chr21:40720291-40722386	NB4	blood:	n/a	n/a
20	SPI1	chr21:40722297-40722550	K562	blood:	n/a	chr21:40722421-40722434
21	ZNF384	chr21:40721364-40722387	K562	blood:	n/a	n/a
22	POLR2A	chr21:40722071-40722818	GM12878	blood:	n/a	n/a
23	MYC	chr21:40719529-40722622	K562	blood:	n/a	n/a
24	MAFK	chr21:40722284-40722702	K562	blood:	n/a	chr21:40722446-40722460 chr21:40722448-40722459 chr21:40722447-40722458 chr21:40722448-40722459
25	HEY1	chr21:40722117-40722791	K562	blood:	n/a	n/a
26	POLR2A	chr21:40720187-40723493	K562	blood:	n/a	n/a
27	SPI1	chr21:40722295-40722577	K562	blood:	n/a	chr21:40722421-40722434
28	POLR2A	chr21:40719412-40723072	GM12891	blood:	n/a	n/a
29	JUND	chr21:40720384-40722664	K562	blood:	n/a	chr21:40721637-40721646 chr21:40721326-40721335
30	POLR2A	chr21:40720270-40723072	Raji	blood:	n/a	n/a
31	POLR2A	chr21:40720182-40722538	GM12892	blood:	n/a	n/a
32	POLR2A	chr21:40720143-40722611	GM19193	blood:	n/a	n/a
33	POLR2A	chr21:40719490-40723323	GM12878	blood:	n/a	n/a
34	POLR2A	chr21:40722272-40722350	HUVEC	blood vessel:	n/a	n/a
35	MAZ	chr21:40722300-40722749	K562	blood:	n/a	n/a
36	RCOR1	chr21:40721351-40722488	K562	blood:	n/a	n/a
37	MXI1	chr21:40721205-40722958	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr21:40720192-40723374	K562	blood:	n/a	n/a
39	POLR2A	chr21:40721179-40723096	K562	blood:	n/a	n/a
40	POLR2A	chr21:40721160-40722612	K562	blood:	n/a	n/a
41	POLR2A	chr21:40721209-40722749	HL-60	blood:	n/a	n/a
42	POLR2A	chr21:40719461-40723355	K562	blood:	n/a	n/a
43	CHD1	chr21:40722315-40722581	GM12878	blood:	n/a	n/a
44	POLR2A	chr21:40720079-40723072	MCF-7	breast:	n/a	n/a
45	RCOR1	chr21:40722237-40722648	K562	blood:	n/a	n/a
46	HEY1	chr21:40721204-40722743	K562	blood:	n/a	n/a
47	SPI1	chr21:40722173-40722677	HL-60	blood:	n/a	chr21:40722421-40722434
48	TBP	chr21:40719557-40722613	K562	blood:	n/a	n/a
49	POLR2A	chr21:40722134-40722748	SK-N-MC	brain:	n/a	n/a
50	MYC	chr21:40720316-40722683	K562	blood:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40635630..40638349-chr21:40720638..40723544,2	MCF-7	breast:
2	chr21:40681596..40696529-chr21:40715399..40724266,46	K562	blood:
3	chr21:40550592..40552295-chr21:40721972..40724130,2	K562	blood:
4	chr21:40650772..40652472-chr21:40721952..40724679,2	K562	blood:
5	chr21:40720623..40723017-chr21:40815562..40818761,4	K562	blood:
6	chr21:40717517..40723762-chr21:40756232..40761980,18	MCF-7	breast:
7	chr21:40716662..40723444-chr21:40748337..40754328,16	MCF-7	breast:
8	chr21:40719359..40724848-chr21:40748806..40754741,7	MCF-7	breast:
9	chr21:40720444..40722867-chr21:40823306..40826080,2	MCF-7	breast:
10	chr21:40716442..40724032-chr21:40756185..40762223,18	K562	blood:
11	chr21:40721779..40723568-chr21:40810701..40813342,2	MCF-7	breast:
12	chr21:40719979..40722729-chr21:40816056..40819504,5	MCF-7	breast:
13	chr21:40719750..40724652-chr21:40748317..40754270,9	K562	blood:
14	chr21:40651445..40653004-chr21:40721446..40723113,2	MCF-7	breast:
15	chr21:40721702..40724513-chr21:40734759..40737368,2	K562	blood:
16	chr21:40717665..40724454-chr21:40756191..40763334,22	MCF-7	breast:
17	chr21:40553821..40557385-chr21:40719764..40724370,6	K562	blood:
18	chr21:40719238..40723494-chr21:40813785..40819496,7	MCF-7	breast:
19	chr21:40716961..40722807-chr21:40750720..40754894,10	K562	blood:
20	chr21:40719410..40723060-chr21:40814028..40819084,9	K562	blood:
21	chr16:85043892..85046309-chr21:40720857..40722668,2	MCF-7	breast:
22	chr21:40716079..40725440-chr21:40756737..40764615,26	K562	blood:

No data

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

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11910437	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11910622	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11910752	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs13045993	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13051158	1.00[ASN][1000 genomes]
rs2735306	0.83[CHD][hapmap]
rs2776307	0.83[CHD][hapmap]
rs2776309	0.83[CHD][hapmap]
rs34613278	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35785797	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4295088	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40719000-40722400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:40719200-40722400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr21:40719200-40722800	Active TSS	Hela-S3	cervix
4	chr21:40719400-40722400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr21:40719400-40722600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr21:40719600-40722400	Active TSS	Sigmoid Colon	Sigmoid Colon
7	chr21:40719800-40722400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr21:40720000-40722400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr21:40720000-40722400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr21:40720000-40722400	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr21:40720000-40722400	Active TSS	Brain Substantia Nigra	brain
12	chr21:40720000-40722600	Active TSS	Rectal Smooth Muscle	rectum
13	chr21:40720200-40722400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr21:40720400-40722400	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr21:40720400-40722400	Active TSS	K562	blood
16	chr21:40720400-40722600	Active TSS	A549	lung
17	chr21:40721000-40722400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr21:40721400-40722400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr21:40721400-40722400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr21:40721600-40722400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr21:40721600-40722400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr21:40721600-40722400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr21:40721600-40722600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr21:40721600-40722600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr21:40721600-40722600	Flanking Active TSS	HMEC	breast
26	chr21:40721800-40722400	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr21:40721800-40722400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr21:40721800-40722400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr21:40721800-40722600	Flanking Active TSS	Fetal Intestine Small	intestine
30	chr21:40721800-40723000	Flanking Active TSS	Dnd41	blood
31	chr21:40721800-40725400	Weak transcription	NHLF	lung
32	chr21:40722000-40722400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr21:40722000-40722400	Enhancers	Colon Smooth Muscle	Colon
34	chr21:40722000-40722400	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr21:40722000-40722400	Enhancers	Fetal Heart	heart
36	chr21:40722000-40722400	Flanking Active TSS	Thymus	Thymus
37	chr21:40722000-40722400	Enhancers	Spleen	Spleen
38	chr21:40722000-40722400	Flanking Active TSS	NHEK	skin
39	chr21:40722000-40722600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr21:40722000-40722600	Enhancers	Stomach Mucosa	stomach
41	chr21:40722000-40722800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr21:40722000-40722800	Enhancers	Liver	Liver
43	chr21:40722000-40723000	Active TSS	Colonic Mucosa	Colon
44	chr21:40722000-40723000	Genic enhancers	Right Atrium	heart
45	chr21:40722200-40722400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr21:40722200-40722400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr21:40722200-40722400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr21:40722200-40722400	Enhancers	Primary B cells from peripheral blood	blood
49	chr21:40722200-40722400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr21:40722200-40722400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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