Variant report

Variant	rs34613278
Chromosome Location	chr21:40720494-40720495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:244)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:244 , 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	ELF1	chr21:40720432-40721159	K562	blood:	n/a	n/a
2	YY1	chr21:40720273-40720645	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr21:40720348-40721072	K562	blood:	n/a	n/a
4	MXI1	chr21:40716967-40721099	SK-N-SH	brain:	n/a	n/a
5	YY1	chr21:40719940-40721055	GM12878	blood:	n/a	n/a
6	POLR2A	chr21:40720321-40722997	K562	blood:	n/a	n/a
7	HEY1	chr21:40720124-40721066	K562	blood:	n/a	n/a
8	POLR2A	chr21:40720133-40720548	GM12891	blood:	n/a	n/a
9	E2F1	chr21:40720353-40721561	Hela-S3	cervix:	n/a	chr21:40721328-40721337 chr21:40721170-40721179
10	CTCF	chr21:40720455-40720889	GM12878	blood:	n/a	n/a
11	MAZ	chr21:40720171-40722416	GM12878	blood:	n/a	n/a
12	POLR2A	chr21:40720101-40721055	Hela-S3	cervix:	n/a	n/a
13	YY1	chr21:40720099-40720741	HepG2	liver:	n/a	n/a
14	ZMIZ1	chr21:40720439-40721038	K562	blood:	n/a	n/a
15	POLR2A	chr21:40720026-40721115	GM12892	blood:	n/a	n/a
16	POLR2A	chr21:40720101-40723328	K562	blood:	n/a	n/a
17	MXI1	chr21:40720324-40721953	HepG2	liver:	n/a	n/a
18	CCNT2	chr21:40720311-40721747	K562	blood:	n/a	chr21:40721170-40721179
19	RCOR1	chr21:40720153-40720655	K562	blood:	n/a	n/a
20	POLR2A	chr21:40719451-40723014	GM12878	blood:	n/a	n/a
21	MTA3	chr21:40720046-40720607	GM12878	blood:	n/a	n/a
22	POLR2A	chr21:40720391-40721073	A549	lung:	n/a	n/a
23	REST	chr21:40719476-40722011	H1-neurons	neurons:	n/a	chr21:40721572-40721585 chr21:40721572-40721585
24	POLR2A	chr21:40716164-40723345	K562	blood:	n/a	n/a
25	POLR2A	chr21:40720396-40720763	A549	lung:	n/a	n/a
26	TAF1	chr21:40720100-40721872	ECC-1	luminal epithelium:	n/a	n/a
27	ZNF143	chr21:40720426-40721786	GM12878	blood:	n/a	chr21:40721126-40721136 chr21:40721364-40721379
28	BRCA1	chr21:40720409-40720764	Hela-S3	cervix:	n/a	n/a
29	E2F4	chr21:40719770-40721703	MCF10A-Er-Src	breast:	n/a	chr21:40720601-40720612 chr21:40721328-40721337 chr21:40721584-40721593 chr21:40721170-40721179
30	CREB1	chr21:40720272-40720860	H1-hESC	embryonic stem cell:	n/a	n/a
31	SIN3AK20	chr21:40719291-40722472	MCF-7	breast:	n/a	n/a
32	JUND	chr21:40720465-40721034	H1-hESC	embryonic stem cell:	n/a	n/a
33	TAF1	chr21:40720414-40721096	GM12878	blood:	n/a	n/a
34	FOXP2	chr21:40720414-40720741	PFSK-1	brain:	n/a	n/a
35	MXI1	chr21:40719317-40721951	IMR90	lung:	n/a	n/a
36	POLR2A	chr21:40719983-40722069	GM12878	blood:	n/a	n/a
37	POLR2A	chr21:40720356-40721044	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr21:40720245-40721551	IMR90	lung:	n/a	n/a
39	POLR2A	chr21:40720147-40721849	Hela-S3	cervix:	n/a	n/a
40	BHLHE40	chr21:40720268-40722040	K562	blood:	n/a	n/a
41	HEY1	chr21:40720300-40721056	HepG2	liver:	n/a	n/a
42	POLR2A	chr21:40720303-40721106	A549	lung:	n/a	n/a
43	SIN3AK20	chr21:40720092-40721055	PANC-1	pancreas:	n/a	n/a
44	YY1	chr21:40720035-40721147	GM12878	blood:	n/a	n/a
45	ETS1	chr21:40720192-40721055	K562	blood:	n/a	n/a
46	POLR2A	chr21:40720076-40721155	HL-60	blood:	n/a	n/a
47	YY1	chr21:40720411-40721015	GM12891	blood:	n/a	n/a
48	POLR2A	chr21:40720190-40721112	K562	blood:	n/a	n/a
49	YY1	chr21:40720058-40721093	GM12892	blood:	n/a	n/a
50	TAF1	chr21:40720098-40721068	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:24607940..24610732-chr21:40718347..40720759,2	MCF-7	breast:
2	chr21:40681596..40696529-chr21:40715399..40724266,46	K562	blood:
3	chr20:49347681..49350459-chr21:40719549..40721947,2	MCF-7	breast:
4	chr21:40685861..40686376-chr21:40719745..40720551,2	MCF-7	breast:
5	chr21:40718950..40720909-chr8:144820152..144822605,2	MCF-7	breast:
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	chr21:40650313..40652723-chr21:40719146..40721312,2	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	chr21:40717665..40724454-chr21:40756191..40763334,22	MCF-7	breast:
15	chr21:40553821..40557385-chr21:40719764..40724370,6	K562	blood:
16	chr21:40719238..40723494-chr21:40813785..40819496,7	MCF-7	breast:
17	chr21:40716961..40722807-chr21:40750720..40754894,10	K562	blood:
18	chr12:57893868..57894739-chr21:40720155..40721007,2	MCF-7	breast:
19	chr21:40719170..40722188-chr21:40780437..40783108,3	MCF-7	breast:
20	chr21:40719410..40723060-chr21:40814028..40819084,9	K562	blood:
21	chr21:40719273..40720815-chr21:40782667..40784260,2	K562	blood:
22	chr21:40554663..40558370-chr21:40719503..40722190,4	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
ENSG00000203499	Chromatin interaction
ENSG00000124171	Chromatin interaction
ENSG00000157578	Chromatin interaction
ENSG00000185658	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000255568	Chromatin interaction
ENSG00000183527	Chromatin interaction
ENSG00000227406	Chromatin interaction
ENSG00000259321	Chromatin interaction
ENSG00000185437	Chromatin interaction
ENSG00000100908	Chromatin interaction
ENSG00000272991	Chromatin interaction
ENSG00000166986	Chromatin interaction
ENSG00000238141	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11910437	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11910622	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11910752	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs13045993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13050927	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13051158	1.00[ASN][1000 genomes]
rs35785797	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4295088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40718000-40721400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr21:40718800-40721400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr21:40718800-40721600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr21:40718800-40721600	Active TSS	Brain Germinal Matrix	brain
5	chr21:40718800-40721600	Active TSS	Fetal Stomach	stomach
6	chr21:40718800-40721800	Active TSS	Fetal Intestine Large	intestine
7	chr21:40718800-40721800	Active TSS	Fetal Intestine Small	intestine
8	chr21:40718800-40722000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr21:40718800-40722200	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr21:40718800-40722200	Active TSS	GM12878-XiMat	blood
11	chr21:40719000-40721600	Active TSS	HMEC	breast
12	chr21:40719000-40722200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr21:40719000-40722400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr21:40719200-40722000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr21:40719200-40722000	Active TSS	Fetal Brain Female	brain
16	chr21:40719200-40722000	Active TSS	HSMM	muscle
17	chr21:40719200-40722000	Active TSS	HSMMtube	muscle
18	chr21:40719200-40722200	Active TSS	Fetal Kidney	kidney
19	chr21:40719200-40722400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr21:40719200-40722800	Active TSS	Hela-S3	cervix
21	chr21:40719400-40721400	Active TSS	Primary T cells fromperipheralblood	blood
22	chr21:40719400-40721600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr21:40719400-40721600	Active TSS	Fetal Muscle Trunk	muscle
24	chr21:40719400-40721800	Active TSS	Ovary	ovary
25	chr21:40719400-40721800	Active TSS	Right Ventricle	heart
26	chr21:40719400-40722000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr21:40719400-40722200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr21:40719400-40722200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr21:40719400-40722400	Active TSS	H9 Cell Line	embryonic stem cell
30	chr21:40719400-40722600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr21:40719600-40720600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr21:40719600-40720600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr21:40719600-40720600	Active TSS	Fetal Heart	heart
34	chr21:40719600-40720600	Active TSS	Stomach Mucosa	stomach
35	chr21:40719600-40721600	Active TSS	Colonic Mucosa	Colon
36	chr21:40719600-40721600	Active TSS	Placenta	Placenta
37	chr21:40719600-40721600	Active TSS	Thymus	Thymus
38	chr21:40719600-40721800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr21:40719600-40721800	Active TSS	Pancreas	Pancrea
40	chr21:40719600-40721800	Active TSS	NH-A	brain
41	chr21:40719600-40721800	Active TSS	NHLF	lung
42	chr21:40719600-40722000	Active TSS	Esophagus	oesophagus
43	chr21:40719600-40722000	Active TSS	Gastric	stomach
44	chr21:40719600-40722000	Active TSS	Left Ventricle	heart
45	chr21:40719600-40722000	Active TSS	Lung	lung
46	chr21:40719600-40722000	Active TSS	Placenta Amnion	Placenta Amnion
47	chr21:40719600-40722200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr21:40719600-40722200	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr21:40719600-40722200	Bivalent/Poised TSS	HepG2	liver
50	chr21:40719600-40722400	Active TSS	Sigmoid Colon	Sigmoid Colon

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