Variant report

Variant	rs73369494
Chromosome Location	chr21:45147107-45147108
allele	A/C
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	MAX	chr21:45146633-45148919	NB4	blood:	n/a	chr21:45148531-45148540 chr21:45148566-45148581 chr21:45148190-45148199 chr21:45148571-45148578 chr21:45148568-45148583 chr21:45148570-45148579 chr21:45148570-45148580 chr21:45148533-45148542 chr21:45148532-45148539 chr21:45148531-45148541
2	POLR2A	chr21:45146544-45147128	K562	blood:	n/a	n/a
3	POLR2A	chr21:45146501-45147185	Hela-S3	cervix:	n/a	n/a
4	MAX	chr21:45146914-45148973	HCT-116	colon:	n/a	chr21:45148531-45148540 chr21:45148566-45148581 chr21:45148190-45148199 chr21:45148571-45148578 chr21:45148568-45148583 chr21:45148570-45148579 chr21:45148570-45148580 chr21:45148533-45148542 chr21:45148532-45148539 chr21:45148531-45148541
5	POLR2A	chr21:45146565-45147117	A549	lung:	n/a	n/a
6	MYC	chr21:45146778-45148912	NB4	blood:	n/a	chr21:45148531-45148540 chr21:45148566-45148581 chr21:45148190-45148199 chr21:45148571-45148578 chr21:45148568-45148583 chr21:45148570-45148579 chr21:45148570-45148580 chr21:45148533-45148542 chr21:45148532-45148539 chr21:45148531-45148541
7	POLR2A	chr21:45146491-45147185	K562	blood:	n/a	n/a
8	POLR2A	chr21:45146552-45147217	ECC-1	luminal epithelium:	n/a	n/a
9	TEAD4	chr21:45146522-45148081	ECC-1	luminal epithelium:	n/a	n/a
10	CTCF	chr21:45147060-45147210	GM12871	blood:	n/a	n/a
11	POLR2A	chr21:45146597-45149266	A549	lung:	n/a	n/a
12	POLR2A	chr21:45146212-45150537	HepG2	liver:	n/a	n/a
13	NFIC	chr21:45146967-45147998	ECC-1	luminal epithelium:	n/a	n/a
14	STAT5A	chr21:45146561-45147182	K562	blood:	n/a	chr21:45146941-45146948
15	EP300	chr21:45146742-45148076	ECC-1	luminal epithelium:	n/a	n/a
16	TCF12	chr21:45146750-45148962	A549	lung:	n/a	chr21:45148372-45148380
17	POLR2A	chr21:45146893-45147165	K562	blood:	n/a	n/a
18	POLR2A	chr21:45146387-45149715	GM12878	blood:	n/a	n/a
19	POLR2A	chr21:45146564-45147210	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr21:45146519-45149833	K562	blood:	n/a	n/a
21	SP1	chr21:45146679-45147233	A549	lung:	n/a	chr21:45146983-45146995
22	MAX	chr21:45146487-45149044	A549	lung:	n/a	chr21:45148531-45148540 chr21:45148566-45148581 chr21:45148190-45148199 chr21:45148571-45148578 chr21:45148568-45148583 chr21:45148570-45148579 chr21:45148570-45148580 chr21:45148533-45148542 chr21:45148532-45148539 chr21:45148531-45148541
23	POLR2A	chr21:45146517-45147255	A549	lung:	n/a	n/a
24	POLR2A	chr21:45146516-45149611	HL-60	blood:	n/a	n/a
25	MAX	chr21:45146623-45148957	A549	lung:	n/a	chr21:45148531-45148540 chr21:45148566-45148581 chr21:45148190-45148199 chr21:45148571-45148578 chr21:45148568-45148583 chr21:45148570-45148579 chr21:45148570-45148580 chr21:45148533-45148542 chr21:45148532-45148539 chr21:45148531-45148541
26	STAT5A	chr21:45146659-45147243	GM12878	blood:	n/a	chr21:45146941-45146948

No.	Distal block	Cell Line	Cell type
1	chr21:45145345..45148604-chr21:45164623..45167520,3	MCF-7	breast:
2	chr21:45146427..45148749-chr21:45209148..45210811,2	K562	blood:
3	chr21:45104884..45107292-chr21:45145308..45147186,2	K562	blood:
4	chr21:45146930..45150669-chr21:45163613..45169103,5	K562	blood:

Variant related genes	Relation type
PDXK	TF binding region
ENSG00000160208	Chromatin interaction
ENSG00000160214	Chromatin interaction
ENSG00000160209	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11909215	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1963214	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2002482	0.91[EUR][1000 genomes]
rs2838356	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7277065	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7280268	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs743464	0.83[EUR][1000 genomes]
rs8127229	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8128206	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1066613	chr21:45108233-45148136	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv3424986	chr21:45118675-45158421	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	esv3329872	chr21:45118725-45158757	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv913875	chr21:45119629-45191005	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv913876	chr21:45119629-45267193	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv587701	chr21:45128190-45181446	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv459290	chr21:45128454-45191139	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv587702	chr21:45128454-45191139	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv913877	chr21:45133868-45163689	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
13	nsv913878	chr21:45133868-45170285	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
14	esv2830066	chr21:45133868-45258047	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
15	esv1828675	chr21:45142427-45191139	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
16	esv3355588	chr21:45144624-45148822	Weak transcription Flanking Active TSS Enhancers Genic enhancers 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	7 gene(s)	inside rSNPs	diseases
17	nsv913879	chr21:45145286-45237039	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
18	nsv913880	chr21:45145286-45263920	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
19	nsv913881	chr21:45145286-45267193	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45140600-45147400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr21:45140600-45147800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr21:45140600-45147800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:45140800-45147800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr21:45140800-45148000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr21:45141000-45148000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr21:45141200-45148600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr21:45141600-45147600	Weak transcription	Fetal Brain Female	brain
9	chr21:45143600-45147600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr21:45143600-45148000	Enhancers	Primary B cells from cord blood	blood
11	chr21:45144000-45147800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr21:45144000-45148800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr21:45144200-45147400	Genic enhancers	NHEK	skin
14	chr21:45144200-45147800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:45144200-45148000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr21:45144200-45148000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr21:45144200-45148400	Enhancers	Pancreas	Pancrea
18	chr21:45144400-45148000	Enhancers	Placenta	Placenta
19	chr21:45144400-45148200	Enhancers	Primary B cells from peripheral blood	blood
20	chr21:45144600-45147400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:45144600-45147400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr21:45144800-45147400	Enhancers	HMEC	breast
23	chr21:45144800-45147800	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr21:45144800-45148000	Enhancers	Fetal Muscle Trunk	muscle
25	chr21:45144800-45148200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr21:45145000-45147800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr21:45145000-45148000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr21:45145200-45147800	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr21:45145200-45148000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr21:45145200-45148200	Enhancers	NHDF-Ad	bronchial
31	chr21:45145200-45148400	Enhancers	HUVEC	blood vessel
32	chr21:45145200-45149400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr21:45145200-45149600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr21:45145400-45147200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr21:45145400-45147400	Enhancers	Colon Smooth Muscle	Colon
36	chr21:45145400-45147800	Enhancers	Primary T cells fromperipheralblood	blood
37	chr21:45145400-45147800	Enhancers	Spleen	Spleen
38	chr21:45145400-45148000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr21:45145400-45148000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr21:45145400-45148000	Enhancers	Fetal Muscle Leg	muscle
41	chr21:45145400-45148400	Enhancers	Esophagus	oesophagus
42	chr21:45145400-45148400	Enhancers	Lung	lung
43	chr21:45145600-45147200	Enhancers	Primary hematopoietic stem cells	blood
44	chr21:45145600-45147400	Enhancers	HSMMtube	muscle
45	chr21:45145600-45147800	Enhancers	Brain Angular Gyrus	brain
46	chr21:45145600-45147800	Enhancers	NH-A	brain
47	chr21:45145600-45148000	Enhancers	Primary T cells from cord blood	blood
48	chr21:45145600-45148000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr21:45145600-45148000	Enhancers	Brain Substantia Nigra	brain
50	chr21:45145600-45148200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links