Variant report

Variant	rs7277065
Chromosome Location	chr21:45145286-45145287
allele	C/T
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	MXI1	chr21:45145166-45146242	SK-N-SH	brain:	n/a	n/a
2	HCFC1	chr21:45145157-45146170	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45077564..45079335-chr21:45143457..45145855,2	K562	blood:

Variant related genes	Relation type
PDXK	TF binding region
ENSG00000160207	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11909215	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1963214	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2002482	0.91[EUR][1000 genomes]
rs2838356	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2838357	1.00[CHD][hapmap];0.93[GIH][hapmap]
rs7279400	1.00[CHD][hapmap]
rs7280268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73369494	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73373276	0.81[AMR][1000 genomes]
rs743464	0.83[EUR][1000 genomes]
rs8127229	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8128206	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9974754	1.00[CHD][hapmap]

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	chr21:45140600-45145800	Weak transcription	Aorta	Aorta
2	chr21:45140600-45147400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr21:45140600-45147800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr21:45140600-45147800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:45140800-45146600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr21:45140800-45147800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr21:45140800-45148000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr21:45141000-45145600	Weak transcription	Fetal Lung	lung
9	chr21:45141000-45145600	Weak transcription	HSMMtube	muscle
10	chr21:45141000-45146600	Weak transcription	Fetal Heart	heart
11	chr21:45141000-45146600	Weak transcription	Fetal Kidney	kidney
12	chr21:45141000-45148000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr21:45141200-45145600	Weak transcription	NH-A	brain
14	chr21:45141200-45145800	Weak transcription	Brain Germinal Matrix	brain
15	chr21:45141200-45145800	Weak transcription	Psoas Muscle	Psoas
16	chr21:45141200-45148600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr21:45141600-45145800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr21:45141600-45146600	Weak transcription	Fetal Brain Male	brain
19	chr21:45141600-45147600	Weak transcription	Fetal Brain Female	brain
20	chr21:45141800-45145600	Weak transcription	Small Intestine	intestine
21	chr21:45141800-45146800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr21:45142000-45145400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr21:45142000-45145600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr21:45142200-45145400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr21:45142200-45145600	Weak transcription	Stomach Mucosa	stomach
26	chr21:45142200-45146600	Weak transcription	Right Atrium	heart
27	chr21:45142400-45145600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr21:45142400-45145600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr21:45142400-45145800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr21:45142600-45145600	Weak transcription	Fetal Thymus	thymus
31	chr21:45142600-45145600	Weak transcription	Left Ventricle	heart
32	chr21:45143600-45147600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr21:45143600-45148000	Enhancers	Primary B cells from cord blood	blood
34	chr21:45143800-45146600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr21:45143800-45146800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr21:45144000-45145400	Genic enhancers	A549	lung
37	chr21:45144000-45145600	Weak transcription	Thymus	Thymus
38	chr21:45144000-45145600	Weak transcription	Dnd41	blood
39	chr21:45144000-45145600	Weak transcription	HepG2	liver
40	chr21:45144000-45147800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr21:45144000-45148800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr21:45144200-45145600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr21:45144200-45145600	Weak transcription	Brain Angular Gyrus	brain
44	chr21:45144200-45145600	Weak transcription	Ovary	ovary
45	chr21:45144200-45145800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr21:45144200-45146600	Weak transcription	Gastric	stomach
47	chr21:45144200-45146800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr21:45144200-45147400	Genic enhancers	NHEK	skin
49	chr21:45144200-45147800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr21:45144200-45148000	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links