Variant report

Variant	rs73906635
Chromosome Location	chr21:45237368-45237369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:45236561-45237822	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr21:45235726-45237939	K562	blood:	n/a	n/a
3	POLR2A	chr21:45237274-45237797	GM12891	blood:	n/a	n/a
4	POLR2A	chr21:45237334-45237600	GM12878	blood:	n/a	n/a
5	NR2F2	chr21:45236486-45237412	MCF-7	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45226284..45237567-chr21:45281864..45289573,19	K562	blood:
2	chr21:45233511..45237736-chr21:45356519..45359137,5	K562	blood:
3	chr21:45236743..45238556-chr21:45284722..45286345,2	MCF-7	breast:
4	chr21:45192905..45195528-chr21:45235425..45238416,2	MCF-7	breast:
5	chr21:45230202..45231969-chr21:45236707..45239861,3	MCF-7	breast:
6	chr21:45237201..45239998-chr21:45352077..45354787,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215458	TF binding region
ENSG00000215458	Chromatin interaction
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1136075	1.00[AMR][1000 genomes]
rs55865152	1.00[AMR][1000 genomes]
rs56307626	1.00[AMR][1000 genomes]
rs57619381	1.00[AMR][1000 genomes]
rs58866868	1.00[AMR][1000 genomes]
rs59095908	1.00[AMR][1000 genomes]
rs60910278	1.00[AMR][1000 genomes]
rs73906608	1.00[AMR][1000 genomes]
rs73906612	1.00[AMR][1000 genomes]
rs73906613	1.00[AMR][1000 genomes]
rs73906617	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73906620	1.00[AMR][1000 genomes]
rs73906621	1.00[AMR][1000 genomes]
rs73906622	1.00[AMR][1000 genomes]
rs73906623	1.00[AMR][1000 genomes]
rs73906624	1.00[AMR][1000 genomes]
rs73906625	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73906626	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73906627	1.00[AMR][1000 genomes]
rs73906630	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73906633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73906636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73906638	1.00[AMR][1000 genomes]
rs73906643	1.00[AMR][1000 genomes]
rs73906650	1.00[AMR][1000 genomes]
rs73906656	1.00[AMR][1000 genomes]
rs73906660	1.00[AMR][1000 genomes]
rs73906662	1.00[AMR][1000 genomes]
rs73906663	1.00[AMR][1000 genomes]
rs73906665	1.00[AMR][1000 genomes]
rs73906666	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv470904	chr21:45151045-45258047	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
10	nsv520305	chr21:45175958-45246326	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv913883	chr21:45191139-45252838	Weak transcription Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv913884	chr21:45191139-45255836	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv544469	chr21:45194085-45257959	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv913885	chr21:45206355-45249474	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv587718	chr21:45210932-45252838	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	nsv1065007	chr21:45212880-45257959	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
18	nsv544470	chr21:45212880-45257959	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
19	nsv459292	chr21:45218440-45269841	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
20	nsv587719	chr21:45218440-45269841	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
21	nsv522204	chr21:45220483-45246326	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv913886	chr21:45220483-45267193	Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
23	esv1844567	chr21:45230974-45246326	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
24	nsv587720	chr21:45232322-45263920	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
25	esv19139	chr21:45232877-45241349	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
26	nsv516832	chr21:45237039-45240137	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	nsv519385	chr21:45237039-45263920	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45211000-45257200	Weak transcription	Right Atrium	heart
2	chr21:45224800-45238400	Weak transcription	Aorta	Aorta
3	chr21:45232800-45238400	Weak transcription	Brain Substantia Nigra	brain
4	chr21:45232800-45241400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr21:45232800-45244000	Weak transcription	Brain Angular Gyrus	brain
6	chr21:45233200-45237400	Weak transcription	Lung	lung
7	chr21:45234800-45245000	Weak transcription	Brain Anterior Caudate	brain
8	chr21:45235000-45237400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:45235000-45237400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr21:45235000-45238400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr21:45235000-45239000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr21:45235000-45244000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr21:45235400-45238600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr21:45235600-45237400	Weak transcription	Esophagus	oesophagus
15	chr21:45235600-45237800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:45235600-45238400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr21:45236000-45238200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr21:45236000-45238200	Weak transcription	K562	blood
19	chr21:45236000-45244200	Weak transcription	Right Ventricle	heart
20	chr21:45236000-45245000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr21:45236200-45238600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr21:45236600-45237800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr21:45236600-45238000	Enhancers	GM12878-XiMat	blood
24	chr21:45236600-45238200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr21:45236800-45237600	Flanking Bivalent TSS/Enh	HepG2	liver
26	chr21:45237000-45237600	Enhancers	Primary B cells from peripheral blood	blood
27	chr21:45237000-45237800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr21:45237000-45237800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr21:45237000-45237800	Enhancers	Fetal Muscle Leg	muscle
30	chr21:45237000-45238000	Enhancers	Placenta	Placenta
31	chr21:45237000-45240600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr21:45237200-45237400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr21:45237200-45237400	Enhancers	Fetal Intestine Large	intestine
34	chr21:45237200-45237800	Enhancers	Adipose Nuclei	Adipose
35	chr21:45237200-45237800	Enhancers	Spleen	Spleen
36	chr21:45237200-45238800	Enhancers	Primary neutrophils fromperipheralblood	blood

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