Variant report

Variant	rs34019536
Chromosome Location	chr21:47063121-47063122
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	MAZ	chr21:47062447-47063794	GM12878	blood:	n/a	chr21:47062467-47062477
2	SP1	chr21:47062746-47063688	HCT-116	colon:	n/a	chr21:47063476-47063497 chr21:47062973-47062984 chr21:47062900-47062909 chr21:47063444-47063465 chr21:47062953-47062964 chr21:47062898-47062909 chr21:47063475-47063486 chr21:47062898-47062910 chr21:47063403-47063414
3	CREB1	chr21:47062886-47063544	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F4	chr21:47062960-47063636	MCF10A-Er-Src	breast:	n/a	chr21:47063497-47063507
5	MXI1	chr21:47062859-47066275	SK-N-SH	brain:	n/a	n/a
6	SP1	chr21:47062880-47063640	HCT-116	colon:	n/a	chr21:47063476-47063497 chr21:47062973-47062984 chr21:47062900-47062909 chr21:47063444-47063465 chr21:47062953-47062964 chr21:47062898-47062909 chr21:47063475-47063486 chr21:47062898-47062910 chr21:47063403-47063414
7	SP1	chr21:47062855-47063227	A549	lung:	n/a	chr21:47062973-47062984 chr21:47062900-47062909 chr21:47062953-47062964 chr21:47062898-47062909 chr21:47062898-47062910
8	SP4	chr21:47062875-47063186	H1-hESC	embryonic stem cell:	n/a	chr21:47062973-47062984 chr21:47062953-47062964 chr21:47062898-47062909
9	SP4	chr21:47062869-47063593	H1-hESC	embryonic stem cell:	n/a	chr21:47062973-47062984 chr21:47062953-47062964 chr21:47062898-47062909 chr21:47063475-47063486 chr21:47063403-47063414
10	SP1	chr21:47062837-47063636	GM12878	blood:	n/a	chr21:47063476-47063497 chr21:47062973-47062984 chr21:47062900-47062909 chr21:47063444-47063465 chr21:47062953-47062964 chr21:47062898-47062909 chr21:47063475-47063486 chr21:47062898-47062910 chr21:47063403-47063414
11	THAP1	chr21:47062883-47063130	K562	blood:	n/a	n/a
12	SP1	chr21:47062766-47063655	GM12878	blood:	n/a	chr21:47063476-47063497 chr21:47062973-47062984 chr21:47062900-47062909 chr21:47063444-47063465 chr21:47062953-47062964 chr21:47062898-47062909 chr21:47063475-47063486 chr21:47062898-47062910 chr21:47063403-47063414
13	CCNT2	chr21:47062866-47063144	K562	blood:	n/a	n/a
14	STAT1	chr21:47062834-47063637	GM12878	blood:	n/a	n/a
15	SP1	chr21:47062881-47063649	K562	blood:	n/a	chr21:47063476-47063497 chr21:47062973-47062984 chr21:47062900-47062909 chr21:47063444-47063465 chr21:47062953-47062964 chr21:47062898-47062909 chr21:47063475-47063486 chr21:47062898-47062910 chr21:47063403-47063414
16	MAX	chr21:47062931-47063158	K562	blood:	n/a	n/a
17	IRF1	chr21:47062815-47063730	K562	blood:	n/a	chr21:47062896-47062910
18	ZNF143	chr21:47062803-47063674	GM12878	blood:	n/a	chr21:47063497-47063507 chr21:47062806-47062816
19	MAZ	chr21:47062897-47063783	K562	blood:	n/a	n/a
20	THAP1	chr21:47062905-47063290	K562	blood:	n/a	n/a
21	EGR1	chr21:47062866-47063136	K562	blood:	n/a	chr21:47062885-47062895 chr21:47062900-47062910
22	SP1	chr21:47062733-47063136	H1-hESC	embryonic stem cell:	n/a	chr21:47062973-47062984 chr21:47062900-47062909 chr21:47062953-47062964 chr21:47062898-47062909 chr21:47062898-47062910
23	MAZ	chr21:47062346-47064616	IMR90	lung:	n/a	chr21:47064383-47064390 chr21:47062467-47062477

No.	Distal block	Cell Line	Cell type
1	chr21:46961035..46963239-chr21:47061163..47064234,4	MCF-7	breast:
2	chr21:47035998..47037896-chr21:47060266..47063425,3	MCF-7	breast:
3	chr21:46963704..46966676-chr21:47062691..47065405,2	MCF-7	breast:
4	chr21:47060499..47063225-chr21:47086755..47088271,2	MCF-7	breast:
5	chr21:47039810..47042625-chr21:47060618..47063331,3	MCF-7	breast:
6	chr21:47061926..47064777-chr21:47168199..47170677,2	MCF-7	breast:
7	chr21:47012314..47016239-chr21:47061189..47064828,5	K562	blood:

Variant related genes	Relation type
PCBP3	TF binding region
ENSG00000233922	Chromatin interaction
ENSG00000173638	Chromatin interaction
ENSG00000183570	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11702850	0.84[ASN][1000 genomes]
rs11911839	0.84[ASN][1000 genomes]
rs12373907	0.87[ASN][1000 genomes]
rs1556335	0.86[ASN][1000 genomes]
rs2297293	0.83[ASN][1000 genomes]
rs2330245	0.84[ASN][1000 genomes]
rs2838972	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2838984	0.82[ASN][1000 genomes]
rs34582204	0.82[AMR][1000 genomes]
rs4819146	0.82[ASN][1000 genomes]
rs7278438	0.84[ASN][1000 genomes]
rs744507	0.80[ASN][1000 genomes]
rs9306138	0.85[ASN][1000 genomes]
rs9306141	0.82[ASN][1000 genomes]
rs9977795	0.82[ASN][1000 genomes]
rs9978181	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1057807	chr21:46656346-47077374	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	esv2762114	chr21:46680202-47067744	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
4	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
5	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
6	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
7	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
8	nsv914077	chr21:46998548-47091361	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
9	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
10	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
11	nsv587864	chr21:47053453-47070718	Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
12	esv3338089	chr21:47061324-47064672	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
13	esv3448839	chr21:47061324-47065322	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
14	esv3376015	chr21:47061349-47064897	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
15	esv3326927	chr21:47061524-47065022	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47056400-47063600	Weak transcription	K562	blood
2	chr21:47056600-47063600	Weak transcription	Pancreas	Pancrea
3	chr21:47060800-47063600	Weak transcription	HSMMtube	muscle
4	chr21:47060800-47064200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr21:47061200-47064200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr21:47061400-47063600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr21:47061600-47063600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr21:47061600-47064000	Weak transcription	NHDF-Ad	bronchial
9	chr21:47061600-47064200	Active TSS	Thymus	Thymus
10	chr21:47061800-47063600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr21:47061800-47063800	Weak transcription	NHEK	skin
12	chr21:47061800-47064000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr21:47062000-47064000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr21:47062000-47064200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr21:47062200-47063600	Weak transcription	Gastric	stomach
16	chr21:47062200-47064600	Active TSS	Colonic Mucosa	Colon
17	chr21:47062400-47063200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
18	chr21:47062400-47064400	Active TSS	Ovary	ovary
19	chr21:47062400-47064400	Active TSS	Right Atrium	heart
20	chr21:47062400-47064600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr21:47062600-47063600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr21:47062600-47063600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr21:47062600-47063600	Weak transcription	GM12878-XiMat	blood
24	chr21:47062600-47063800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr21:47062600-47064000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr21:47062600-47064000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr21:47062600-47064000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr21:47062600-47064000	Active TSS	Dnd41	blood
29	chr21:47062600-47064200	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr21:47062600-47064200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr21:47062600-47064200	Active TSS	Fetal Brain Female	brain
32	chr21:47062600-47064400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr21:47062600-47064400	Active TSS	Aorta	Aorta
34	chr21:47062600-47064600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr21:47062800-47063600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr21:47062800-47063600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr21:47062800-47063600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr21:47062800-47063600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr21:47062800-47063600	Weak transcription	Primary B cells from cord blood	blood
40	chr21:47062800-47063600	Weak transcription	Primary T cells from cord blood	blood
41	chr21:47062800-47063600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr21:47062800-47063600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr21:47062800-47063600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr21:47062800-47063600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr21:47062800-47063600	Weak transcription	Adipose Nuclei	Adipose
46	chr21:47062800-47063600	Weak transcription	Lung	lung
47	chr21:47062800-47063600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr21:47062800-47063600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr21:47062800-47063600	Weak transcription	Small Intestine	intestine
50	chr21:47062800-47063600	Weak transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links