Variant report

Variant	rs4683661
Chromosome Location	chr3:141752480-141752481
allele	C/G
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	GATA1	chr3:141752124-141752503	PBDE	blood:	n/a	chr3:141752365-141752375 chr3:141752365-141752374 chr3:141752367-141752374 chr3:141752363-141752376 chr3:141752266-141752279
2	MAX	chr3:141752241-141752499	K562	blood:	n/a	n/a
3	RCOR1	chr3:141752204-141752480	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141750870..141754798-chr3:141761535..141764566,4	K562	blood:
2	chr3:141751486..141755736-chr3:141759507..141766558,8	K562	blood:

Variant related genes	Relation type
TFDP2	TF binding region
ENSG00000233597	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10935454	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11569177	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11569186	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11569190	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11569193	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11569195	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11569201	0.87[ASN][1000 genomes]
rs11569202	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11569205	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11569206	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11569209	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11569214	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11706402	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11706728	0.87[ASN][1000 genomes]
rs11708301	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11711960	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11712803	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11713062	0.87[ASN][1000 genomes]
rs11713690	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11716148	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11717306	0.87[ASN][1000 genomes]
rs11717517	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11719793	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11719806	0.87[ASN][1000 genomes]
rs11720300	0.91[ASN][1000 genomes]
rs34262349	0.87[ASN][1000 genomes]
rs4683418	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4683419	0.87[ASN][1000 genomes]
rs4683659	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4683660	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4683665	0.87[ASN][1000 genomes]
rs55644127	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs55680729	0.87[ASN][1000 genomes]
rs55778028	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs55787733	0.87[ASN][1000 genomes]
rs55871523	0.87[ASN][1000 genomes]
rs55959014	0.87[ASN][1000 genomes]
rs56104495	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56116145	0.87[ASN][1000 genomes]
rs56128490	0.87[ASN][1000 genomes]
rs56200713	0.87[ASN][1000 genomes]
rs56300836	0.87[ASN][1000 genomes]
rs56324837	0.87[ASN][1000 genomes]
rs61729566	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61737218	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73232653	0.87[ASN][1000 genomes]
rs73232654	0.87[ASN][1000 genomes]
rs73232657	0.87[ASN][1000 genomes]
rs73232659	0.87[ASN][1000 genomes]
rs73232663	0.87[ASN][1000 genomes]
rs73232664	0.87[ASN][1000 genomes]
rs73232666	0.87[ASN][1000 genomes]
rs73232667	0.87[ASN][1000 genomes]
rs73232670	0.87[ASN][1000 genomes]
rs73232672	0.87[ASN][1000 genomes]
rs73232673	0.87[ASN][1000 genomes]
rs73232675	0.87[ASN][1000 genomes]
rs73232677	0.87[ASN][1000 genomes]
rs73232678	0.87[ASN][1000 genomes]
rs73232684	0.87[ASN][1000 genomes]
rs73232685	0.87[ASN][1000 genomes]
rs73232688	0.83[ASN][1000 genomes]
rs73232693	0.87[ASN][1000 genomes]
rs73232695	0.87[ASN][1000 genomes]
rs73233851	0.87[ASN][1000 genomes]
rs73233852	0.87[ASN][1000 genomes]
rs73233853	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS 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	27 gene(s)	inside rSNPs	diseases
3	nsv1002446	chr3:141719169-142070290	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv2757892	chr3:141728870-142129836	Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	esv2759182	chr3:141728870-142129836	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv877553	chr3:141732321-141786073	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv877554	chr3:141735532-141781890	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv877555	chr3:141740076-141791408	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4683661	TFDP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141747600-141762600	Weak transcription	Fetal Muscle Leg	muscle
2	chr3:141747600-141762800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr3:141747600-141773000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr3:141747600-141780400	Weak transcription	Left Ventricle	heart
5	chr3:141748200-141753800	Weak transcription	Fetal Thymus	thymus
6	chr3:141748200-141754000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:141748200-141755200	Weak transcription	Aorta	Aorta
8	chr3:141748800-141758400	Weak transcription	Thymus	Thymus
9	chr3:141751200-141752600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr3:141751200-141756200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:141751200-141765000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr3:141751400-141756200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:141751400-141759600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr3:141751400-141764400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr3:141752200-141752800	Enhancers	Fetal Intestine Large	intestine
16	chr3:141752200-141752800	Enhancers	K562	blood
17	chr3:141752400-141752800	Enhancers	Fetal Intestine Small	intestine
18	chr3:141752400-141759800	Weak transcription	Dnd41	blood

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