Variant report

Variant	rs4683418
Chromosome Location	chr3:141748653-141748654
allele	A/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	chr3:141747733-141748901	PBDE	blood:	n/a	chr3:141748424-141748431
2	TBL1XR1	chr3:141747352-141748786	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141746024..141748965-chr3:160116774..160118286,2	K562	blood:
2	chr3:141151754..141154048-chr3:141748045..141749745,2	K562	blood:

Variant related genes	Relation type
TFDP2	TF binding region
ENSG00000068885	Chromatin interaction
ENSG00000113810	Chromatin interaction

Extended variants
information (count: 198 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:190)

rs_ID	r²[population]
rs10935446	1.00[CEU][hapmap]
rs10935449	0.87[EUR][1000 genomes]
rs10935450	0.87[EUR][1000 genomes]
rs10935451	0.87[EUR][1000 genomes]
rs10935454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11569177	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11569186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11569190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11569193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11569195	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11569201	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11569202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11569205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11569206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11569208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11569209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11569214	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11569218	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11569220	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11569222	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11569223	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11569226	0.87[EUR][1000 genomes]
rs11569232	0.84[EUR][1000 genomes]
rs11569233	0.84[EUR][1000 genomes]
rs11569234	0.84[EUR][1000 genomes]
rs11569235	0.82[EUR][1000 genomes]
rs11569237	0.84[EUR][1000 genomes]
rs11569244	0.84[EUR][1000 genomes]
rs11569246	0.84[EUR][1000 genomes]
rs11569247	0.84[EUR][1000 genomes]
rs11569248	0.84[EUR][1000 genomes]
rs11569249	0.84[EUR][1000 genomes]
rs11569251	0.84[EUR][1000 genomes]
rs11569252	0.84[EUR][1000 genomes]
rs11569278	1.00[CEU][hapmap]
rs11569291	1.00[CEU][hapmap]
rs11705778	0.87[EUR][1000 genomes]
rs11706051	0.83[ASN][1000 genomes]
rs11706152	0.83[ASN][1000 genomes]
rs11706402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11706728	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11708011	0.83[ASN][1000 genomes]
rs11708301	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11709650	0.84[ASN][1000 genomes]
rs11711239	0.83[ASN][1000 genomes]
rs11711372	0.83[ASN][1000 genomes]
rs11711550	0.83[ASN][1000 genomes]
rs11711748	1.00[CEU][hapmap]
rs11711960	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11712148	0.83[ASN][1000 genomes]
rs11712803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11713023	1.00[CEU][hapmap]
rs11713062	0.91[ASN][1000 genomes]
rs11713191	0.83[ASN][1000 genomes]
rs11713690	0.95[ASN][1000 genomes]
rs11714727	0.83[EUR][1000 genomes]
rs11715339	0.83[ASN][1000 genomes]
rs11715450	0.83[ASN][1000 genomes]
rs11716148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11716764	0.83[ASN][1000 genomes]
rs11717306	0.91[ASN][1000 genomes]
rs11717517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11718167	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11719151	0.83[ASN][1000 genomes]
rs11719793	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11719806	0.91[ASN][1000 genomes]
rs11720300	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs11720601	0.87[EUR][1000 genomes]
rs12488739	0.84[EUR][1000 genomes]
rs12488787	0.87[EUR][1000 genomes]
rs12488810	0.87[EUR][1000 genomes]
rs12493472	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12493495	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12493643	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12494971	1.00[CEU][hapmap]
rs13086211	0.83[ASN][1000 genomes]
rs13086954	0.83[ASN][1000 genomes]
rs34026748	0.87[EUR][1000 genomes]
rs34262349	0.91[ASN][1000 genomes]
rs35250413	0.83[ASN][1000 genomes]
rs3828397	0.84[EUR][1000 genomes]
rs4683413	1.00[CEU][hapmap]
rs4683415	0.87[EUR][1000 genomes]
rs4683419	0.91[ASN][1000 genomes]
rs4683422	0.83[ASN][1000 genomes]
rs4683654	0.84[EUR][1000 genomes]
rs4683655	0.84[EUR][1000 genomes]
rs4683656	0.87[EUR][1000 genomes]
rs4683657	0.87[EUR][1000 genomes]
rs4683659	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683660	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4683661	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4683663	0.80[ASN][1000 genomes]
rs4683665	0.91[ASN][1000 genomes]
rs4683669	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs4683670	0.83[ASN][1000 genomes]
rs4683673	0.83[ASN][1000 genomes]
rs4683674	0.83[ASN][1000 genomes]
rs4683675	0.83[ASN][1000 genomes]
rs55633822	0.83[ASN][1000 genomes]
rs55644127	0.95[ASN][1000 genomes]
rs55680729	0.91[ASN][1000 genomes]
rs55699824	0.80[EUR][1000 genomes]
rs55778028	0.95[ASN][1000 genomes]
rs55781914	0.83[ASN][1000 genomes]
rs55787733	0.91[ASN][1000 genomes]
rs55814508	0.83[ASN][1000 genomes]
rs55825152	0.83[ASN][1000 genomes]
rs55828926	0.83[ASN][1000 genomes]
rs55838256	0.83[ASN][1000 genomes]
rs55866605	0.83[ASN][1000 genomes]
rs55871523	0.91[ASN][1000 genomes]
rs55881752	0.83[ASN][1000 genomes]
rs55884097	0.83[ASN][1000 genomes]
rs55959014	0.91[ASN][1000 genomes]
rs56001234	0.84[EUR][1000 genomes]
rs56008466	0.83[ASN][1000 genomes]
rs56104495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56116145	0.91[ASN][1000 genomes]
rs56128490	0.91[ASN][1000 genomes]
rs56132950	0.83[ASN][1000 genomes]
rs56162837	0.87[EUR][1000 genomes]
rs56163066	0.83[ASN][1000 genomes]
rs56184282	0.87[EUR][1000 genomes]
rs56200713	0.91[ASN][1000 genomes]
rs56291098	0.83[ASN][1000 genomes]
rs56300836	0.91[ASN][1000 genomes]
rs56324837	0.91[ASN][1000 genomes]
rs56335846	0.84[ASN][1000 genomes]
rs56376383	0.83[ASN][1000 genomes]
rs56414145	0.83[ASN][1000 genomes]
rs60528783	0.83[ASN][1000 genomes]
rs61397493	0.89[EUR][1000 genomes]
rs61729566	0.95[ASN][1000 genomes]
rs61737218	0.95[ASN][1000 genomes]
rs73232653	0.91[ASN][1000 genomes]
rs73232654	0.91[ASN][1000 genomes]
rs73232655	0.80[ASN][1000 genomes]
rs73232657	0.91[ASN][1000 genomes]
rs73232659	0.91[ASN][1000 genomes]
rs73232663	0.91[ASN][1000 genomes]
rs73232664	0.91[ASN][1000 genomes]
rs73232666	0.91[ASN][1000 genomes]
rs73232667	0.91[ASN][1000 genomes]
rs73232670	0.91[ASN][1000 genomes]
rs73232672	0.91[ASN][1000 genomes]
rs73232673	0.91[ASN][1000 genomes]
rs73232675	0.91[ASN][1000 genomes]
rs73232677	0.91[ASN][1000 genomes]
rs73232678	0.91[ASN][1000 genomes]
rs73232684	0.91[ASN][1000 genomes]
rs73232685	0.91[ASN][1000 genomes]
rs73232688	0.87[ASN][1000 genomes]
rs73232693	0.91[ASN][1000 genomes]
rs73232695	0.91[ASN][1000 genomes]
rs73233851	0.91[ASN][1000 genomes]
rs73233852	0.91[ASN][1000 genomes]
rs73233853	0.91[ASN][1000 genomes]
rs73233879	0.83[ASN][1000 genomes]
rs73233880	0.83[ASN][1000 genomes]
rs73233881	0.83[ASN][1000 genomes]
rs73233885	0.83[ASN][1000 genomes]
rs73233886	0.83[ASN][1000 genomes]
rs73233890	0.83[ASN][1000 genomes]
rs73233891	0.83[ASN][1000 genomes]
rs73233892	0.83[ASN][1000 genomes]
rs73233893	0.83[ASN][1000 genomes]
rs73233896	0.83[ASN][1000 genomes]
rs73233897	0.83[ASN][1000 genomes]
rs73233898	0.83[ASN][1000 genomes]
rs73233900	0.83[ASN][1000 genomes]
rs73233902	0.83[ASN][1000 genomes]
rs73236004	0.83[ASN][1000 genomes]
rs73236005	0.83[ASN][1000 genomes]
rs73236007	0.83[ASN][1000 genomes]
rs73236009	0.83[ASN][1000 genomes]
rs73236012	0.83[ASN][1000 genomes]
rs73236013	0.83[ASN][1000 genomes]
rs73236016	0.83[ASN][1000 genomes]
rs73236018	0.83[ASN][1000 genomes]
rs73236030	0.83[ASN][1000 genomes]
rs73236032	0.83[ASN][1000 genomes]
rs73236033	0.83[ASN][1000 genomes]
rs73236034	0.83[ASN][1000 genomes]
rs73236039	0.83[ASN][1000 genomes]
rs73236040	0.83[ASN][1000 genomes]
rs73236048	0.83[ASN][1000 genomes]
rs73236052	0.83[ASN][1000 genomes]
rs73236053	0.83[ASN][1000 genomes]
rs9868050	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4683418	TFDP2	cis	multi-tissue	Pritchard
rs4683418	TFDP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141747400-141750800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr3:141747600-141748800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:141747600-141749000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr3:141747600-141749000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr3:141747600-141749000	Enhancers	Colon Smooth Muscle	Colon
6	chr3:141747600-141749200	Enhancers	Fetal Heart	heart
7	chr3:141747600-141750200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr3:141747600-141750400	Weak transcription	Primary B cells from cord blood	blood
9	chr3:141747600-141750600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:141747600-141750600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr3:141747600-141750800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:141747600-141751600	Weak transcription	HSMM	muscle
13	chr3:141747600-141752200	Weak transcription	Fetal Intestine Large	intestine
14	chr3:141747600-141752400	Weak transcription	Fetal Intestine Small	intestine
15	chr3:141747600-141762600	Weak transcription	Fetal Muscle Leg	muscle
16	chr3:141747600-141762800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:141747600-141773000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr3:141747600-141780400	Weak transcription	Left Ventricle	heart
19	chr3:141747800-141748800	Enhancers	Thymus	Thymus
20	chr3:141748200-141748800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:141748200-141749000	Enhancers	Dnd41	blood
22	chr3:141748200-141749000	Flanking Active TSS	K562	blood
23	chr3:141748200-141750600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:141748200-141753800	Weak transcription	Fetal Thymus	thymus
25	chr3:141748200-141754000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr3:141748200-141755200	Weak transcription	Aorta	Aorta
27	chr3:141748600-141749000	Enhancers	Skeletal Muscle Female	skeletal muscle

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