Variant report

Variant	rs4683691
Chromosome Location	chr3:142376128-142376129
allele	A/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	CTCF	chr3:142376128-142376144	HepG2	liver:	n/a	n/a
2	CTCF	chr3:142376020-142376170	MCF-7	breast:	n/a	chr3:142376138-142376146
3	CTCF	chr3:142376000-142376150	HCT-116	colon:	n/a	chr3:142376138-142376146
4	CTCF	chr3:142376038-142376135	MCF-7	breast:	n/a	n/a
5	MAFK	chr3:142375883-142376146	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr3:142375961-142376225	H1-hESC	embryonic stem cell:	n/a	chr3:142376141-142376148
7	CTCF	chr3:142376030-142376171	MCF-7	breast:	n/a	chr3:142376138-142376146
8	CTCF	chr3:142376036-142376146	MCF-7	breast:	n/a	chr3:142376138-142376146
9	CTCF	chr3:142376040-142376190	HEK293	kidney:	n/a	chr3:142376138-142376146

Variant related genes	Relation type
PLS1-AS1	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11715610	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12695767	0.90[ASN][1000 genomes]
rs12695768	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13058771	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13069113	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13079246	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13080785	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13099848	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13100985	0.94[ASN][1000 genomes]
rs1357529	0.93[ASN][1000 genomes]
rs1357530	0.93[ASN][1000 genomes]
rs16852486	0.95[ASN][1000 genomes]
rs17623267	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1916639	0.94[ASN][1000 genomes]
rs1983434	0.93[ASN][1000 genomes]
rs1983435	0.93[ASN][1000 genomes]
rs2012010	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2030613	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2049325	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2049326	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2140432	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2177396	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2354175	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2354860	0.89[ASN][1000 genomes]
rs2883380	0.94[ASN][1000 genomes]
rs3736560	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3736561	0.94[ASN][1000 genomes]
rs4413348	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4683688	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4683689	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4683690	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6440098	0.93[ASN][1000 genomes]
rs6440099	0.94[ASN][1000 genomes]
rs6440102	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6775813	0.91[ASN][1000 genomes]
rs6783203	0.93[ASN][1000 genomes]
rs6784089	0.94[ASN][1000 genomes]
rs6784361	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6785894	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6793735	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6797492	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6798232	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6802734	0.93[ASN][1000 genomes]
rs6802774	0.93[ASN][1000 genomes]
rs6808205	0.93[ASN][1000 genomes]
rs6808302	0.93[ASN][1000 genomes]
rs7430429	0.95[ASN][1000 genomes]
rs7609842	0.81[ASN][1000 genomes]
rs7615316	0.93[ASN][1000 genomes]
rs7631313	0.93[ASN][1000 genomes]
rs7635146	0.92[ASN][1000 genomes]
rs7646880	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7648354	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs940211	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs940212	0.95[ASN][1000 genomes]
rs9824176	0.81[ASN][1000 genomes]
rs9824893	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9832606	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9866958	0.81[AMR][1000 genomes]
rs9882763	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932989	chr3:142204208-142423305	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142366000-142435400	Weak transcription	Colonic Mucosa	Colon
2	chr3:142369200-142379200	Weak transcription	Dnd41	blood
3	chr3:142369400-142408400	Weak transcription	Pancreas	Pancrea
4	chr3:142371000-142393800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:142372000-142382000	Weak transcription	HepG2	liver
6	chr3:142372000-142382800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:142372200-142379200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:142372600-142381800	Weak transcription	Fetal Intestine Small	intestine
9	chr3:142372600-142391200	Weak transcription	K562	blood
10	chr3:142375200-142376200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:142375400-142376400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr3:142375400-142376400	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr3:142375800-142376200	Enhancers	Liver	Liver
14	chr3:142375800-142376200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr3:142375800-142376200	Enhancers	A549	lung
16	chr3:142375800-142376600	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr3:142375800-142377200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr3:142376000-142376200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:142376000-142376200	Enhancers	Fetal Intestine Large	intestine
20	chr3:142376000-142376200	Enhancers	Spleen	Spleen
21	chr3:142376000-142382400	Weak transcription	Duodenum Mucosa	Duodenum

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