Variant report

Variant	rs2341622
Chromosome Location	chr14:55737243-55737244
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr14:55737087-55739264	Hela-S3	cervix:	n/a	n/a
2	RFX5	chr14:55736818-55738335	SK-N-SH	brain:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55517347..55519818-chr14:55736283..55739378,3	MCF-7	breast:
2	chr14:55736427..55740242-chr14:55801434..55807681,7	MCF-7	breast:
3	chr14:55736450..55738716-chr14:55817481..55820238,2	K562	blood:
4	chr14:55657821..55660879-chr14:55735073..55739609,4	K562	blood:
5	chr14:55705409..55707823-chr14:55736627..55738832,2	K562	blood:
6	chr14:55706045..55707823-chr14:55736335..55738127,2	K562	blood:
7	chr14:55736930..55738808-chr14:55763982..55767802,4	MCF-7	breast:
8	chr14:55736795..55740558-chr14:55765144..55770564,6	K562	blood:
9	chr14:55736665..55740457-chr14:55875135..55883763,10	K562	blood:
10	chr14:55736296..55738259-chr14:55878149..55880015,2	MCF-7	breast:
11	chr14:55723404..55725998-chr14:55735499..55737800,2	K562	blood:

No data

Variant related genes	Relation type
FBXO34	TF binding region
ENSG00000126787	Chromatin interaction
ENSG00000271180	Chromatin interaction
ENSG00000126775	Chromatin interaction
ENSG00000258455	Chromatin interaction
ENSG00000239199	Chromatin interaction
ENSG00000258469	Chromatin interaction
ENSG00000168175	Chromatin interaction
ENSG00000178974	Chromatin interaction

Extended variants
information (count: 144 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:144)

rs_ID	r²[population]
rs1009977	0.90[TSI][hapmap]
rs1009978	0.81[CEU][hapmap]
rs10129505	0.86[CHB][hapmap]
rs10131562	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs10131730	0.81[CHB][hapmap]
rs10131913	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10131926	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10134317	0.86[CHB][hapmap]
rs10134339	1.00[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap]
rs10134800	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10136596	0.89[CEU][hapmap];0.81[CHB][hapmap]
rs10137307	0.88[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap]
rs10138446	0.89[ASW][hapmap];0.85[MEX][hapmap]
rs10139083	0.91[EUR][1000 genomes]
rs10139337	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10139678	0.90[EUR][1000 genomes]
rs10140801	0.89[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10140869	0.85[CEU][hapmap];0.86[CHB][hapmap];0.85[EUR][1000 genomes]
rs10141396	0.81[CHB][hapmap]
rs10141483	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10141552	0.89[CEU][hapmap];0.86[CHB][hapmap];0.90[TSI][hapmap];0.94[EUR][1000 genomes]
rs10142448	0.89[CEU][hapmap];0.81[CHB][hapmap];0.90[TSI][hapmap]
rs10142547	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10142823	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10144345	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10144418	0.85[CEU][hapmap];0.80[CHB][hapmap];0.85[TSI][hapmap]
rs10145203	0.89[EUR][1000 genomes]
rs10146637	0.86[CHB][hapmap]
rs10149420	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10150699	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10150760	0.89[CEU][hapmap];0.81[CHB][hapmap];0.90[TSI][hapmap]
rs1045002	0.89[CEU][hapmap];0.81[CHB][hapmap]
rs10467798	0.96[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1109170	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];0.91[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11158034	0.86[CHB][hapmap]
rs11547116	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11625001	0.92[CEU][hapmap];0.86[CHB][hapmap];0.90[TSI][hapmap];0.93[EUR][1000 genomes]
rs11625423	0.88[EUR][1000 genomes]
rs11625968	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs11628437	0.92[CEU][hapmap];0.86[CHB][hapmap];0.89[EUR][1000 genomes]
rs11851169	0.92[CEU][hapmap];0.81[CHB][hapmap]
rs12050099	0.89[EUR][1000 genomes]
rs13379169	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1538257	0.89[ASW][hapmap];0.85[MEX][hapmap]
rs1572611	0.81[CHB][hapmap]
rs17128440	0.81[EUR][1000 genomes]
rs17674463	0.89[CEU][hapmap];0.81[CHB][hapmap]
rs17740741	0.85[CEU][hapmap];0.86[CHB][hapmap];0.89[EUR][1000 genomes]
rs17741542	0.92[CEU][hapmap];0.86[CHB][hapmap];0.90[TSI][hapmap]
rs17741831	0.89[CEU][hapmap];0.81[CHB][hapmap]
rs1815581	0.82[AMR][1000 genomes]
rs1952087	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1972221	0.86[CHB][hapmap]
rs2009291	1.00[ASW][hapmap];0.89[CEU][hapmap];0.81[CHB][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2026633	0.86[CHB][hapmap]
rs2075601	0.89[ASW][hapmap];0.85[CEU][hapmap];0.83[GIH][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs2075602	0.89[ASW][hapmap];0.88[CEU][hapmap];0.83[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs2147964	1.00[YRI][hapmap]
rs2274273	0.85[TSI][hapmap]
rs2340921	1.00[YRI][hapmap]
rs2341621	0.96[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28568813	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28631821	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28716725	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2880103	0.86[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs3742569	0.89[CEU][hapmap];0.81[CHB][hapmap];0.90[TSI][hapmap]
rs3783650	1.00[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3783651	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs3783652	0.92[CEU][hapmap];0.81[CHB][hapmap]
rs3818451	0.81[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs3825613	0.82[TSI][hapmap]
rs3825616	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4366639	0.88[EUR][1000 genomes]
rs4496026	0.88[EUR][1000 genomes]
rs4519260	0.87[AMR][1000 genomes]
rs4597235	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4644	0.82[TSI][hapmap]
rs4652	0.80[ASW][hapmap];0.81[CEU][hapmap];0.83[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]
rs56166765	0.84[ASN][1000 genomes]
rs56949365	0.88[EUR][1000 genomes]
rs58260073	0.92[EUR][1000 genomes]
rs59629906	0.91[EUR][1000 genomes]
rs59871474	0.91[EUR][1000 genomes]
rs60248556	0.93[EUR][1000 genomes]
rs61210954	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6573007	0.82[AMR][1000 genomes]
rs6573009	0.87[ASW][hapmap];0.92[CEU][hapmap];0.82[CHB][hapmap];0.93[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6573010	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6573012	0.89[AMR][1000 genomes]
rs6573013	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6573014	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573017	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6573020	0.96[CEU][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.92[TSI][hapmap]
rs66486619	0.80[EUR][1000 genomes]
rs66696758	0.92[EUR][1000 genomes]
rs67514154	0.93[EUR][1000 genomes]
rs68046603	0.90[EUR][1000 genomes]
rs7142857	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7144292	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7144737	0.89[CEU][hapmap];0.81[CHB][hapmap];0.90[TSI][hapmap]
rs7146748	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7146752	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147106	0.83[AMR][1000 genomes]
rs7147247	0.86[CHB][hapmap]
rs7148171	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7150763	0.81[CHB][hapmap]
rs7151581	0.86[CHB][hapmap]
rs7152390	0.84[CHB][hapmap]
rs7153110	1.00[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.81[EUR][1000 genomes]
rs7153612	0.89[EUR][1000 genomes]
rs7153645	0.92[EUR][1000 genomes]
rs7154889	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7155954	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs7158768	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7158791	0.81[CHB][hapmap]
rs7158861	0.81[EUR][1000 genomes]
rs7159144	0.88[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7159808	0.85[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs7159824	0.86[CHB][hapmap]
rs7160110	0.90[TSI][hapmap]
rs7160523	0.89[ASW][hapmap];0.85[CEU][hapmap];0.83[GIH][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs72715769	0.93[EUR][1000 genomes]
rs8004787	0.88[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs8005450	0.86[CHB][hapmap]
rs8006525	0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs8007614	0.85[CEU][hapmap]
rs8007620	0.85[CEU][hapmap]
rs8009670	0.85[CEU][hapmap];1.00[YRI][hapmap]
rs8011288	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8013713	0.92[CEU][hapmap];0.81[CHB][hapmap];0.90[TSI][hapmap]
rs8014477	0.81[CHB][hapmap]
rs8014540	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs8015211	0.81[CHB][hapmap]
rs8018110	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs8019978	1.00[YRI][hapmap]
rs8021583	0.92[CEU][hapmap];0.86[CHB][hapmap];0.94[EUR][1000 genomes]
rs8022225	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8023197	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs9323284	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9323285	0.82[JPT][hapmap]
rs943590	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs946059	1.00[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9919926	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs9919932	0.81[CHB][hapmap]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2341622	ATG14	cis	parietal	SCAN
rs2341622	RP11-665C16.6	cis	Muscle Skeletal	GTEx
rs2341622	FBXO34	cis	cerebellum	SCAN
rs2341622	WDHD1	cis	parietal	SCAN
rs2341622	PSMA3	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55730600-55737400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr14:55732600-55737400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr14:55734000-55737600	Weak transcription	Lung	lung
4	chr14:55734400-55737400	Weak transcription	Fetal Lung	lung
5	chr14:55734800-55737400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr14:55734800-55737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:55734800-55737800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr14:55735000-55737400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:55735000-55737600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:55735000-55737600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:55735000-55737600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:55735000-55737800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:55735200-55737400	Weak transcription	Fetal Heart	heart
14	chr14:55735200-55737600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:55735200-55737600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:55735200-55737600	Weak transcription	Aorta	Aorta
17	chr14:55735200-55737600	Weak transcription	HSMMtube	muscle
18	chr14:55735200-55737800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:55735400-55737600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:55735400-55737600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:55735800-55737400	Weak transcription	Fetal Kidney	kidney
22	chr14:55737000-55737400	Enhancers	GM12878-XiMat	blood
23	chr14:55737200-55737400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:55737200-55737400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr14:55737200-55737400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr14:55737200-55737400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:55737200-55737400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:55737200-55737400	Enhancers	Rectal Smooth Muscle	rectum
29	chr14:55737200-55737400	Enhancers	A549	lung
30	chr14:55737200-55737400	Enhancers	HMEC	breast
31	chr14:55737200-55737600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:55737200-55737600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr14:55737200-55737600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:55737200-55737600	Enhancers	Dnd41	blood
35	chr14:55737200-55737600	Enhancers	Osteobl	bone

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