Variant report

Variant	rs11994629
Chromosome Location	chr8:55013947-55013948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:43147767..43148594-chr8:55013821..55014667,2	HCT-116	colon:
2	chr8:54791937..54794536-chr8:55012642..55014305,2	K562	blood:
3	chr8:55012232..55015363-chr8:55063151..55067460,5	K562	blood:
4	chr8:55012759..55014929-chr8:55046340..55050101,4	K562	blood:
5	chr8:55013205..55015046-chr8:55046385..55049225,2	MCF-7	breast:
6	chr8:54929833..54936668-chr8:55008421..55016367,12	K562	blood:
7	chr8:54933970..54936104-chr8:55012695..55015394,2	MCF-7	breast:
8	chr8:55012569..55016203-chr8:55046168..55049938,7	MCF-7	breast:
9	chr8:54931365..54936825-chr8:55013053..55016452,9	MCF-7	breast:
10	chr8:9412503..9413441-chr8:55013581..55014482,2	Hela-S3	cervix:
11	chr8:55012350..55016130-chr8:55063151..55067016,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137547	Chromatin interaction
ENSG00000065978	Chromatin interaction
ENSG00000173273	Chromatin interaction
ENSG00000251835	Chromatin interaction
ENSG00000147509	Chromatin interaction
ENSG00000187735	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10101097	0.86[ASN][1000 genomes]
rs10113246	0.82[ASN][1000 genomes]
rs1039926	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs10504161	0.87[CHB][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap]
rs1050523	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.83[ASN][1000 genomes]
rs10958396	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10958397	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs11783652	0.82[CHB][hapmap]
rs11986577	1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.82[ASN][1000 genomes]
rs11991952	0.87[CHB][hapmap];0.89[GIH][hapmap];0.80[JPT][hapmap]
rs11993367	0.89[ASN][1000 genomes]
rs11993959	0.87[CHB][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap]
rs11996128	0.89[EUR][1000 genomes]
rs11996666	0.85[ASN][1000 genomes]
rs11997954	0.85[ASN][1000 genomes]
rs12056381	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12114043	0.81[CHB][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap]
rs12674671	0.85[ASN][1000 genomes]
rs12674895	0.89[EUR][1000 genomes]
rs12676510	0.81[ASN][1000 genomes]
rs12679103	0.90[EUR][1000 genomes]
rs12679542	0.87[CHB][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap]
rs16919699	0.80[CHB][hapmap]
rs16919782	0.87[CHB][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap]
rs16919784	0.87[CHB][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap]
rs1828835	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2037068	0.89[ASN][1000 genomes]
rs2271567	0.91[CEU][hapmap];0.87[CHB][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.84[TSI][hapmap];0.92[EUR][1000 genomes]
rs2292590	0.91[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap];0.92[EUR][1000 genomes]
rs2375696	0.90[EUR][1000 genomes]
rs2375697	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28494618	0.84[ASN][1000 genomes]
rs28573859	0.84[EUR][1000 genomes]
rs34997387	0.84[EUR][1000 genomes]
rs4440612	1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.84[ASN][1000 genomes]
rs4506187	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4515510	0.84[ASN][1000 genomes]
rs4737457	0.89[ASN][1000 genomes]
rs4737479	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4737485	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4737486	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737487	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4737488	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4738519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4738556	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4738586	0.84[ASN][1000 genomes]
rs57872947	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58387069	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58419852	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58929175	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs58948369	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59882028	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60183530	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61213253	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61271559	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61319412	0.85[ASN][1000 genomes]
rs61477279	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6473900	0.85[ASN][1000 genomes]
rs6473909	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6473911	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs6473914	0.87[CHB][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap]
rs6473915	0.87[CHB][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap]
rs6983694	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009781	0.84[ASN][1000 genomes]
rs7011379	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7011430	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7012031	0.87[CHB][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap]
rs72614663	0.84[ASN][1000 genomes]
rs72614664	0.85[ASN][1000 genomes]
rs72614665	0.85[ASN][1000 genomes]
rs72614666	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72614667	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72614668	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72614670	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72614671	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7463083	1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap]
rs7463261	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7464767	1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.84[ASN][1000 genomes]
rs7815216	0.83[ASN][1000 genomes]
rs7842911	0.93[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9298497	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs952194	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9643823	0.85[ASN][1000 genomes]
rs9643824	0.84[ASN][1000 genomes]
rs981638	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1026869	chr8:54989732-55089360	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv890921	chr8:54991447-55043802	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv890922	chr8:54994759-55023494	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv890923	chr8:54994759-55049255	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv890924	chr8:54994759-55052148	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
11	nsv890925	chr8:55005489-55052148	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11994629	TCEA1	cis	lymphoblastoid	seeQTL
rs11994629	MRPL15	cis	lymphoblastoid	seeQTL
rs11994629	MRPL15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:55012200-55014800	Active TSS	Hela-S3	cervix
2	chr8:55012200-55015200	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr8:55012400-55014600	Active TSS	NHEK	skin
4	chr8:55012400-55014800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr8:55012400-55015400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:55012600-55014200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:55012600-55014600	Active TSS	HMEC	breast
8	chr8:55012600-55014800	Active TSS	H1 Cell Line	embryonic stem cell
9	chr8:55012600-55014800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:55012600-55014800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr8:55012600-55014800	Active TSS	A549	lung
12	chr8:55012600-55014800	Active TSS	GM12878-XiMat	blood
13	chr8:55012800-55014000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr8:55012800-55014000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:55012800-55014000	Active TSS	Right Atrium	heart
16	chr8:55012800-55014400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:55012800-55014600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:55012800-55014800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:55012800-55014800	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr8:55012800-55014800	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr8:55012800-55014800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:55012800-55014800	Active TSS	HepG2	liver
23	chr8:55012800-55015000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:55012800-55015000	Active TSS	Primary T cells from cord blood	blood
25	chr8:55012800-55015000	Active TSS	Brain Germinal Matrix	brain
26	chr8:55012800-55015000	Active TSS	Psoas Muscle	Psoas
27	chr8:55012800-55015000	Active TSS	NHLF	lung
28	chr8:55012800-55015200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:55012800-55015400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:55013000-55014000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr8:55013000-55014000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:55013000-55014000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:55013000-55014000	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr8:55013000-55014600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:55013000-55014600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:55013000-55014800	Active TSS	H9 Cell Line	embryonic stem cell
37	chr8:55013000-55014800	Active TSS	Colonic Mucosa	Colon
38	chr8:55013000-55014800	Active TSS	Placenta	Placenta
39	chr8:55013000-55014800	Active TSS	Fetal Thymus	thymus
40	chr8:55013000-55014800	Active TSS	Right Ventricle	heart
41	chr8:55013000-55014800	Active TSS	K562	blood
42	chr8:55013000-55014800	Active TSS	NH-A	brain
43	chr8:55013000-55014800	Active TSS	NHDF-Ad	bronchial
44	chr8:55013000-55015000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:55013000-55015000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:55013000-55015000	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr8:55013000-55015000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr8:55013000-55015000	Active TSS	Brain Anterior Caudate	brain
49	chr8:55013000-55015000	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr8:55013000-55015000	Active TSS	Rectal Mucosa Donor 31	rectum

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