Variant report

Variant	rs1054032
Chromosome Location	chr7:117835656-117835657
allele	A/T
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:117833281..117835799-chr7:117836785..117838521,2	MCF-7	breast:
2	chr7:117834706..117839817-chr7:117854613..117858941,5	K562	blood:
3	chr7:117685833..117688734-chr7:117834237..117836317,2	K562	blood:
4	chr7:117123377..117126210-chr7:117833079..117835993,3	K562	blood:
5	chr7:117835525..117838380-chr7:117865050..117867504,3	K562	blood:
6	chr7:117794437..117796815-chr7:117833814..117836624,2	K562	blood:
7	chr7:117390798..117391333-chr7:117835615..117836224,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106013	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10085904	0.91[CEU][hapmap];0.85[CHB][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs10226152	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10227326	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10229589	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10241875	0.89[EUR][1000 genomes]
rs10252627	0.88[EUR][1000 genomes]
rs10267938	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10487390	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1061731	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953864	0.94[EUR][1000 genomes]
rs1117254	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11486992	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11543742	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770353	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11979012	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.94[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12112697	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs12537795	0.91[CEU][hapmap];0.85[CHB][hapmap];0.94[EUR][1000 genomes]
rs12667103	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12673046	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13224733	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2041527	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs2041528	0.81[EUR][1000 genomes]
rs2058416	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2058417	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2191920	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2402322	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2896242	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3802012	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4141028	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41900	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41901	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41902	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41905	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41906	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41909	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41910	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41911	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41915	0.90[EUR][1000 genomes]
rs41916	0.90[EUR][1000 genomes]
rs41926	0.90[EUR][1000 genomes]
rs41933	0.88[EUR][1000 genomes]
rs41934	0.90[EUR][1000 genomes]
rs41935	0.90[EUR][1000 genomes]
rs41938	0.90[EUR][1000 genomes]
rs41939	0.90[EUR][1000 genomes]
rs41945	0.80[EUR][1000 genomes]
rs41960	0.84[EUR][1000 genomes]
rs5002233	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6466650	0.84[EUR][1000 genomes]
rs6942513	0.83[CEU][hapmap]
rs6944524	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6946855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6948096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6956486	0.94[EUR][1000 genomes]
rs6964911	0.91[CEU][hapmap];0.85[CHB][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6965144	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7779933	0.93[EUR][1000 genomes]
rs7796145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7796148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7797855	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7799229	0.91[CEU][hapmap];0.80[CHB][hapmap];0.86[JPT][hapmap];0.92[EUR][1000 genomes]
rs7806490	0.85[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs917761	0.91[EUR][1000 genomes]
rs9655829	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9656260	0.94[EUR][1000 genomes]
rs979652	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9886333	0.82[EUR][1000 genomes]
rs989899	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv889088	chr7:117744660-117913648	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1054032	NAA38	cis	lymphoblastoid	seeQTL
rs1054032	LSM8	cis	Liver	GTEx
rs1054032	ANKRD7	cis	cerebellum	SCAN
rs1054032	LSM8	cis	multi-tissue	Pritchard
rs1054032	ANKRD7	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117825000-117842200	Weak transcription	Aorta	Aorta
2	chr7:117825600-117837200	Weak transcription	Left Ventricle	heart
3	chr7:117825800-117836600	Weak transcription	Psoas Muscle	Psoas
4	chr7:117825800-117842600	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:117828400-117835800	Weak transcription	Brain Substantia Nigra	brain
6	chr7:117828400-117836000	Weak transcription	Fetal Kidney	kidney
7	chr7:117828800-117838800	Weak transcription	Primary B cells from cord blood	blood
8	chr7:117829800-117840800	Weak transcription	Primary T cells from cord blood	blood
9	chr7:117830400-117842400	Weak transcription	Fetal Lung	lung
10	chr7:117831200-117836000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:117831200-117842400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:117831400-117839800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:117832200-117836400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:117832600-117836200	Weak transcription	Adipose Nuclei	Adipose
15	chr7:117832600-117836400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:117832800-117842200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:117833000-117837200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:117833000-117854000	Weak transcription	HSMM	muscle
19	chr7:117833200-117836200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:117833200-117837000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:117833400-117842200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:117833600-117854000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:117834000-117835800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr7:117834000-117836600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr7:117834000-117836800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr7:117834000-117839400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:117834000-117842000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:117834200-117835800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:117834200-117835800	Weak transcription	Hela-S3	cervix
30	chr7:117834200-117835800	Weak transcription	K562	blood
31	chr7:117834200-117836200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:117834400-117836200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:117834400-117843400	Weak transcription	Fetal Thymus	thymus
34	chr7:117834600-117836200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:117835000-117837200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:117835000-117838200	Weak transcription	Dnd41	blood

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