Variant report

Variant	rs74156309
Chromosome Location	chr10:112666697-112666698
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:112666681-112666870	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:112665392..112668187-chr10:112668256..112671887,3	MCF-7	breast:
2	chr10:112657896..112660333-chr10:112666358..112668464,2	K562	blood:
3	chr10:112664345..112669629-chr10:112675236..112680543,10	K562	blood:
4	chr10:112660652..112664278-chr10:112666505..112669018,4	K562	blood:
5	chr10:112664593..112668677-chr10:112669632..112672354,5	MCF-7	breast:

No data

Variant related genes	Relation type
BBIP1	TF binding region
ENSG00000270589	TF binding region
ENSG00000214413	Chromatin interaction
ENSG00000108061	Chromatin interaction
ENSG00000270589	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11195368	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11195373	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11195376	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11195409	0.89[EUR][1000 genomes]
rs11592186	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11592376	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11593462	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11593479	1.00[EUR][1000 genomes]
rs11593592	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11593866	0.89[EUR][1000 genomes]
rs11597120	1.00[EUR][1000 genomes]
rs11597460	1.00[EUR][1000 genomes]
rs11597928	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11812232	0.89[EUR][1000 genomes]
rs11812855	1.00[EUR][1000 genomes]
rs11813262	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11813593	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11814418	0.94[EUR][1000 genomes]
rs11814686	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11816033	0.94[EUR][1000 genomes]
rs11816247	1.00[EUR][1000 genomes]
rs11816269	1.00[EUR][1000 genomes]
rs11816396	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11818060	1.00[EUR][1000 genomes]
rs11818747	1.00[EUR][1000 genomes]
rs11818761	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11818771	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11818869	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12781566	1.00[ASN][1000 genomes]
rs1322997	0.92[EUR][1000 genomes]
rs1327556	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1535559	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128189	1.00[EUR][1000 genomes]
rs1885796	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34104444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55647014	0.95[EUR][1000 genomes]
rs55858908	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56237211	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60633872	1.00[EUR][1000 genomes]
rs60681723	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60877808	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61469604	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6585018	0.92[EUR][1000 genomes]
rs6585020	0.95[EUR][1000 genomes]
rs7081726	1.00[EUR][1000 genomes]
rs74156303	1.00[ASN][1000 genomes]
rs74156304	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74156305	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156307	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156308	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156310	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156311	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74156320	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74156323	1.00[EUR][1000 genomes]
rs7923004	1.00[EUR][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	nsv1045608	chr10:112524813-112677557	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1041758	chr10:112552897-112677557	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1051566	chr10:112580049-112730573	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1035602	chr10:112636053-112781413	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1051327	chr10:112650316-112772917	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv540774	chr10:112650316-112772917	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv831985	chr10:112652089-112803103	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1047865	chr10:112660427-112730573	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112632800-112678000	Weak transcription	Lung	lung
2	chr10:112632800-112678200	Weak transcription	Spleen	Spleen
3	chr10:112634800-112677400	Weak transcription	HUVEC	blood vessel
4	chr10:112643000-112667200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr10:112644200-112678000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:112644800-112675000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:112646400-112676400	Weak transcription	K562	blood
8	chr10:112647200-112677400	Weak transcription	Fetal Brain Male	brain
9	chr10:112651200-112670000	Weak transcription	Fetal Stomach	stomach
10	chr10:112656200-112672200	Weak transcription	Fetal Heart	heart
11	chr10:112656200-112677400	Weak transcription	Stomach Mucosa	stomach
12	chr10:112656400-112676400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr10:112656400-112677600	Weak transcription	Right Ventricle	heart
14	chr10:112657200-112672400	Weak transcription	Fetal Intestine Small	intestine
15	chr10:112657200-112675000	Weak transcription	Ovary	ovary
16	chr10:112657400-112672800	Weak transcription	HepG2	liver
17	chr10:112657400-112677600	Weak transcription	Psoas Muscle	Psoas
18	chr10:112657400-112677600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr10:112657400-112677800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr10:112657400-112677800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr10:112657400-112678000	Weak transcription	Gastric	stomach
22	chr10:112657600-112677600	Weak transcription	Fetal Brain Female	brain
23	chr10:112659200-112667000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr10:112659200-112676400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr10:112659400-112677600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr10:112659600-112677600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr10:112659800-112675800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr10:112660200-112676000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr10:112660400-112670200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr10:112660400-112675800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr10:112660400-112676200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr10:112660400-112677000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr10:112660600-112677200	Weak transcription	Dnd41	blood
34	chr10:112661000-112667000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr10:112661000-112677000	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr10:112661000-112677200	Weak transcription	Fetal Intestine Large	intestine
37	chr10:112661200-112676400	Weak transcription	Aorta	Aorta
38	chr10:112661400-112671000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr10:112661600-112677600	Weak transcription	Brain Germinal Matrix	brain
40	chr10:112661800-112675000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr10:112661800-112676000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr10:112662000-112676000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr10:112662200-112675600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr10:112662200-112676400	Weak transcription	Adipose Nuclei	Adipose
45	chr10:112662200-112677200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr10:112662400-112671800	Weak transcription	NH-A	brain
47	chr10:112662400-112676200	Weak transcription	Liver	Liver
48	chr10:112662400-112676400	Weak transcription	Fetal Kidney	kidney
49	chr10:112662400-112676600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr10:112662600-112671800	Weak transcription	HSMMtube	muscle

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