Variant report

Variant	rs10911708
Chromosome Location	chr1:185310210-185310211
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185284143..185286324-chr1:185309685..185311260,2	K562	blood:
2	chr1:185286206..185288234-chr1:185310085..185311597,2	MCF-7	breast:
3	chr1:185309831..185311372-chr1:185318119..185320699,2	MCF-7	breast:
4	chr1:185308094..185310941-chr1:185314344..185316672,2	MCF-7	breast:
5	chr1:185294862..185296528-chr1:185308605..185311231,2	K562	blood:

Variant related genes	Relation type
ENSG00000116679	Chromatin interaction
ENSG00000273004	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10157232	0.92[EUR][1000 genomes]
rs10158623	0.80[EUR][1000 genomes]
rs10174	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10798002	0.86[EUR][1000 genomes]
rs10798003	0.85[EUR][1000 genomes]
rs10798004	0.84[EUR][1000 genomes]
rs10798006	0.84[EUR][1000 genomes]
rs10911700	0.85[EUR][1000 genomes]
rs10911702	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10911704	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10911707	0.88[EUR][1000 genomes]
rs12026391	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12041704	0.81[EUR][1000 genomes]
rs12044943	0.94[EUR][1000 genomes]
rs12136040	0.85[EUR][1000 genomes]
rs17641003	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1889976	0.86[EUR][1000 genomes]
rs2152707	0.81[EUR][1000 genomes]
rs2224027	0.92[EUR][1000 genomes]
rs2281416	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2378909	0.87[EUR][1000 genomes]
rs2378910	0.87[EUR][1000 genomes]
rs34611062	0.83[EUR][1000 genomes]
rs57977436	0.84[EUR][1000 genomes]
rs6656019	0.94[EUR][1000 genomes]
rs66845254	0.94[EUR][1000 genomes]
rs6685627	0.87[EUR][1000 genomes]
rs6687774	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7123	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs726567	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7512337	0.92[EUR][1000 genomes]
rs7531487	0.87[EUR][1000 genomes]
rs7539575	0.85[EUR][1000 genomes]
rs7542721	0.85[EUR][1000 genomes]
rs7545878	0.93[EUR][1000 genomes]
rs883753	0.87[EUR][1000 genomes]
rs997283	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	esv2756872	chr1:185293197-185345771	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv2758981	chr1:185293197-185345771	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10911708	IVNS1ABP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185304200-185310600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:185306800-185311400	Weak transcription	Ovary	ovary
3	chr1:185307400-185310800	Enhancers	Primary T cells from cord blood	blood
4	chr1:185307400-185311000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:185307800-185311000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:185308200-185310400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:185308800-185310400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr1:185308800-185311000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr1:185308800-185317600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:185309000-185310800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr1:185309000-185310800	Enhancers	Primary B cells from cord blood	blood
12	chr1:185309000-185310800	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr1:185309400-185310600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:185309400-185310600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:185309400-185310800	Enhancers	Dnd41	blood
16	chr1:185309400-185315400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:185309600-185311400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:185309600-185312800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:185309600-185313800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:185309600-185314800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:185309600-185314800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:185309600-185315000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:185309600-185315000	Weak transcription	GM12878-XiMat	blood
24	chr1:185309600-185315200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:185309800-185310600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr1:185309800-185311000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:185309800-185313600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr1:185310200-185314400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:185310200-185315200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr1:185310200-185315200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr1:185310200-185315400	Weak transcription	Primary T cells fromperipheralblood	blood

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