Variant report

Variant	rs10919259
Chromosome Location	chr1:169831203-169831204
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169829331..169831761-chr1:169833787..169835986,2	K562	blood:
2	chr1:169829956..169832992-chr1:169860142..169863202,3	K562	blood:
3	chr1:169828508..169830396-chr1:169831117..169833390,3	K562	blood:
4	chr1:169826425..169828479-chr1:169831022..169833757,2	K562	blood:

Variant related genes	Relation type
ENSG00000000457	Chromatin interaction
ENSG00000239494	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10489172	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1062976	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10919246	0.91[EUR][1000 genomes]
rs10919250	0.90[AFR][1000 genomes]
rs10919252	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10919255	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10919256	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10919258	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11576078	0.90[AFR][1000 genomes]
rs12064636	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12089057	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12405525	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12410352	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12742961	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12760399	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16862745	0.81[AMR][1000 genomes]
rs17529513	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17603022	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2205846	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272917	0.93[ASN][1000 genomes]
rs2272918	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790399	0.83[ASN][1000 genomes]
rs3817858	0.93[ASN][1000 genomes]
rs6694855	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs67274208	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73026213	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73026223	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	esv1814601	chr1:169782006-169885186	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv1821503	chr1:169782006-169885186	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv1847722	chr1:169782006-169885186	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv2757760	chr1:169782006-169885186	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv2758976	chr1:169782006-169885186	Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv428268	chr1:169782006-169885186	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1845220	chr1:169782006-169933886	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv872542	chr1:169802760-169844093	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10919259	C1orf112	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169786200-169862400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:169786600-169841400	Strong transcription	Dnd41	blood
3	chr1:169791200-169841200	Strong transcription	Fetal Thymus	thymus
4	chr1:169805400-169848800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr1:169806600-169860000	Weak transcription	Stomach Mucosa	stomach
6	chr1:169808200-169841200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:169810400-169841400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:169810600-169841200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr1:169810800-169841000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:169810800-169841200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:169811000-169841400	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr1:169811600-169841200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:169811800-169836200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:169811800-169841400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:169812000-169840800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:169812800-169836400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:169813400-169841200	Strong transcription	Fetal Intestine Large	intestine
18	chr1:169814200-169838000	Strong transcription	Placenta	Placenta
19	chr1:169814400-169848600	Strong transcription	Duodenum Mucosa	Duodenum
20	chr1:169814600-169843200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:169814800-169836000	Strong transcription	Osteobl	bone
22	chr1:169814800-169848000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:169815000-169845200	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr1:169815200-169843000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:169815200-169848200	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:169815400-169848400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:169817800-169841000	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:169817800-169848600	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr1:169818000-169832000	Strong transcription	Left Ventricle	heart
30	chr1:169818000-169838400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:169818000-169842800	Strong transcription	Primary B cells from cord blood	blood
32	chr1:169818200-169841200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:169818200-169847800	Strong transcription	Adipose Nuclei	Adipose
34	chr1:169819000-169848200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:169819400-169847000	Strong transcription	Liver	Liver
36	chr1:169820200-169832200	Strong transcription	Fetal Muscle Leg	muscle
37	chr1:169820200-169841400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr1:169820400-169842600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:169820400-169844800	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:169820400-169847200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:169820600-169837000	Strong transcription	Brain Cingulate Gyrus	brain
42	chr1:169820600-169839200	Strong transcription	Fetal Brain Female	brain
43	chr1:169820600-169843000	Strong transcription	Primary T cells from cord blood	blood
44	chr1:169820600-169847800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:169820600-169847800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr1:169820600-169848400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:169820600-169848600	Strong transcription	Fetal Lung	lung
48	chr1:169821000-169841200	Strong transcription	Primary hematopoietic stem cells	blood
49	chr1:169821600-169836000	Strong transcription	Brain Germinal Matrix	brain
50	chr1:169821600-169845200	Strong transcription	Stomach Smooth Muscle	stomach

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