Variant report

Variant	rs12354710
Chromosome Location	chr10:1114020-1114021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:1113860..1116650-chr10:1118248..1120322,2	K562	blood:
2	chr10:1112637..1115421-chr10:1115879..1118083,3	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10903358	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12777800	0.84[AMR][1000 genomes]
rs2101051	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28512382	0.91[AMR][1000 genomes]
rs34034003	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34159706	0.84[AMR][1000 genomes]
rs35657988	0.85[AMR][1000 genomes]
rs36051896	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4880763	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs66797613	0.91[AMR][1000 genomes]
rs67205460	0.91[AMR][1000 genomes]
rs67696450	0.91[AMR][1000 genomes]
rs7091502	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72760941	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72760943	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv540386	chr10:224406-1197416	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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 miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1054659	chr10:611444-1133578	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
3	nsv466697	chr10:734229-1129527	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv549765	chr10:734229-1129527	Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv530116	chr10:776548-1401075	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv1052540	chr10:887562-1300134	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv540407	chr10:887562-1300134	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv533861	chr10:945438-1382068	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv530117	chr10:945438-1729634	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv540408	chr10:955835-1260680	Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv817532	chr10:964660-1885945	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv1050577	chr10:986723-1277854	Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv540409	chr10:986723-1277854	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer 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	30 gene(s)	inside rSNPs	diseases
14	nsv949405	chr10:1010464-1376105	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv1048254	chr10:1016006-1146595	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
16	nsv1040178	chr10:1024910-1126104	Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription 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	26 gene(s)	inside rSNPs	diseases
17	nsv540410	chr10:1024910-1126104	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
18	nsv894722	chr10:1058837-1274538	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
19	nsv1046220	chr10:1064024-1188998	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
20	nsv894723	chr10:1073684-1259485	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	24 gene(s)	inside rSNPs	diseases
21	nsv894724	chr10:1084942-1116294	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
22	nsv894725	chr10:1110464-1421516	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12354710	IDI1	cis	brain	BrainEAC
rs12354710	GTPBP4///IDI2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1103600-1119400	Weak transcription	Aorta	Aorta
2	chr10:1103600-1119600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:1103800-1118200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr10:1104200-1116800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:1104200-1116800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr10:1104200-1118000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:1104200-1118200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr10:1104200-1118200	Weak transcription	Brain Angular Gyrus	brain
9	chr10:1104200-1119200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr10:1104200-1119200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr10:1104200-1119600	Weak transcription	Fetal Lung	lung
12	chr10:1104200-1119600	Weak transcription	Psoas Muscle	Psoas
13	chr10:1104200-1119600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr10:1104400-1115800	Weak transcription	Ovary	ovary
15	chr10:1104400-1116800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr10:1104400-1116800	Weak transcription	Small Intestine	intestine
17	chr10:1104400-1118000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr10:1104400-1118000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr10:1104400-1118000	Weak transcription	Fetal Muscle Leg	muscle
20	chr10:1104400-1118000	Weak transcription	HSMMtube	muscle
21	chr10:1104400-1119600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr10:1104400-1119600	Weak transcription	Brain Germinal Matrix	brain
23	chr10:1104400-1119600	Weak transcription	Brain Hippocampus Middle	brain
24	chr10:1104400-1125800	Weak transcription	A549	lung
25	chr10:1104600-1124400	Weak transcription	Colon Smooth Muscle	Colon
26	chr10:1104800-1114800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr10:1104800-1116800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr10:1104800-1118000	Weak transcription	Adipose Nuclei	Adipose
29	chr10:1104800-1125200	Weak transcription	K562	blood
30	chr10:1104800-1125800	Weak transcription	Fetal Brain Male	brain
31	chr10:1107000-1116800	Weak transcription	Esophagus	oesophagus
32	chr10:1107000-1118000	Weak transcription	Pancreas	Pancrea
33	chr10:1107600-1118000	Weak transcription	GM12878-XiMat	blood
34	chr10:1108200-1116800	Weak transcription	Right Atrium	heart
35	chr10:1108200-1118000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr10:1108400-1116800	Weak transcription	HSMM	muscle
37	chr10:1108600-1118200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr10:1108600-1142400	Weak transcription	Stomach Mucosa	stomach
39	chr10:1108600-1144600	Weak transcription	Fetal Heart	heart
40	chr10:1108800-1118000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr10:1109000-1118000	Weak transcription	Left Ventricle	heart
42	chr10:1109800-1114800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr10:1109800-1114800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr10:1109800-1116800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr10:1109800-1116800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr10:1109800-1116800	Weak transcription	Right Ventricle	heart
47	chr10:1109800-1116800	Weak transcription	NHLF	lung
48	chr10:1109800-1118000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr10:1109800-1118000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr10:1109800-1118000	Weak transcription	Fetal Intestine Small	intestine

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