Variant report

Variant	rs7918742
Chromosome Location	chr10:99125070-99125071
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:99123357..99125216-chr10:99127019..99128808,2	K562	blood:
2	chr10:99115899..99117497-chr10:99123854..99126044,2	K562	blood:
3	chr10:99124139..99126270-chr21:41756130..41757689,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000052749	Chromatin interaction

Extended variants
information (count: 143 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs10444014	0.83[EUR][1000 genomes]
rs10444016	0.81[EUR][1000 genomes]
rs1048442	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1048445	0.99[ASN][1000 genomes]
rs10786336	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10786337	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10786338	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10786339	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10786340	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10786341	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10786342	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10786343	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10786344	0.83[EUR][1000 genomes]
rs10786346	0.83[EUR][1000 genomes]
rs10786347	0.84[ASN][1000 genomes]
rs10882900	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10882903	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10882904	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10882907	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10882908	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10882909	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10882910	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10882911	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10882912	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10882913	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10882914	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10882915	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10882916	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10882917	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10882922	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10882924	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10882926	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10882929	0.83[ASN][1000 genomes]
rs10882930	0.83[ASN][1000 genomes]
rs10882931	0.83[EUR][1000 genomes]
rs10882934	0.81[EUR][1000 genomes]
rs11189144	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11189154	0.91[ASN][1000 genomes]
rs11189155	0.80[ASN][1000 genomes]
rs11189156	0.97[ASN][1000 genomes]
rs11189157	0.99[ASN][1000 genomes]
rs11189159	0.99[ASN][1000 genomes]
rs11189163	0.99[ASN][1000 genomes]
rs11189165	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11189167	0.99[ASN][1000 genomes]
rs11189168	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11189172	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11189173	0.94[ASN][1000 genomes]
rs11189174	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11189175	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11189177	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11189178	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11189179	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11189180	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11189181	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11189182	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11189183	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11189191	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11189192	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11189193	0.87[ASN][1000 genomes]
rs11189195	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11189196	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11189197	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11189200	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11189204	0.82[EUR][1000 genomes]
rs11189206	0.83[EUR][1000 genomes]
rs11189208	0.84[ASN][1000 genomes]
rs11812223	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11814021	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11817852	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11817875	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12218483	0.94[ASN][1000 genomes]
rs12258560	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12266723	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12359257	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12412478	0.94[ASN][1000 genomes]
rs12415424	0.99[ASN][1000 genomes]
rs1537645	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1537646	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1547328	0.98[ASN][1000 genomes]
rs17112674	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17112676	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17504745	0.97[ASN][1000 genomes]
rs1810983	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2275089	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2275090	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2275581	0.97[ASN][1000 genomes]
rs2275582	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2297667	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2297668	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2297988	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2861878	0.98[ASN][1000 genomes]
rs3737194	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3814553	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3818787	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3818908	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4268448	0.97[ASN][1000 genomes]
rs4635018	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60237341	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61861861	0.94[ASN][1000 genomes]
rs61861870	0.89[ASN][1000 genomes]
rs61863813	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61863815	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61863816	0.98[ASN][1000 genomes]
rs61863819	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6584126	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6584127	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6584128	0.82[EUR][1000 genomes]
rs7074511	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7078004	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7078782	0.82[EUR][1000 genomes]
rs7084654	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7088410	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7092350	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7092499	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7096801	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72838764	0.94[ASN][1000 genomes]
rs7895695	0.84[ASN][1000 genomes]
rs7896100	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7903562	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7903847	0.82[ASN][1000 genomes]
rs7905026	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7909345	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7917752	0.98[ASN][1000 genomes]
rs7918948	0.99[ASN][1000 genomes]
rs7921585	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7922512	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7923385	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7924254	0.98[ASN][1000 genomes]
rs869967	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs954149	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9787426	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9787454	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9887991	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9887994	0.87[ASN][1000 genomes]
rs9888026	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9888116	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9888117	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][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	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv831952	chr10:98998344-99145924	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv895914	chr10:99006083-99131676	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv467437	chr10:99115683-99167436	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv552023	chr10:99115683-99167436	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7918742	RRP12	cis	Muscle Skeletal	GTEx
rs7918742	RP11-452K12.7	cis	Whole Blood	GTEx
rs7918742	RRP12	cis	Whole Blood	GTEx
rs7918742	RRP12	cis	Heart Left Ventricle	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99107000-99131800	Weak transcription	Fetal Kidney	kidney
2	chr10:99107200-99129200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr10:99109000-99157800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr10:99109600-99157800	Strong transcription	Fetal Stomach	stomach
5	chr10:99110600-99132800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr10:99110800-99139800	Weak transcription	Stomach Mucosa	stomach
7	chr10:99111600-99141800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr10:99113200-99135400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:99113400-99158600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:99113800-99138800	Strong transcription	Fetal Intestine Small	intestine
11	chr10:99113800-99158800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr10:99113800-99159800	Weak transcription	Fetal Brain Male	brain
13	chr10:99114400-99135000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr10:99114600-99159000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr10:99115200-99127000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:99115200-99133800	Strong transcription	A549	lung
17	chr10:99115200-99134200	Strong transcription	Gastric	stomach
18	chr10:99115200-99136000	Strong transcription	Fetal Brain Female	brain
19	chr10:99115200-99136800	Strong transcription	Dnd41	blood
20	chr10:99115200-99145800	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr10:99115200-99146800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr10:99115400-99134200	Strong transcription	Pancreas	Pancrea
23	chr10:99115400-99157600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr10:99115600-99127000	Strong transcription	Ovary	ovary
25	chr10:99115600-99127600	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr10:99115600-99133800	Genic enhancers	Primary monocytes fromperipheralblood	blood
27	chr10:99115600-99134000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
28	chr10:99115600-99141600	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr10:99115600-99159800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr10:99115800-99125200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
31	chr10:99115800-99157800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr10:99115800-99157800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr10:99115800-99158600	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr10:99116000-99134000	Strong transcription	Brain Germinal Matrix	brain
35	chr10:99116000-99136800	Strong transcription	Primary T cells from cord blood	blood
36	chr10:99116400-99127200	Strong transcription	Left Ventricle	heart
37	chr10:99116600-99125400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr10:99116800-99125400	Weak transcription	HUVEC	blood vessel
39	chr10:99116800-99131000	Weak transcription	NHDF-Ad	bronchial
40	chr10:99116800-99135600	Strong transcription	Brain Anterior Caudate	brain
41	chr10:99117000-99126000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr10:99117000-99128400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr10:99117000-99133800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr10:99117000-99134200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr10:99117200-99126600	Weak transcription	Hela-S3	cervix
46	chr10:99117200-99128400	Weak transcription	Fetal Thymus	thymus
47	chr10:99117200-99132800	Weak transcription	Small Intestine	intestine
48	chr10:99117400-99138800	Strong transcription	Fetal Intestine Large	intestine
49	chr10:99118000-99133800	Strong transcription	HSMMtube	muscle
50	chr10:99118000-99159800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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