Variant report

Variant	rs61861912
Chromosome Location	chr10:99166761-99166762
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:99165865..99167587-chr10:99186226..99189247,3	MCF-7	breast:
2	chr10:99165782..99177128-chr10:99179856..99189832,30	MCF-7	breast:
3	chr10:99166608..99167808-chr10:99223063..99223942,3	K562	blood:
4	chr10:99165638..99168564-chr10:99206419..99208887,2	K562	blood:
5	chr10:99159230..99162370-chr10:99166178..99169290,4	K562	blood:
6	chr10:99163654..99167601-chr10:99201565..99206372,5	MCF-7	breast:
7	chr10:99166045..99168504-chr10:99170322..99173005,2	K562	blood:
8	chr10:99165495..99167483-chr10:99187813..99189704,2	K562	blood:
9	chr10:99164883..99168740-chr10:99185841..99188732,4	K562	blood:
10	chr10:99166657..99167578-chr10:99223483..99224439,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000155229	Chromatin interaction
ENSG00000171314	Chromatin interaction
ENSG00000052749	Chromatin interaction
ENSG00000200737	Chromatin interaction
ENSG00000171311	Chromatin interaction
ENSG00000224474	Chromatin interaction
ENSG00000171307	Chromatin interaction
ENSG00000231970	Chromatin interaction

Extended variants
information (count: 113 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10444013	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10444014	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10444016	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1048442	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10786336	0.84[EUR][1000 genomes]
rs10786337	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10786338	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10786339	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10786340	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10786341	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10786342	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10786343	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10786344	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10786345	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10786346	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10786347	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10882903	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10882904	0.81[EUR][1000 genomes]
rs10882907	0.82[EUR][1000 genomes]
rs10882908	0.84[EUR][1000 genomes]
rs10882909	0.86[EUR][1000 genomes]
rs10882910	0.86[EUR][1000 genomes]
rs10882911	0.86[EUR][1000 genomes]
rs10882912	0.86[EUR][1000 genomes]
rs10882913	0.86[EUR][1000 genomes]
rs10882914	0.86[EUR][1000 genomes]
rs10882915	0.86[EUR][1000 genomes]
rs10882916	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10882917	0.80[EUR][1000 genomes]
rs10882922	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10882924	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10882926	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10882929	0.80[AMR][1000 genomes]
rs10882930	0.80[AMR][1000 genomes]
rs10882931	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10882934	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11189165	0.82[EUR][1000 genomes]
rs11189168	0.82[EUR][1000 genomes]
rs11189172	0.85[EUR][1000 genomes]
rs11189174	0.86[EUR][1000 genomes]
rs11189175	0.86[EUR][1000 genomes]
rs11189177	0.86[EUR][1000 genomes]
rs11189178	0.86[EUR][1000 genomes]
rs11189179	0.86[EUR][1000 genomes]
rs11189180	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11189181	0.81[EUR][1000 genomes]
rs11189182	0.84[EUR][1000 genomes]
rs11189183	0.84[EUR][1000 genomes]
rs11189191	0.87[EUR][1000 genomes]
rs11189192	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11189195	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11189196	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11189197	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11189200	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11189204	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11189206	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11189208	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11812223	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11814021	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11817852	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11817875	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12258560	0.85[EUR][1000 genomes]
rs12266723	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12359257	0.85[EUR][1000 genomes]
rs1537645	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1537646	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17112674	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17112676	0.82[EUR][1000 genomes]
rs1810983	0.82[EUR][1000 genomes]
rs2275089	0.86[EUR][1000 genomes]
rs2275090	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2297667	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2297668	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2297988	0.81[EUR][1000 genomes]
rs3737194	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3814553	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3818787	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3818908	0.84[EUR][1000 genomes]
rs4635018	0.86[EUR][1000 genomes]
rs60237341	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61863815	0.82[EUR][1000 genomes]
rs61863819	0.85[EUR][1000 genomes]
rs6584126	0.86[EUR][1000 genomes]
rs6584127	0.86[EUR][1000 genomes]
rs6584128	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7074511	0.86[EUR][1000 genomes]
rs7078004	0.86[EUR][1000 genomes]
rs7078782	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7084654	0.86[EUR][1000 genomes]
rs7088410	0.86[EUR][1000 genomes]
rs7092350	0.86[EUR][1000 genomes]
rs7092499	0.86[EUR][1000 genomes]
rs7096801	0.86[EUR][1000 genomes]
rs7895695	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7896100	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7903562	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7909345	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7922512	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7923385	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs869967	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs954149	0.82[EUR][1000 genomes]
rs9787426	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9787454	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9887991	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9888026	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9888116	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9888117	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv467438	chr10:99126249-99173870	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv552024	chr10:99126249-99173870	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv467440	chr10:99134784-99204791	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv552025	chr10:99134784-99204791	Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs61861912	RRP12	cis	Heart Left Ventricle	GTEx
rs61861912	RRP12	cis	Muscle Skeletal	GTEx

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99161200-99167000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:99161200-99167000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:99161400-99167000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:99161400-99167000	Weak transcription	Liver	Liver
5	chr10:99161600-99166800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:99161600-99166800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr10:99161600-99166800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr10:99161600-99166800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr10:99161600-99166800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr10:99161600-99166800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr10:99161600-99166800	Weak transcription	Fetal Intestine Small	intestine
12	chr10:99161600-99167000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr10:99161600-99167000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr10:99161600-99167000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr10:99161600-99167000	Weak transcription	Brain Substantia Nigra	brain
16	chr10:99161600-99167000	Weak transcription	Fetal Muscle Leg	muscle
17	chr10:99161600-99167000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr10:99161600-99167000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr10:99161600-99167000	Weak transcription	Dnd41	blood
20	chr10:99161600-99167200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:99161600-99167200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr10:99161600-99167200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr10:99161600-99167200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr10:99161600-99167200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr10:99161600-99167200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr10:99161600-99167200	Weak transcription	Colon Smooth Muscle	Colon
27	chr10:99161600-99167200	Weak transcription	Fetal Heart	heart
28	chr10:99161600-99167200	Weak transcription	Left Ventricle	heart
29	chr10:99161600-99167200	Weak transcription	Right Atrium	heart
30	chr10:99161600-99167200	Weak transcription	Spleen	Spleen
31	chr10:99161600-99178800	Weak transcription	Fetal Stomach	stomach
32	chr10:99161600-99185200	Weak transcription	Pancreas	Pancrea
33	chr10:99161800-99166800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr10:99161800-99167000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr10:99161800-99167000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr10:99161800-99167200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr10:99161800-99167200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr10:99164200-99170200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr10:99164800-99167600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr10:99165000-99169400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr10:99165400-99166800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr10:99165400-99168000	Enhancers	Primary hematopoietic stem cells	blood
43	chr10:99165400-99168800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr10:99165800-99166800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr10:99165800-99167000	Enhancers	K562	blood
46	chr10:99165800-99169000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr10:99166000-99167000	Enhancers	Hela-S3	cervix
48	chr10:99166000-99167600	Enhancers	Primary B cells from peripheral blood	blood
49	chr10:99166000-99168600	Enhancers	NHEK	skin
50	chr10:99166000-99168800	Enhancers	HMEC	breast

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