Variant report

Variant	rs350123
Chromosome Location	chr5:68512535-68512536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF3C2	chr5:68512503-68513397	Hela-S3	cervix:	n/a	n/a
2	PAX5	chr5:68512262-68512593	GM12878	blood:	n/a	n/a
3	PAX5	chr5:68512332-68512614	GM12891	blood:	n/a	n/a
4	ZNF384	chr5:68512479-68512576	GM12878	blood:	n/a	n/a
5	ZNF384	chr5:68512327-68513466	K562	blood:	n/a	n/a
6	RUNX3	chr5:68512393-68512658	GM12878	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:68471354..68475028-chr5:68512445..68515750,4	K562	blood:
2	chr5:68484254..68487485-chr5:68512131..68515372,4	K562	blood:
3	chr5:68512355..68516868-chr5:68528060..68533660,10	K562	blood:
4	chr5:68388388..68391466-chr5:68512032..68515267,4	MCF-7	breast:
5	chr5:68462643..68465474-chr5:68512138..68513918,2	K562	blood:
6	chr5:68512209..68515422-chr5:68529314..68532677,7	MCF-7	breast:
7	chr5:68512355..68517480-chr5:68528060..68532261,10	K562	blood:
8	chr5:68389720..68391335-chr5:68512201..68513725,2	MCF-7	breast:
9	chr5:68512009..68514181-chr5:68664891..68666779,2	MCF-7	breast:
10	chr5:68483023..68488056-chr5:68511952..68517380,10	K562	blood:
11	chr5:68511964..68513541-chr5:68626471..68628825,2	MCF-7	breast:

No data

Variant related genes	Relation type
MRPS36	TF binding region
ENSG00000085231	Chromatin interaction
ENSG00000153044	Chromatin interaction
ENSG00000134058	Chromatin interaction
ENSG00000238334	Chromatin interaction
ENSG00000145740	Chromatin interaction
ENSG00000183323	Chromatin interaction
ENSG00000134057	Chromatin interaction
ENSG00000152942	Chromatin interaction

Extended variants
information (count: 133 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs100192	0.83[ASN][1000 genomes]
rs10063757	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10940209	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10940210	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10940212	0.84[ASN][1000 genomes]
rs10940216	0.84[ASN][1000 genomes]
rs11742461	0.81[ASN][1000 genomes]
rs11744596	0.85[ASN][1000 genomes]
rs11745578	0.81[ASN][1000 genomes]
rs11748974	0.91[ASN][1000 genomes]
rs12659146	0.85[ASN][1000 genomes]
rs13175606	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs151589	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs163442	0.83[ASN][1000 genomes]
rs163443	0.83[ASN][1000 genomes]
rs163444	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs164386	0.83[ASN][1000 genomes]
rs164388	0.83[ASN][1000 genomes]
rs164389	0.81[ASN][1000 genomes]
rs164390	0.83[ASN][1000 genomes]
rs164709	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs164715	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs164789	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1650779	0.92[ASN][1000 genomes]
rs171212	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs184747	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1976103	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2002825	0.85[ASN][1000 genomes]
rs2130757	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2171148	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2172056	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2242350	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2242351	0.85[ASN][1000 genomes]
rs2291519	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2291520	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2450230	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2450246	0.90[ASN][1000 genomes]
rs2637128	0.85[ASN][1000 genomes]
rs2637129	0.81[ASN][1000 genomes]
rs28576332	0.81[ASN][1000 genomes]
rs28602964	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28693971	0.81[ASN][1000 genomes]
rs28768211	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2930944	0.85[ASN][1000 genomes]
rs2930945	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2930946	0.85[ASN][1000 genomes]
rs2930949	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2930951	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2932767	0.90[ASN][1000 genomes]
rs2932770	0.85[ASN][1000 genomes]
rs2932771	0.85[ASN][1000 genomes]
rs2932772	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932773	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932774	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2932775	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932776	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932777	0.85[ASN][1000 genomes]
rs2932778	0.85[ASN][1000 genomes]
rs2932780	0.80[ASN][1000 genomes]
rs2932782	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972358	0.85[ASN][1000 genomes]
rs2972361	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972366	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972373	0.85[ASN][1000 genomes]
rs2972374	0.85[ASN][1000 genomes]
rs2972377	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2972378	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2972381	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972386	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972387	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972388	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972390	0.85[ASN][1000 genomes]
rs34845020	0.83[ASN][1000 genomes]
rs34893396	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34935424	0.87[ASN][1000 genomes]
rs350095	0.84[ASN][1000 genomes]
rs350099	0.83[ASN][1000 genomes]
rs350104	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs350106	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs350107	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs350109	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs350115	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs350116	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs350119	0.81[ASN][1000 genomes]
rs350120	0.83[ASN][1000 genomes]
rs350122	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs350124	0.85[ASN][1000 genomes]
rs350125	0.84[ASN][1000 genomes]
rs351424	0.93[ASN][1000 genomes]
rs352626	0.83[ASN][1000 genomes]
rs35308484	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs353656	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs375285	0.83[ASN][1000 genomes]
rs376768	0.83[ASN][1000 genomes]
rs379106	0.93[ASN][1000 genomes]
rs379434	0.83[ASN][1000 genomes]
rs386640	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs389938	0.83[ASN][1000 genomes]
rs3934528	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs395122	0.83[ASN][1000 genomes]
rs4077460	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs419902	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs426392	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4266362	0.92[ASN][1000 genomes]
rs4362903	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4421064	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs444305	0.84[ASN][1000 genomes]
rs4541612	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4629549	0.94[ASN][1000 genomes]
rs488498	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4976159	0.81[ASN][1000 genomes]
rs4976188	0.81[ASN][1000 genomes]
rs4976189	0.86[ASN][1000 genomes]
rs4976190	0.81[ASN][1000 genomes]
rs603029	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62373164	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6450026	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6450027	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6450029	0.87[ASN][1000 genomes]
rs648489	0.83[ASN][1000 genomes]
rs651076	0.91[ASN][1000 genomes]
rs676012	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs676879	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6866993	0.94[ASN][1000 genomes]
rs6873869	0.87[ASN][1000 genomes]
rs6876783	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs693725	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7719040	0.83[ASN][1000 genomes]
rs7733556	0.94[ASN][1000 genomes]
rs875459	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3378789	chr5:68438275-68540725	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs350123	CCDC125	cis	lung	GTEx
rs350123	MRPS36	Cis_1M	lymphoblastoid	RTeQTL
rs350123	GUSBP3	cis	Whole Blood	GTEx
rs350123	CCDC125	cis	Muscle Skeletal	GTEx
rs350123	CCDC125	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68486000-68513600	Weak transcription	Gastric	stomach
2	chr5:68486200-68512800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr5:68486400-68512600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr5:68486400-68513000	Weak transcription	Brain Germinal Matrix	brain
5	chr5:68486400-68513000	Weak transcription	Fetal Intestine Large	intestine
6	chr5:68486400-68513000	Weak transcription	Osteobl	bone
7	chr5:68490400-68513200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:68492400-68513000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr5:68492800-68513000	Weak transcription	Fetal Brain Female	brain
10	chr5:68494600-68513200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:68495400-68512800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:68495400-68513000	Weak transcription	HMEC	breast
13	chr5:68495400-68513400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:68495600-68512600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:68495600-68512800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:68495600-68513000	Weak transcription	Fetal Lung	lung
17	chr5:68495600-68513200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:68495600-68513400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:68497800-68513200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr5:68498000-68512800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:68500600-68513000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:68501600-68513000	Weak transcription	Thymus	Thymus
23	chr5:68502800-68513600	Weak transcription	Small Intestine	intestine
24	chr5:68505400-68513000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:68506400-68513000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:68507000-68513000	Weak transcription	Fetal Stomach	stomach
27	chr5:68507000-68513400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:68507200-68513000	Weak transcription	Fetal Intestine Small	intestine
29	chr5:68507400-68512800	Weak transcription	Fetal Thymus	thymus
30	chr5:68507400-68513400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr5:68507600-68513000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:68507600-68513000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:68507600-68513000	Weak transcription	Fetal Muscle Leg	muscle
34	chr5:68507600-68513200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:68508000-68512800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:68508000-68513000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:68508000-68513200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr5:68508000-68513400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:68508000-68513400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:68508200-68512800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr5:68508200-68513000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:68508200-68513000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr5:68508200-68513000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr5:68509600-68513000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:68509600-68513600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:68509800-68513000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:68509800-68513000	Weak transcription	HSMM	muscle
48	chr5:68509800-68513000	Weak transcription	HSMMtube	muscle
49	chr5:68509800-68513400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:68510000-68512600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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