Variant report

Variant	rs10215245
Chromosome Location	chr7:140711717-140711718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr7:140711261-140712680	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr7:140711400-140712462	A549	lung:	n/a	n/a
3	ZNF384	chr7:140711701-140712716	GM12878	blood:	n/a	n/a
4	CTCF	chr7:140711689-140712521	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:140711703..140712528-chr7:140919798..140921129,4	MCF-7	breast:
2	chr7:140395386..140400852-chr7:140710628..140716984,11	MCF-7	breast:
3	chr7:140510459..140511610-chr7:140711584..140712563,9	MCF-7	breast:
4	chr7:140510566..140511550-chr7:140711601..140712568,6	K562	blood:
5	chr7:140217150..140218325-chr7:140711569..140712510,4	K562	blood:
6	chr7:140510400..140511598-chr7:140711292..140712616,8	MCF-7	breast:
7	chr7:140701629..140704089-chr7:140709964..140711981,2	MCF-7	breast:
8	chr7:140375224..140375862-chr7:140711603..140712374,2	K562	blood:
9	chr7:140425877..140426809-chr7:140711477..140712513,4	MCF-7	breast:
10	chr7:140425846..140426811-chr7:140711662..140712678,3	MCF-7	breast:

No data

Variant related genes	Relation type
MRPS33	TF binding region
ENSG00000240889	Chromatin interaction
ENSG00000090266	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10255167	0.84[EUR][1000 genomes]
rs10268118	0.83[EUR][1000 genomes]
rs1044927	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1089264	0.91[ASN][1000 genomes]
rs10952364	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12538296	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12703284	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13234490	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13236704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1476816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1533933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1860720	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1961288	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2079978	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2688430	0.91[ASN][1000 genomes]
rs3852286	0.84[EUR][1000 genomes]
rs3864527	0.84[EUR][1000 genomes]
rs38715	0.82[ASN][1000 genomes]
rs38717	0.82[ASN][1000 genomes]
rs38718	0.80[ASN][1000 genomes]
rs38720	0.82[ASN][1000 genomes]
rs38722	0.82[ASN][1000 genomes]
rs38723	0.82[ASN][1000 genomes]
rs38726	0.82[ASN][1000 genomes]
rs38730	0.89[ASN][1000 genomes]
rs38731	0.89[ASN][1000 genomes]
rs38734	0.91[ASN][1000 genomes]
rs38736	0.91[ASN][1000 genomes]
rs38739	0.93[ASN][1000 genomes]
rs38740	0.93[ASN][1000 genomes]
rs4726196	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4726225	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs488795	0.84[ASN][1000 genomes]
rs490810	0.87[ASN][1000 genomes]
rs512177	0.82[ASN][1000 genomes]
rs512509	0.84[ASN][1000 genomes]
rs528957	0.84[ASN][1000 genomes]
rs533441	0.82[ASN][1000 genomes]
rs544081	0.84[ASN][1000 genomes]
rs545121	0.82[ASN][1000 genomes]
rs557962	0.82[ASN][1000 genomes]
rs569584	0.84[ASN][1000 genomes]
rs579518	0.82[ASN][1000 genomes]
rs6464217	0.96[AFR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6464260	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6464284	0.87[ASN][1000 genomes]
rs6662	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6967214	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6971577	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7792447	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7801518	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs801117	0.91[ASN][1000 genomes]
rs801121	0.91[ASN][1000 genomes]
rs801127	0.91[ASN][1000 genomes]
rs801155	0.84[ASN][1000 genomes]
rs801159	0.82[ASN][1000 genomes]
rs9274	0.82[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	nsv1017980	chr7:140601863-140721368	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1030195	chr7:140615828-140746345	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1026448	chr7:140636599-140716829	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10215245	MRPS33	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140698600-140713000	Weak transcription	Psoas Muscle	Psoas
2	chr7:140699600-140713800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:140701400-140713400	Weak transcription	NHLF	lung
4	chr7:140702800-140713200	Weak transcription	HSMMtube	muscle
5	chr7:140703200-140713800	Weak transcription	Stomach Mucosa	stomach
6	chr7:140703400-140713800	Weak transcription	Gastric	stomach
7	chr7:140703600-140713800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:140703600-140713800	Weak transcription	Lung	lung
9	chr7:140704000-140713800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:140705000-140712200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:140705000-140713600	Weak transcription	NH-A	brain
12	chr7:140705200-140713200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:140705200-140713200	Weak transcription	Brain Germinal Matrix	brain
14	chr7:140705200-140713800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:140705400-140713000	Weak transcription	Dnd41	blood
16	chr7:140705400-140713600	Weak transcription	HUVEC	blood vessel
17	chr7:140706800-140712400	Weak transcription	NHDF-Ad	bronchial
18	chr7:140706800-140713600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:140707200-140713200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:140707200-140713800	Weak transcription	Small Intestine	intestine
21	chr7:140707400-140713600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:140707400-140713600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr7:140707600-140713400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:140707600-140713600	Weak transcription	Fetal Brain Male	brain
25	chr7:140707600-140713800	Weak transcription	Aorta	Aorta
26	chr7:140707600-140713800	Weak transcription	Spleen	Spleen
27	chr7:140707800-140712200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:140707800-140713000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:140707800-140713200	Weak transcription	Thymus	Thymus
30	chr7:140707800-140713800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr7:140707800-140713800	Weak transcription	Esophagus	oesophagus
32	chr7:140707800-140713800	Weak transcription	Pancreas	Pancrea
33	chr7:140707800-140714000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:140708000-140712600	Weak transcription	A549	lung
35	chr7:140708000-140713800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:140708200-140713400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:140708400-140713200	Weak transcription	Brain Substantia Nigra	brain
38	chr7:140708400-140713600	Weak transcription	Right Ventricle	heart
39	chr7:140708400-140713800	Weak transcription	Ovary	ovary
40	chr7:140708600-140713400	Weak transcription	Primary B cells from cord blood	blood
41	chr7:140709600-140711800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:140709600-140712200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:140709800-140713600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr7:140710000-140712200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:140710000-140712200	Weak transcription	Brain Hippocampus Middle	brain
46	chr7:140710000-140713200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr7:140710000-140713200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr7:140710400-140711800	Weak transcription	Osteobl	bone
49	chr7:140710400-140712200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:140710400-140712400	Weak transcription	Brain Cingulate Gyrus	brain

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