Variant report

Variant	rs2930947
Chromosome Location	chr5:68512734-68512735
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 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	CTCF	chr5:68512677-68512745	K562	blood:	n/a	n/a
3	ZNF384	chr5:68512327-68513466	K562	blood:	n/a	n/a
4	CTCF	chr5:68512734-68512782	MCF-7	breast:	n/a	n/a
5	CTCF	chr5:68512689-68512754	MCF-7	breast:	n/a	n/a

No data

(count:12 , 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:
12	chr5:68512634..68513147-chr8:143781652..143782529,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
MRPS36	TF binding region
ENSG00000085231	Chromatin interaction
ENSG00000160886	Chromatin interaction
ENSG00000145740	Chromatin interaction
ENSG00000134058	Chromatin interaction
ENSG00000153044	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000134057	Chromatin interaction
ENSG00000238334	Chromatin interaction
ENSG00000183323	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10058852	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1976102	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2069429	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2930950	0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2932779	1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2932786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2932791	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2932792	0.94[ASN][1000 genomes]
rs2972359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2972360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2972362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2972363	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2972372	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2972375	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2972383	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2972389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3101719	1.00[ASN][1000 genomes]
rs6877441	1.00[ASN][1000 genomes]
rs7715704	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7716060	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7720249	0.89[ASN][1000 genomes]
rs7729799	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7734181	0.89[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

No data

Chromatin state (count:77 , 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	chr5:68486400-68513000	Weak transcription	Brain Germinal Matrix	brain
4	chr5:68486400-68513000	Weak transcription	Fetal Intestine Large	intestine
5	chr5:68486400-68513000	Weak transcription	Osteobl	bone
6	chr5:68490400-68513200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:68492400-68513000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:68492800-68513000	Weak transcription	Fetal Brain Female	brain
9	chr5:68494600-68513200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:68495400-68512800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:68495400-68513000	Weak transcription	HMEC	breast
12	chr5:68495400-68513400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:68495600-68512800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:68495600-68513000	Weak transcription	Fetal Lung	lung
15	chr5:68495600-68513200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:68495600-68513400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:68497800-68513200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr5:68498000-68512800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:68500600-68513000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr5:68501600-68513000	Weak transcription	Thymus	Thymus
21	chr5:68502800-68513600	Weak transcription	Small Intestine	intestine
22	chr5:68505400-68513000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:68506400-68513000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:68507000-68513000	Weak transcription	Fetal Stomach	stomach
25	chr5:68507000-68513400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:68507200-68513000	Weak transcription	Fetal Intestine Small	intestine
27	chr5:68507400-68512800	Weak transcription	Fetal Thymus	thymus
28	chr5:68507400-68513400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr5:68507600-68513000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:68507600-68513000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:68507600-68513000	Weak transcription	Fetal Muscle Leg	muscle
32	chr5:68507600-68513200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:68508000-68512800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:68508000-68513000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:68508000-68513200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr5:68508000-68513400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:68508000-68513400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:68508200-68512800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr5:68508200-68513000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:68508200-68513000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr5:68508200-68513000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr5:68509600-68513000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:68509600-68513600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:68509800-68513000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:68509800-68513000	Weak transcription	HSMM	muscle
46	chr5:68509800-68513000	Weak transcription	HSMMtube	muscle
47	chr5:68509800-68513400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:68510000-68512800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:68510000-68513000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:68510000-68513000	Weak transcription	Muscle Satellite Cultured Cells	--

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