Variant report

Variant	rs60142346
Chromosome Location	chr3:133524591-133524592
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:340)
CpG islands
(count:122)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr3:133524405-133525168	GM12891	blood:	n/a	n/a
2	POLR2A	chr3:133524431-133525304	GM12878	blood:	n/a	n/a
3	MYC	chr3:133524358-133525316	K562	blood:	n/a	chr3:133524452-133524461
4	RAD21	chr3:133524490-133525205	IMR90	lung:	n/a	chr3:133525006-133525020
5	ZNF143	chr3:133524306-133525134	H1-hESC	embryonic stem cell:	n/a	chr3:133524539-133524557 chr3:133524539-133524548 chr3:133524546-133524561 chr3:133524541-133524550
6	YY1	chr3:133524364-133524949	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr3:133524473-133525335	Hela-S3	cervix:	n/a	n/a
8	MAX	chr3:133524165-133525415	HCT-116	colon:	n/a	chr3:133524452-133524461
9	POLR2A	chr3:133524359-133525249	ProgFib	skin:	n/a	n/a
10	TCF3	chr3:133524584-133524964	GM12878	blood:	n/a	n/a
11	CTCF	chr3:133524376-133524833	K562	blood:	n/a	n/a
12	ELF1	chr3:133524407-133524834	K562	blood:	n/a	n/a
13	ZNF143	chr3:133524240-133525278	Hela-S3	cervix:	n/a	chr3:133524539-133524557 chr3:133524539-133524548 chr3:133525193-133525203 chr3:133524546-133524561 chr3:133524541-133524550
14	POLR2A	chr3:133524398-133525346	GM12892	blood:	n/a	n/a
15	ELF1	chr3:133524316-133525382	MCF-7	breast:	n/a	n/a
16	POLR2A	chr3:133524453-133524836	HepG2	liver:	n/a	n/a
17	ELF1	chr3:133524360-133525414	MCF-7	breast:	n/a	n/a
18	TAF1	chr3:133524551-133524777	GM12892	blood:	n/a	n/a
19	CHD2	chr3:133524328-133525262	H1-hESC	embryonic stem cell:	n/a	chr3:133524625-133524635 chr3:133524878-133524888
20	POLR2A	chr3:133524404-133525305	GM18526	blood:	n/a	n/a
21	GTF2B	chr3:133524499-133524751	K562	blood:	n/a	n/a
22	CHD2	chr3:133524349-133524815	HepG2	liver:	n/a	chr3:133524625-133524635
23	CREB1	chr3:133524336-133525316	K562	blood:	n/a	n/a
24	REST	chr3:133524496-133524853	HepG2	liver:	n/a	n/a
25	FOXP2	chr3:133524442-133524880	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr3:133524449-133525506	GM19099	blood:	n/a	n/a
27	POLR2A	chr3:133524418-133525284	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr3:133524454-133525335	HepG2	liver:	n/a	n/a
29	STAT3	chr3:133524585-133524657	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr3:133524543-133524844	A549	lung:	n/a	n/a
31	TAF1	chr3:133524489-133525014	A549	lung:	n/a	n/a
32	CEBPB	chr3:133524264-133525561	Hela-S3	cervix:	n/a	n/a
33	TBP	chr3:133524417-133525202	K562	blood:	n/a	n/a
34	POLR2A	chr3:133524465-133525274	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr3:133524444-133525353	GM18505	blood:	n/a	n/a
36	ELK1	chr3:133524464-133525170	Hela-S3	cervix:	n/a	n/a
37	JUND	chr3:133524512-133524922	A549	lung:	n/a	chr3:133524887-133524901
38	POLR2A	chr3:133524482-133525257	GM12878	blood:	n/a	n/a
39	CREB1	chr3:133524446-133525096	A549	lung:	n/a	n/a
40	MAZ	chr3:133524453-133524769	HepG2	liver:	n/a	n/a
41	MAFK	chr3:133524404-133524845	K562	blood:	n/a	n/a
42	STAT3	chr3:133524264-133524605	MCF10A-Er-Src	breast:	n/a	n/a
43	SIN3AK20	chr3:133524461-133525360	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr3:133524474-133525280	GM10847	blood:	n/a	n/a
45	TAF1	chr3:133524505-133525278	H1-hESC	embryonic stem cell:	n/a	n/a
46	E2F4	chr3:133524356-133525267	MCF10A-Er-Src	breast:	n/a	chr3:133524631-133524640
47	TAF1	chr3:133524485-133524919	HepG2	liver:	n/a	n/a
48	ZEB1	chr3:133524406-133524915	GM12878	blood:	n/a	n/a
49	MAFK	chr3:133524268-133524891	Hela-S3	cervix:	n/a	n/a
50	HEY1	chr3:133524501-133524834	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:133524569-133524619	MCF10A-Er-Src	breast:	n/a
2	chr3:133524569-133524619	GM06990	blood:	n/a
3	chr3:133524569-133524619	SK-N-SH	brain:	n/a
4	chr3:133524572-133524622	AG09309	skin:	n/a
5	chr3:133524569-133524619	HRE	kidney:	n/a
6	chr3:133524569-133524619	GM12878	blood:	n/a
7	chr3:133524569-133524619	HEK293	kidney:	embryo
8	chr3:133524569-133524619	HCM	heart:	n/a
9	chr3:133524569-133524619	ProgFib	skin:	n/a
10	chr3:133524572-133524622	BJ	skin:	n/a
11	chr3:133524572-133524622	HAEpiC	amniotic membrane:	n/a
12	chr3:133524572-133524622	LNCaP	prostate:	n/a
13	chr3:133524569-133524619	HCT-116	colon:	n/a
14	chr3:133524569-133524619	Hela-S3	cervix:	n/a
15	chr3:133524572-133524622	GM12891	blood:	n/a
16	chr3:133524572-133524622	HL-60	blood:	n/a
17	chr3:133524572-133524622	NHDF-neo	bronchial:	n/a
18	chr3:133524569-133524619	AG09309	skin:	n/a
19	chr3:133524569-133524619	A549	lung:	n/a
20	chr3:133524569-133524619	LNCaP	prostate:	n/a
21	chr3:133524569-133524619	T-47D	breast:	n/a
22	chr3:133524572-133524622	GM12892	blood:	n/a
23	chr3:133524569-133524619	HPAEpiC	pulmonary alveolar:	n/a
24	chr3:133524572-133524622	HRE	kidney:	n/a
25	chr3:133524572-133524622	T-47D	breast:	n/a
26	chr3:133524572-133524622	Hela-S3	cervix:	n/a
27	chr3:133524572-133524622	H1-hESC	embryonic stem cell:	embryo
28	chr3:133524569-133524619	AG09319	gingival:	n/a
29	chr3:133524572-133524622	PANC-1	pancreas:	n/a
30	chr3:133524572-133524622	ECC-1	luminal epithelium:	n/a
31	chr3:133524569-133524619	PANC-1	pancreas:	n/a
32	chr3:133524572-133524622	HCPEpiC	choroid plexus:	n/a
33	chr3:133524572-133524622	NH-A	brain:	n/a
34	chr3:133524572-133524622	U87	brain:	n/a
35	chr3:133524569-133524619	NB4	blood:	n/a
36	chr3:133524572-133524622	AG04450	lung:	fetal
37	chr3:133524569-133524619	GM12891	blood:	n/a
38	chr3:133524569-133524619	NT2-D1	testis:	n/a
39	chr3:133524572-133524622	HCM	heart:	n/a
40	chr3:133524569-133524619	K562	blood:	n/a
41	chr3:133524569-133524619	GM12892	blood:	n/a
42	chr3:133524572-133524622	PrEC	prostate:	n/a
43	chr3:133524569-133524619	AG04450	lung:	fetal
44	chr3:133524572-133524622	Hepatocyte	liver:	n/a
45	chr3:133524569-133524619	HCF	heart:	n/a
46	chr3:133524572-133524622	NB4	blood:	n/a
47	chr3:133524569-133524619	HNPCEpiC	eye:	n/a
48	chr3:133524569-133524619	HAEpiC	amniotic membrane:	n/a
49	chr3:133524572-133524622	AoSMC	blood vessel:	n/a
50	chr3:133524569-133524619	RPTEC	kidney:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:133380350..133382601-chr3:133523415..133526726,4	K562	blood:
2	chr3:133522634..133526763-chr3:133529104..133532905,8	K562	blood:
3	chr3:133523328..133525267-chr3:133529249..133532239,3	MCF-7	breast:
4	chr3:133523642..133526680-chr3:133527233..133530883,4	K562	blood:
5	chr3:133379614..133382648-chr3:133523517..133526970,4	MCF-7	breast:
6	chr3:133378019..133382399-chr3:133522860..133528810,6	K562	blood:
7	chr3:133523551..133526872-chr3:133527016..133531055,8	MCF-7	breast:

No data

Variant related genes	Relation type
SRPRB	TF binding region
SRPRB	CpG island
ENSG00000242337	Chromatin interaction
ENSG00000144867	Chromatin interaction
ENSG00000163781	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1534165	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73217233	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877506	chr3:133423473-133569777	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv4018	chr3:133485867-133530668	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60142346	SRPRB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133523800-133525200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
2	chr3:133523800-133525200	Active TSS	Cortex derived primary cultured neurospheres	brain
3	chr3:133523800-133525600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:133523800-133526000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:133523800-133526800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr3:133524000-133524600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:133524000-133524600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:133524000-133524600	Flanking Active TSS	Dnd41	blood
9	chr3:133524000-133524600	Flanking Active TSS	HMEC	breast
10	chr3:133524000-133525200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr3:133524000-133525200	Active TSS	Brain Substantia Nigra	brain
12	chr3:133524000-133525400	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr3:133524000-133525400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:133524000-133525400	Active TSS	Brain Cingulate Gyrus	brain
15	chr3:133524000-133525400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr3:133524000-133525400	Active TSS	Rectal Smooth Muscle	rectum
17	chr3:133524000-133525400	Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr3:133524000-133525400	Active TSS	Hela-S3	cervix
19	chr3:133524000-133525600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr3:133524000-133525600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr3:133524000-133525800	Active TSS	Colon Smooth Muscle	Colon
22	chr3:133524000-133525800	Active TSS	A549	lung
23	chr3:133524200-133524600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr3:133524200-133524600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr3:133524200-133524600	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr3:133524200-133524600	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr3:133524200-133524600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:133524200-133524600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr3:133524200-133524600	Flanking Active TSS	Liver	Liver
30	chr3:133524200-133524600	Flanking Active TSS	Placenta	Placenta
31	chr3:133524200-133524600	Flanking Active TSS	Fetal Thymus	thymus
32	chr3:133524200-133524600	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr3:133524200-133524600	Enhancers	Small Intestine	intestine
34	chr3:133524200-133524600	Flanking Active TSS	Thymus	Thymus
35	chr3:133524200-133524600	Flanking Active TSS	K562	blood
36	chr3:133524200-133524600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr3:133524200-133524600	Flanking Active TSS	NH-A	brain
38	chr3:133524200-133525000	Active TSS	Placenta Amnion	Placenta Amnion
39	chr3:133524200-133525200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:133524200-133525200	Active TSS	Primary T cells from cord blood	blood
41	chr3:133524200-133525200	Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr3:133524200-133525200	Active TSS	Spleen	Spleen
43	chr3:133524200-133525400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:133524200-133525400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:133524200-133525400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr3:133524200-133525400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr3:133524200-133525400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:133524200-133525400	Active TSS	Esophagus	oesophagus
49	chr3:133524200-133525400	Active TSS	Fetal Brain Male	brain
50	chr3:133524200-133525600	Active TSS	H9 Cell Line	embryonic stem cell

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