Variant report

Variant	rs11143456
Chromosome Location	chr9:71320168-71320169
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:71319671-71320919	HepG2	liver:	n/a	n/a
2	MAZ	chr9:71319856-71321145	GM12878	blood:	n/a	n/a
3	GTF2F1	chr9:71319989-71320300	K562	blood:	n/a	n/a
4	EGR1	chr9:71319918-71320182	K562	blood:	n/a	chr9:71320104-71320114 chr9:71320063-71320077
5	CEBPB	chr9:71319901-71320191	K562	blood:	n/a	n/a
6	POLR2A	chr9:71319306-71322669	GM12891	blood:	n/a	n/a
7	POLR2A	chr9:71319726-71320490	K562	blood:	n/a	n/a
8	CEBPB	chr9:71319953-71320174	H1-hESC	embryonic stem cell:	n/a	n/a
9	TBP	chr9:71319898-71320317	HepG2	liver:	n/a	n/a
10	RELA	chr9:71319785-71322303	GM19193	blood:	n/a	n/a
11	POLR2A	chr9:71319782-71320507	HL-60	blood:	n/a	n/a
12	YY1	chr9:71319841-71320451	GM12878	blood:	n/a	chr9:71320101-71320115 chr9:71320107-71320121 chr9:71320126-71320140 chr9:71320140-71320154 chr9:71320122-71320133 chr9:71320427-71320436 chr9:71320131-71320142 chr9:71319926-71319940
13	CHD2	chr9:71319857-71320368	GM12878	blood:	n/a	n/a
14	POLR2A	chr9:71319865-71320494	HepG2	liver:	n/a	n/a
15	POLR2A	chr9:71319792-71320493	K562	blood:	n/a	n/a
16	CTCF	chr9:71320040-71320190	GM12872	blood:	n/a	n/a
17	POLR2A	chr9:71319744-71322168	GM12892	blood:	n/a	n/a
18	RCOR1	chr9:71318641-71321278	K562	blood:	n/a	n/a
19	POLR2A	chr9:71319421-71322168	GM19193	blood:	n/a	n/a
20	TAF1	chr9:71319905-71320306	GM12891	blood:	n/a	n/a
21	CTBP2	chr9:71319407-71320373	H1-hESC	embryonic stem cell:	n/a	n/a
22	BCL3	chr9:71319918-71320321	GM12878	blood:	n/a	chr9:71320125-71320138 chr9:71320133-71320146 chr9:71319925-71319938 chr9:71319926-71319939 chr9:71320127-71320140 chr9:71320211-71320224 chr9:71320141-71320154 chr9:71320265-71320278 chr9:71319930-71319939
23	CTCF	chr9:71319557-71320276	GM12878	blood:	n/a	chr9:71319640-71319648
24	TBP	chr9:71319480-71320435	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr9:71319451-71321039	K562	blood:	n/a	n/a
26	HCFC1	chr9:71319614-71320394	K562	blood:	n/a	n/a
27	POLR2A	chr9:71319647-71320673	H1-hESC	embryonic stem cell:	n/a	n/a
28	YY1	chr9:71319650-71320480	GM12892	blood:	n/a	chr9:71320101-71320115 chr9:71320107-71320121 chr9:71320126-71320140 chr9:71320140-71320154 chr9:71320122-71320133 chr9:71320427-71320436 chr9:71320131-71320142 chr9:71319926-71319940
29	EP300	chr9:71319855-71320355	K562	blood:	n/a	chr9:71320296-71320312 chr9:71320292-71320308 chr9:71320265-71320281 chr9:71320215-71320224
30	HEY1	chr9:71319810-71320460	HepG2	liver:	n/a	chr9:71320210-71320225 chr9:71320219-71320234 chr9:71320421-71320436 chr9:71320201-71320216 chr9:71320130-71320145 chr9:71320141-71320156 chr9:71320132-71320147 chr9:71320135-71320150
31	POLR2A	chr9:71319695-71322207	GM12892	blood:	n/a	n/a
32	POLR2A	chr9:71319555-71320349	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr9:71319659-71320518	GM12891	blood:	n/a	n/a
34	POLR2A	chr9:71319898-71321137	HepG2	liver:	n/a	n/a
35	HEY1	chr9:71319753-71320484	K562	blood:	n/a	chr9:71320210-71320225 chr9:71320219-71320234 chr9:71320421-71320436 chr9:71320201-71320216 chr9:71320130-71320145 chr9:71320141-71320156 chr9:71320132-71320147 chr9:71320135-71320150
36	MYC	chr9:71319765-71320983	K562	blood:	n/a	n/a
37	MAX	chr9:71319427-71320249	H1-hESC	embryonic stem cell:	n/a	n/a
38	TAF1	chr9:71319945-71320247	GM12891	blood:	n/a	n/a
39	CTCF	chr9:71319672-71320263	K562	blood:	n/a	n/a
40	POLR2A	chr9:71319876-71320372	K562	blood:	n/a	n/a
41	PAX5	chr9:71319587-71320491	GM12892	blood:	n/a	chr9:71320397-71320406 chr9:71320426-71320435
42	POLR2A	chr9:71319677-71320506	HepG2	liver:	n/a	n/a
43	ZNF143	chr9:71319651-71320194	H1-hESC	embryonic stem cell:	n/a	n/a
44	PML	chr9:71319809-71320468	K562	blood:	n/a	n/a
45	MYC	chr9:71319644-71321216	K562	blood:	n/a	n/a
46	EP300	chr9:71319611-71320388	HepG2	liver:	n/a	chr9:71320296-71320312 chr9:71320292-71320308 chr9:71320265-71320281 chr9:71320215-71320224
47	RFX5	chr9:71320094-71320363	HepG2	liver:	n/a	n/a
48	POLR2A	chr9:71319821-71320397	GM12878	blood:	n/a	n/a
49	TAF1	chr9:71319572-71320479	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr9:71320080-71320230	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:71319577..71321555-chr9:71393458..71395334,2	MCF-7	breast:
2	chr9:71208704..71211191-chr9:71318423..71320358,2	MCF-7	breast:
3	chr9:71318947..71321633-chr9:71353997..71355633,2	MCF-7	breast:
4	chr9:71318773..71321660-chr9:71357020..71360216,3	K562	blood:

Variant related genes	Relation type
PIP5K1B	TF binding region
ENSG00000187866	Chromatin interaction
ENSG00000107242	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1107108	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3812537	0.88[ASN][1000 genomes]
rs4570227	0.84[AMR][1000 genomes]
rs7023009	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026962	chr9:71130848-71357605	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv893414	chr9:71139378-71320732	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2757339	chr9:71291107-71353743	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2759693	chr9:71291107-71353743	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv2752385	chr9:71304465-71332240	Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71319000-71321800	Active TSS	Fetal Heart	heart
2	chr9:71319000-71322400	Active TSS	Fetal Intestine Large	intestine
3	chr9:71319200-71320800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr9:71319200-71321000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr9:71319200-71321600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr9:71319200-71321800	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr9:71319200-71322000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr9:71319200-71323400	Active TSS	Rectal Smooth Muscle	rectum
9	chr9:71319400-71320200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
10	chr9:71319400-71320600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr9:71319400-71320800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:71319400-71321000	Active TSS	Colon Smooth Muscle	Colon
13	chr9:71319400-71321200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr9:71319400-71321600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:71319400-71321600	Active TSS	Colonic Mucosa	Colon
16	chr9:71319400-71322000	Active TSS	Aorta	Aorta
17	chr9:71319400-71322400	Active TSS	Stomach Mucosa	stomach
18	chr9:71319600-71320600	Active TSS	H1 Cell Line	embryonic stem cell
19	chr9:71319600-71320600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr9:71319600-71320600	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr9:71319600-71320600	Active TSS	HepG2	liver
22	chr9:71319600-71320800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr9:71319600-71320800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:71319600-71320800	Active TSS	Fetal Brain Female	brain
25	chr9:71319600-71320800	Active TSS	Fetal Intestine Small	intestine
26	chr9:71319600-71321000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
27	chr9:71319600-71321000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
28	chr9:71319600-71321000	Active TSS	Brain Substantia Nigra	brain
29	chr9:71319600-71321000	Active TSS	Fetal Kidney	kidney
30	chr9:71319600-71321000	Bivalent/Poised TSS	NHEK	skin
31	chr9:71319600-71321200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
32	chr9:71319600-71321200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr9:71319600-71321200	Bivalent/Poised TSS	A549	lung
34	chr9:71319600-71321200	Bivalent/Poised TSS	HSMMtube	muscle
35	chr9:71319600-71321400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr9:71319600-71321400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:71319600-71321400	Active TSS	K562	blood
38	chr9:71319600-71321600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:71319600-71321600	Active TSS	Psoas Muscle	Psoas
40	chr9:71319600-71321800	Active TSS	Brain Angular Gyrus	brain
41	chr9:71319600-71322600	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr9:71319600-71323200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:71319800-71320200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr9:71319800-71320200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr9:71319800-71320400	Flanking Active TSS	Liver	Liver
46	chr9:71319800-71320400	Active TSS	Brain Germinal Matrix	brain
47	chr9:71319800-71320600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr9:71319800-71320600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr9:71319800-71320600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr9:71319800-71320600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle

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