Variant report

Variant	rs10992251
Chromosome Location	chr9:94903550-94903551
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr9:94902467-94903909	SK-N-SH	brain:	n/a	n/a
2	RAD21	chr9:94903389-94903880	IMR90	lung:	n/a	n/a
3	CTCF	chr9:94903540-94903690	GM12868	blood:	n/a	n/a
4	NRF1	chr9:94903455-94904371	SK-N-SH	brain:	n/a	chr9:94904230-94904239
5	GABPA	chr9:94903449-94903828	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr9:94903499-94904075	MCF-7	breast:	n/a	n/a
7	MXI1	chr9:94902085-94904234	IMR90	lung:	n/a	n/a
8	PAX5	chr9:94903539-94903825	GM12892	blood:	n/a	n/a
9	HA-E2F1	chr9:94903316-94904114	MCF-7	breast:	n/a	n/a
10	POLR2A	chr9:94903529-94903575	HUVEC	blood vessel:	n/a	n/a
11	USF1	chr9:94903525-94903821	H1-hESC	embryonic stem cell:	n/a	n/a
12	ZNF143	chr9:94903540-94903804	H1-hESC	embryonic stem cell:	n/a	n/a
13	RAD21	chr9:94903506-94903816	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr9:94903492-94903901	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr9:94903520-94903670	HA-sp	spinal cord:	n/a	n/a
16	MAZ	chr9:94903318-94904148	IMR90	lung:	n/a	n/a
17	POLR2A	chr9:94903525-94903844	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr9:94903520-94903670	AG04450	lung:	n/a	n/a
19	MAX	chr9:94903507-94903932	ECC-1	luminal epithelium:	n/a	n/a
20	CTCF	chr9:94903502-94903880	H1-hESC	embryonic stem cell:	n/a	n/a
21	SIN3A	chr9:94902559-94903727	H1-hESC	embryonic stem cell:	n/a	chr9:94902732-94902741
22	USF2	chr9:94903534-94903623	H1-hESC	embryonic stem cell:	n/a	n/a
23	SMC3	chr9:94902439-94903811	SK-N-SH	brain:	n/a	chr9:94902741-94902755 chr9:94902745-94902755
24	TBP	chr9:94903530-94903717	H1-hESC	embryonic stem cell:	n/a	n/a
25	ZBTB7A	chr9:94903513-94903642	K562	blood:	n/a	n/a
26	CTCF	chr9:94903522-94903870	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:94900325..94903739-chr9:94909399..94912070,4	MCF-7	breast:
2	chr9:94901685..94904988-chr9:95003695..95006795,3	MCF-7	breast:
3	chr9:94898906..94903668-chr9:95086648..95090271,5	MCF-7	breast:
4	chr9:94902223..94905302-chr9:94908199..94910430,4	MCF-7	breast:

No data

Variant related genes	Relation type
LINC00475	TF binding region
ENSG00000196305	Chromatin interaction
ENSG00000225511	Chromatin interaction
ENSG00000198000	Chromatin interaction
ENSG00000188312	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10992241	0.80[EUR][1000 genomes]
rs2274921	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35121804	0.81[EUR][1000 genomes]
rs35814773	0.81[EUR][1000 genomes]
rs3858095	0.96[CEU][hapmap]
rs3927571	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55667598	0.81[EUR][1000 genomes]
rs55801573	0.81[EUR][1000 genomes]
rs56319302	0.81[EUR][1000 genomes]
rs62564361	0.81[EUR][1000 genomes]
rs6479408	0.81[EUR][1000 genomes]
rs7024547	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7465866	0.81[EUR][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	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv969760	chr9:94877924-94966209	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv893572	chr9:94891778-94944778	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv972778	chr9:94902068-94908273	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94902200-94904200	Enhancers	Liver	Liver
2	chr9:94902600-94903600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
3	chr9:94902600-94903600	Bivalent Enhancer	Fetal Thymus	thymus
4	chr9:94902600-94903600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
5	chr9:94902800-94903600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
6	chr9:94902800-94903600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
7	chr9:94902800-94903800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
8	chr9:94902800-94903800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
9	chr9:94902800-94904000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:94902800-94904000	Enhancers	Primary hematopoietic stem cells	blood
11	chr9:94902800-94904000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
12	chr9:94902800-94904000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
13	chr9:94902800-94904000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
14	chr9:94902800-94904200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr9:94902800-94904200	Active TSS	Fetal Kidney	kidney
16	chr9:94902800-94904200	Enhancers	Lung	lung
17	chr9:94903000-94903600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr9:94903000-94903600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
19	chr9:94903000-94903600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
20	chr9:94903000-94903600	Flanking Active TSS	Right Atrium	heart
21	chr9:94903000-94903600	Flanking Active TSS	NHLF	lung
22	chr9:94903000-94903800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr9:94903000-94903800	Bivalent Enhancer	Fetal Heart	heart
24	chr9:94903000-94904000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:94903000-94904000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:94903000-94904000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
27	chr9:94903000-94904000	Bivalent Enhancer	Spleen	Spleen
28	chr9:94903000-94904800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr9:94903200-94903600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr9:94903200-94903600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:94903200-94903600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr9:94903200-94903600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
33	chr9:94903200-94903600	Flanking Active TSS	Placenta	Placenta
34	chr9:94903200-94903600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
35	chr9:94903200-94903600	Flanking Bivalent TSS/Enh	HepG2	liver
36	chr9:94903200-94903800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
37	chr9:94903200-94903800	Bivalent Enhancer	Stomach Mucosa	stomach
38	chr9:94903200-94904000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr9:94903200-94904000	Bivalent Enhancer	Primary B cells from cord blood	blood
40	chr9:94903200-94904000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
41	chr9:94903200-94904000	Flanking Active TSS	HMEC	breast
42	chr9:94903200-94904200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr9:94903200-94904200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr9:94903200-94904200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr9:94903200-94904200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr9:94903200-94904200	Enhancers	Gastric	stomach
47	chr9:94903400-94903600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
48	chr9:94903400-94903600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
49	chr9:94903400-94903600	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
50	chr9:94903400-94903600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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