Variant report

Variant	rs10992297
Chromosome Location	chr9:95057462-95057463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:95054862-95057471	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr9:95057110-95057902	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr9:95048736-95059563	K562	blood:	n/a	n/a
4	POLR2A	chr9:95057433-95057685	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr9:95055662-95058756	K562	blood:	n/a	n/a
6	POLR2A	chr9:95055724-95058857	K562	blood:	n/a	n/a
7	POLR2A	chr9:95054894-95058821	PBDE	blood:	n/a	n/a
8	POLR2A	chr9:95055608-95057808	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr9:95057456-95057698	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr9:95055610-95058663	K562	blood:	n/a	n/a
11	POLR2A	chr9:95055569-95058088	HepG2	liver:	n/a	n/a
12	POLR2A	chr9:95057429-95057578	Hela-S3	cervix:	n/a	n/a
13	IRF1	chr9:95056979-95058802	K562	blood:	n/a	chr9:95057301-95057318 chr9:95057187-95057198
14	POLR2A	chr9:95055723-95057843	K562	blood:	n/a	n/a
15	CEBPD	chr9:95057461-95058090	K562	blood:	n/a	n/a
16	IRF1	chr9:95055734-95058491	K562	blood:	n/a	chr9:95055876-95055885 chr9:95056037-95056046 chr9:95057301-95057318 chr9:95057187-95057198
17	GATA1	chr9:95055523-95058697	PBDE	blood:	n/a	chr9:95056362-95056378
18	POLR2A	chr9:95057435-95057870	K562	blood:	n/a	n/a
19	POLR2A	chr9:95057160-95057972	K562	blood:	n/a	n/a
20	HEY1	chr9:95057349-95057763	K562	blood:	n/a	n/a
21	POLR2A	chr9:95057458-95057915	K562	blood:	n/a	n/a
22	TBP	chr9:95057316-95058498	K562	blood:	n/a	n/a
23	POLR2A	chr9:95057451-95057962	GM12892	blood:	n/a	n/a
24	POLR2A	chr9:95055719-95058815	K562	blood:	n/a	n/a
25	POLR2A	chr9:95055694-95058694	K562	blood:	n/a	n/a
26	POLR2A	chr9:95055653-95058756	GM12891	blood:	n/a	n/a
27	HEY1	chr9:95057228-95057892	K562	blood:	n/a	n/a
28	MYC	chr9:95055034-95058523	K562	blood:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:95056514..95058397-chr9:95095322..95098279,2	K562	blood:
2	chr9:95052267..95059743-chr9:95085805..95090654,23	MCF-7	breast:
3	chr9:94996019..94998973-chr9:95056165..95057730,2	MCF-7	breast:
4	chr9:95057188..95059914-chr9:95129364..95132359,2	K562	blood:
5	chr9:94899081..94901349-chr9:95056061..95058658,2	K562	blood:
6	chr9:95000607..95005891-chr9:95055882..95059515,6	K562	blood:
7	chr9:95056040..95058266-chr9:95225229..95227656,2	K562	blood:
8	chr20:55926188..55927994-chr9:95055648..95058175,2	MCF-7	breast:
9	chr9:94897363..94901349-chr9:95056061..95059787,4	K562	blood:
10	chr9:95051112..95065542-chr9:95079443..95091389,38	K562	blood:
11	chr9:95052930..95062724-chr9:95083607..95090664,16	MCF-7	breast:
12	chr9:95056921..95058643-chr9:95144243..95146810,2	K562	blood:
13	chr9:95056472..95058881-chr9:95084105..95085717,2	MCF-7	breast:
14	chr9:95041855..95050591-chr9:95053528..95058799,10	MCF-7	breast:
15	chr9:94923018..94924668-chr9:95056057..95058529,2	K562	blood:
16	chr9:95008547..95010215-chr9:95057171..95060144,2	K562	blood:
17	chr9:95056178..95058167-chr9:95374802..95377179,2	K562	blood:
18	chr9:94875730..94878651-chr9:95055011..95057658,2	K562	blood:
19	chr9:95003132..95004870-chr9:95057152..95059143,2	K562	blood:
20	chr9:95010979..95013884-chr9:95056312..95058270,2	K562	blood:

No data

Variant related genes	Relation type
IARS	TF binding region
SNORA84	TF binding region
ENSG00000101146	Chromatin interaction
ENSG00000198000	Chromatin interaction
ENSG00000188312	Chromatin interaction
ENSG00000090054	Chromatin interaction
ENSG00000196305	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10992290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10992299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16908147	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1045165	chr9:95057462-95138564	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95056200-95058800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr9:95056600-95057800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:95056600-95058000	Flanking Active TSS	Dnd41	blood
4	chr9:95056600-95058000	Flanking Active TSS	NHEK	skin
5	chr9:95056800-95059000	Enhancers	Primary hematopoietic stem cells	blood
6	chr9:95056800-95060400	Weak transcription	Aorta	Aorta
7	chr9:95056800-95086800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:95057000-95057600	Enhancers	Primary B cells from peripheral blood	blood
9	chr9:95057000-95057600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr9:95057000-95057600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr9:95057000-95058000	Enhancers	Stomach Mucosa	stomach
12	chr9:95057000-95058200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:95057000-95058200	Enhancers	Fetal Intestine Small	intestine
14	chr9:95057000-95058200	Weak transcription	Fetal Thymus	thymus
15	chr9:95057000-95058400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr9:95057000-95058400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr9:95057000-95058600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr9:95057000-95059000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr9:95057000-95059200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr9:95057000-95059200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr9:95057000-95059200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr9:95057000-95059200	Weak transcription	Fetal Intestine Large	intestine
23	chr9:95057000-95059400	Weak transcription	HSMM	muscle
24	chr9:95057000-95060000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr9:95057000-95060200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr9:95057000-95060200	Weak transcription	Fetal Muscle Leg	muscle
27	chr9:95057000-95060400	Weak transcription	Esophagus	oesophagus
28	chr9:95057000-95060400	Weak transcription	Left Ventricle	heart
29	chr9:95057000-95060800	Weak transcription	Colonic Mucosa	Colon
30	chr9:95057000-95061000	Weak transcription	Thymus	Thymus
31	chr9:95057000-95061400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:95057000-95061400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr9:95057000-95061400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr9:95057000-95061400	Weak transcription	Lung	lung
35	chr9:95057000-95061400	Weak transcription	Spleen	Spleen
36	chr9:95057000-95064800	Weak transcription	Ovary	ovary
37	chr9:95057000-95065000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr9:95057000-95070400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:95057000-95072600	Weak transcription	Gastric	stomach
40	chr9:95057000-95087000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr9:95057200-95057600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr9:95057200-95057600	Weak transcription	Pancreas	Pancrea
43	chr9:95057200-95057600	Weak transcription	Psoas Muscle	Psoas
44	chr9:95057200-95057800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr9:95057200-95057800	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr9:95057200-95057800	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr9:95057200-95058200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr9:95057200-95058200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr9:95057200-95058200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr9:95057200-95058200	Weak transcription	Stomach Smooth Muscle	stomach

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