Variant report

Variant	rs10992298
Chromosome Location	chr9:95059261-95059262
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:95048736-95059563	K562	blood:	n/a	n/a
2	POLR2A	chr9:95058112-95059367	HepG2	liver:	n/a	n/a
3	POLR2A	chr9:95059192-95059578	K562	blood:	n/a	n/a
4	POLR2A	chr9:95059177-95059302	Hela-S3	cervix:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:95052267..95059743-chr9:95085805..95090654,23	MCF-7	breast:
2	chr9:95057188..95059914-chr9:95129364..95132359,2	K562	blood:
3	chr9:95058975..95061785-chr9:95061896..95063797,3	MCF-7	breast:
4	chr9:95000607..95005891-chr9:95055882..95059515,6	K562	blood:
5	chr9:94897363..94901349-chr9:95056061..95059787,4	K562	blood:
6	chr9:95058426..95060967-chr9:95080944..95083546,2	MCF-7	breast:
7	chr9:95051112..95065542-chr9:95079443..95091389,38	K562	blood:
8	chr9:95052930..95062724-chr9:95083607..95090664,16	MCF-7	breast:
9	chr9:95036194..95038601-chr9:95058993..95061948,2	MCF-7	breast:
10	chr9:95008547..95010215-chr9:95057171..95060144,2	K562	blood:

No data

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

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2230404	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7863396	0.88[AFR][1000 genomes];1.00[AMR][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	chr9:95056800-95060400	Weak transcription	Aorta	Aorta
2	chr9:95056800-95086800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:95057000-95059400	Weak transcription	HSMM	muscle
4	chr9:95057000-95060000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr9:95057000-95060200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:95057000-95060200	Weak transcription	Fetal Muscle Leg	muscle
7	chr9:95057000-95060400	Weak transcription	Esophagus	oesophagus
8	chr9:95057000-95060400	Weak transcription	Left Ventricle	heart
9	chr9:95057000-95060800	Weak transcription	Colonic Mucosa	Colon
10	chr9:95057000-95061000	Weak transcription	Thymus	Thymus
11	chr9:95057000-95061400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr9:95057000-95061400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:95057000-95061400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr9:95057000-95061400	Weak transcription	Lung	lung
15	chr9:95057000-95061400	Weak transcription	Spleen	Spleen
16	chr9:95057000-95064800	Weak transcription	Ovary	ovary
17	chr9:95057000-95065000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr9:95057000-95070400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:95057000-95072600	Weak transcription	Gastric	stomach
20	chr9:95057000-95087000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:95057200-95059400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr9:95057200-95059400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr9:95057200-95059400	Weak transcription	Adipose Nuclei	Adipose
24	chr9:95057200-95059400	Weak transcription	Brain Germinal Matrix	brain
25	chr9:95057200-95059400	Weak transcription	Brain Substantia Nigra	brain
26	chr9:95057200-95059400	Weak transcription	Colon Smooth Muscle	Colon
27	chr9:95057200-95059400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr9:95057200-95059400	Weak transcription	Fetal Brain Female	brain
29	chr9:95057200-95059400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr9:95057200-95059600	Weak transcription	Primary T cells from cord blood	blood
31	chr9:95057200-95059600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr9:95057200-95059600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr9:95057200-95059800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr9:95057200-95060200	Weak transcription	Brain Anterior Caudate	brain
35	chr9:95057200-95060200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr9:95057200-95060400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr9:95057200-95060400	Weak transcription	Fetal Kidney	kidney
38	chr9:95057200-95060400	Weak transcription	Fetal Stomach	stomach
39	chr9:95057200-95061000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr9:95057200-95061400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr9:95057200-95061400	Weak transcription	Brain Angular Gyrus	brain
42	chr9:95057200-95063400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr9:95057200-95069000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr9:95057400-95059400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr9:95057400-95059400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr9:95057400-95059400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr9:95057400-95059400	Weak transcription	HepG2	liver
48	chr9:95057400-95059600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr9:95057400-95059800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr9:95057400-95060000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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