Variant report

Variant	rs41276829
Chromosome Location	chr9:95048976-95048977
allele	C/T
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	chr9:95048736-95059563	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:95012295..95015552-chr9:95048045..95050189,3	K562	blood:
2	chr9:95020468..95022935-chr9:95048495..95050769,2	MCF-7	breast:
3	chr9:95041855..95050591-chr9:95053528..95058799,10	MCF-7	breast:
4	chr9:95047794..95051016-chr9:95086583..95089412,4	K562	blood:

Variant related genes	Relation type
IARS	TF binding region
ENSG00000198000	Chromatin interaction
ENSG00000239183	Chromatin interaction
ENSG00000196305	Chromatin interaction
ENSG00000188312	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs35496743	1.00[AFR][1000 genomes]
rs35779901	1.00[AFR][1000 genomes]
rs41278665	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72752406	1.00[AFR][1000 genomes]
rs9409665	0.81[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	nsv972780	chr9:95008644-95049016	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 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	chr9:94990200-95054000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:94991200-95052400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr9:94991200-95053600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
4	chr9:94991400-95050400	Strong transcription	Dnd41	blood
5	chr9:94991400-95052400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:94991400-95053600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr9:94991400-95053800	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr9:94991400-95053800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr9:94991800-95053800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr9:94991800-95054000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:94994000-95053000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:94994600-95051200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr9:94996200-95051400	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr9:94996200-95051400	Strong transcription	Fetal Thymus	thymus
15	chr9:94996200-95052000	Strong transcription	Fetal Muscle Trunk	muscle
16	chr9:94996400-95051400	Strong transcription	Fetal Muscle Leg	muscle
17	chr9:94996400-95052000	Strong transcription	Duodenum Mucosa	Duodenum
18	chr9:94998600-95050600	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr9:94998600-95051200	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr9:94998600-95051600	Strong transcription	Adipose Nuclei	Adipose
21	chr9:94998800-95049600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr9:94998800-95050200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr9:94998800-95051400	Strong transcription	Fetal Intestine Large	intestine
24	chr9:94999400-95051000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr9:94999600-95049600	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr9:95000400-95050800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
27	chr9:95000600-95049000	Strong transcription	Placenta	Placenta
28	chr9:95002600-95054000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr9:95009000-95053800	Strong transcription	HSMM	muscle
30	chr9:95009600-95054000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr9:95011600-95052000	Strong transcription	K562	blood
32	chr9:95011800-95051400	Strong transcription	HepG2	liver
33	chr9:95012000-95052200	Strong transcription	GM12878-XiMat	blood
34	chr9:95015400-95053000	Strong transcription	Primary hematopoietic stem cells	blood
35	chr9:95015800-95053200	Strong transcription	Hela-S3	cervix
36	chr9:95019200-95053600	Strong transcription	HUVEC	blood vessel
37	chr9:95028200-95051600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr9:95029800-95054000	Weak transcription	Stomach Mucosa	stomach
39	chr9:95038800-95051600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr9:95039000-95051800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr9:95039000-95052800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr9:95039000-95053200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr9:95039200-95051800	Strong transcription	HMEC	breast
44	chr9:95039200-95052200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr9:95039200-95052600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr9:95039400-95052600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr9:95039800-95052600	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr9:95039800-95052800	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr9:95040000-95051400	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr9:95040000-95052200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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