Variant report

Variant	rs7046430
Chromosome Location	chr9:94860578-94860579
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94850893..94855871-chr9:94857090..94860833,5	K562	blood:
2	chr9:94849623..94853423-chr9:94859037..94861746,3	MCF-7	breast:
3	chr9:94860200..94862194-chr9:94864408..94866012,2	MCF-7	breast:
4	chr9:94859639..94862481-chr9:94877750..94879345,2	MCF-7	breast:
5	chr9:94860515..94863568-chr9:94875903..94878100,4	MCF-7	breast:
6	chr10:91461017..91461847-chr9:94860290..94860795,2	HCT-116	colon:
7	chr9:94853798..94856024-chr9:94859327..94862395,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090054	Chromatin interaction
ENSG00000138182	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10118072	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10512220	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10733743	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10739924	0.88[ASN][1000 genomes]
rs10739925	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10820931	0.88[ASN][1000 genomes]
rs12340044	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1892268	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2297568	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2895201	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3847308	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6479400	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6479402	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7020136	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7023075	0.80[ASN][1000 genomes]
rs7035867	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7037848	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7041193	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7042102	0.89[ASN][1000 genomes]
rs7848874	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7848987	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7859570	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7859689	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7869504	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7871444	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv831653	chr9:94692454-94867542	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	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
6	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94817800-94877000	Weak transcription	Fetal Heart	heart
2	chr9:94829000-94862600	Weak transcription	Hela-S3	cervix
3	chr9:94830800-94873800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr9:94839400-94861000	Weak transcription	HMEC	breast
5	chr9:94840200-94865400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr9:94840600-94872000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr9:94842200-94860600	Weak transcription	Aorta	Aorta
8	chr9:94842200-94862400	Weak transcription	Esophagus	oesophagus
9	chr9:94842400-94861000	Weak transcription	Small Intestine	intestine
10	chr9:94842800-94866000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr9:94842800-94867600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr9:94842800-94876600	Weak transcription	Colonic Mucosa	Colon
13	chr9:94843000-94866000	Weak transcription	Lung	lung
14	chr9:94844000-94860600	Weak transcription	Spleen	Spleen
15	chr9:94844000-94861000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr9:94851200-94860600	Weak transcription	Fetal Brain Male	brain
17	chr9:94851400-94860600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr9:94851400-94860800	Weak transcription	NH-A	brain
19	chr9:94851400-94862400	Weak transcription	HSMMtube	muscle
20	chr9:94851400-94862600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:94851400-94862600	Weak transcription	Dnd41	blood
22	chr9:94851400-94862600	Weak transcription	NHLF	lung
23	chr9:94851400-94864000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr9:94851400-94864400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr9:94851400-94865400	Weak transcription	Thymus	Thymus
26	chr9:94851400-94876600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr9:94851600-94860600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr9:94851600-94860800	Weak transcription	Fetal Intestine Small	intestine
29	chr9:94851600-94865600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr9:94851800-94866000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr9:94851800-94867600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr9:94852200-94860600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr9:94853200-94865400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr9:94855400-94860800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:94857000-94862200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr9:94857000-94875400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr9:94857200-94866200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr9:94857400-94860600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr9:94857400-94865600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr9:94857600-94861000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr9:94857800-94862600	Weak transcription	A549	lung
42	chr9:94857800-94866200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr9:94858000-94862600	Weak transcription	NHDF-Ad	bronchial
44	chr9:94858200-94867600	Weak transcription	Brain Angular Gyrus	brain
45	chr9:94858200-94869000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr9:94858200-94873600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr9:94858400-94860800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr9:94858400-94861000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr9:94858400-94861000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr9:94858400-94862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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