Variant report

Variant	rs1417290
Chromosome Location	chr9:7046917-7046918
allele	A/G
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	MAFK	chr9:7046854-7046996	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
KDM4C	TF binding region

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12003023	0.86[CHD][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap];0.81[ASN][1000 genomes]
rs12342947	0.86[CHD][hapmap];0.87[TSI][hapmap]
rs1407858	0.83[CHD][hapmap]
rs1575452	0.86[CHD][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs16925200	0.86[CHD][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap];0.83[ASN][1000 genomes]
rs16925215	0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs16925222	0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2381537	0.83[JPT][hapmap]
rs35821841	0.81[ASN][1000 genomes]
rs7045476	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892166	chr9:6602821-7222495	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv892181	chr9:6680477-7070962	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
3	nsv1023906	chr9:6731786-7372132	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831501	chr9:6868099-7058526	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv892185	chr9:6929053-7070962	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv870178	chr9:6941584-7060029	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv892186	chr9:6942605-7075305	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1024763	chr9:7022554-7061314	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv466117	chr9:7030268-7084558	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv613258	chr9:7030268-7084558	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv613259	chr9:7032776-7541338	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7009000-7055200	Weak transcription	K562	blood
2	chr9:7009000-7056400	Weak transcription	Brain Substantia Nigra	brain
3	chr9:7009000-7076600	Weak transcription	HSMM	muscle
4	chr9:7009200-7077600	Weak transcription	Osteobl	bone
5	chr9:7009800-7076600	Weak transcription	HSMMtube	muscle
6	chr9:7011800-7048800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr9:7012200-7052600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr9:7012200-7111200	Weak transcription	Colonic Mucosa	Colon
9	chr9:7012800-7048800	Weak transcription	Dnd41	blood
10	chr9:7012800-7076800	Weak transcription	Pancreas	Pancrea
11	chr9:7014600-7048000	Weak transcription	Colon Smooth Muscle	Colon
12	chr9:7017800-7075000	Weak transcription	HepG2	liver
13	chr9:7018600-7049600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr9:7018800-7047200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr9:7018800-7047800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:7018800-7064400	Weak transcription	Psoas Muscle	Psoas
17	chr9:7020000-7052800	Weak transcription	NHLF	lung
18	chr9:7028000-7047000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr9:7028000-7048800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr9:7028400-7052800	Weak transcription	Brain Hippocampus Middle	brain
21	chr9:7028400-7076800	Weak transcription	Placenta	Placenta
22	chr9:7028800-7047000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr9:7028800-7047800	Weak transcription	Fetal Intestine Large	intestine
24	chr9:7028800-7048000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr9:7028800-7076400	Weak transcription	Aorta	Aorta
26	chr9:7028800-7077000	Weak transcription	Esophagus	oesophagus
27	chr9:7028800-7086400	Weak transcription	Right Ventricle	heart
28	chr9:7029000-7047800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr9:7029000-7052600	Weak transcription	Brain Anterior Caudate	brain
30	chr9:7029000-7061400	Weak transcription	Fetal Intestine Small	intestine
31	chr9:7029000-7076400	Weak transcription	Ovary	ovary
32	chr9:7029000-7076600	Weak transcription	Lung	lung
33	chr9:7029000-7077400	Weak transcription	Gastric	stomach
34	chr9:7029000-7081200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr9:7032800-7050000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr9:7033800-7047000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr9:7034000-7048800	Weak transcription	Left Ventricle	heart
38	chr9:7034000-7103600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr9:7035200-7047000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:7037200-7052800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr9:7038000-7048800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr9:7041800-7052000	Strong transcription	Primary B cells from peripheral blood	blood
43	chr9:7042200-7056800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr9:7042800-7052400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr9:7043000-7069400	Weak transcription	NHDF-Ad	bronchial
46	chr9:7043400-7103600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr9:7044400-7052800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr9:7044400-7055600	Weak transcription	Hela-S3	cervix
49	chr9:7044800-7052600	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr9:7045000-7059200	Weak transcription	Fetal Muscle Trunk	muscle

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