Variant report

Variant	rs7869291
Chromosome Location	chr9:94904216-94904217
allele	G/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	NRF1	chr9:94903455-94904371	SK-N-SH	brain:	n/a	chr9:94904230-94904239
2	MXI1	chr9:94902085-94904234	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:94903732..94905881-chr9:94913415..94915626,3	MCF-7	breast:
2	chr9:94901685..94904988-chr9:95003695..95006795,3	MCF-7	breast:
3	chr9:94902223..94905302-chr9:94908199..94910430,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CENPP-3	chr9:94904101-94904386	NONHSAT133168

Variant related genes	Relation type
LINC00475	TF binding region
ENSG00000196305	Chromatin interaction
ENSG00000225511	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10119866	0.86[ASN][1000 genomes]
rs10992243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12339442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12339869	0.86[ASN][1000 genomes]
rs12349856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28667175	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28789204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57310547	0.86[ASN][1000 genomes]
rs57904627	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59671839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60568227	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479406	1.00[EUR][1000 genomes]
rs6479407	1.00[EUR][1000 genomes]
rs73514437	1.00[EUR][1000 genomes]
rs7861776	1.00[EUR][1000 genomes]
rs7865975	1.00[EUR][1000 genomes]
rs7866872	1.00[EUR][1000 genomes]
rs7870092	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv969760	chr9:94877924-94966209	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv893572	chr9:94891778-94944778	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv972778	chr9:94902068-94908273	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94903000-94904800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr9:94903400-94904400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr9:94903400-94904400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr9:94903400-94904400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:94903400-94904400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
6	chr9:94903400-94904400	Active TSS	Pancreas	Pancrea
7	chr9:94903400-94904400	Active TSS	HSMM	muscle
8	chr9:94903400-94904600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:94903400-94904800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:94903400-94904800	Active TSS	HSMMtube	muscle
11	chr9:94903400-94905000	Active TSS	Osteobl	bone
12	chr9:94903400-94908800	Weak transcription	K562	blood
13	chr9:94903600-94904800	Active TSS	NHLF	lung
14	chr9:94903800-94906600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:94904000-94904400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:94904000-94904400	Bivalent/Poised TSS	Colonic Mucosa	Colon
17	chr9:94904000-94908800	Weak transcription	HMEC	breast
18	chr9:94904000-94909400	Weak transcription	Right Atrium	heart
19	chr9:94904200-94904400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
20	chr9:94904200-94904400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr9:94904200-94904400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:94904200-94904400	Active TSS	Muscle Satellite Cultured Cells	--
23	chr9:94904200-94904400	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr9:94904200-94904400	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr9:94904200-94904400	Bivalent Enhancer	Fetal Stomach	stomach
26	chr9:94904200-94904400	Flanking Active TSS	NH-A	brain
27	chr9:94904200-94904800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:94904200-94904800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr9:94904200-94908200	Weak transcription	HUVEC	blood vessel
30	chr9:94904200-94908600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr9:94904200-94908600	Weak transcription	Ovary	ovary
32	chr9:94904200-94908800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr9:94904200-94909000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr9:94904200-94909000	Weak transcription	Gastric	stomach

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