Variant report

Variant	rs12341286
Chromosome Location	chr9:71408647-71408648
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:5)
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	FOS	chr9:71408617-71408811	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr9:71408522-71408878	MCF10A-Er-Src	breast:	n/a	n/a
3	JUND	chr9:71408576-71409142	K562	blood:	n/a	n/a
4	FOS	chr9:71408583-71408826	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:71398863..71402159-chr9:71407140..71410574,3	K562	blood:
2	chr9:71400597..71404451-chr9:71406708..71409668,4	MCF-7	breast:
3	chr9:71390215..71393175-chr9:71408433..71409952,2	K562	blood:
4	chr9:71394942..71397004-chr9:71406786..71409059,2	K562	blood:
5	chr9:71403930..71406409-chr9:71407791..71410873,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236998	TF binding region
ENSG00000187866	Chromatin interaction
ENSG00000236998	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10120881	1.00[AMR][1000 genomes]
rs11143714	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs11143717	0.93[AFR][1000 genomes]
rs56190398	1.00[AMR][1000 genomes]
rs73646773	1.00[AMR][1000 genomes]
rs73646774	1.00[AMR][1000 genomes]
rs73647029	1.00[AMR][1000 genomes]
rs73647030	1.00[AMR][1000 genomes]
rs73647032	1.00[AMR][1000 genomes]
rs73647035	1.00[AMR][1000 genomes]
rs73647036	1.00[AMR][1000 genomes]
rs73647037	1.00[AMR][1000 genomes]
rs73647039	1.00[AMR][1000 genomes]
rs73647042	1.00[AMR][1000 genomes]
rs73647048	1.00[AMR][1000 genomes]
rs73647049	1.00[AMR][1000 genomes]
rs73647050	1.00[AMR][1000 genomes]
rs73647051	1.00[AMR][1000 genomes]
rs73647052	1.00[AMR][1000 genomes]
rs9314837	1.00[AMR][1000 genomes]

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	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1047540	chr9:71401918-71803639	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv1050741	chr9:71405224-71450033	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv540148	chr9:71405224-71450033	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71396200-71409800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:71397200-71409600	Weak transcription	Colonic Mucosa	Colon
3	chr9:71397200-71417400	Weak transcription	Lung	lung
4	chr9:71398800-71409800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr9:71399000-71420200	Weak transcription	Fetal Stomach	stomach
6	chr9:71399800-71413200	Weak transcription	Dnd41	blood
7	chr9:71400600-71409200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:71400800-71409000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr9:71400800-71409000	Weak transcription	Adipose Nuclei	Adipose
10	chr9:71400800-71409000	Weak transcription	Small Intestine	intestine
11	chr9:71402600-71413400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr9:71402600-71413600	Weak transcription	Primary T cells from cord blood	blood
13	chr9:71403200-71419800	Weak transcription	Pancreas	Pancrea
14	chr9:71404400-71409800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr9:71404600-71408800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr9:71404600-71408800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr9:71404600-71431400	Weak transcription	HepG2	liver
18	chr9:71404800-71408800	Weak transcription	Fetal Intestine Large	intestine
19	chr9:71404800-71413200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr9:71407000-71409800	Weak transcription	Aorta	Aorta
21	chr9:71407200-71409200	Enhancers	Placenta	Placenta
22	chr9:71407200-71409800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:71408000-71409000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr9:71408000-71409800	Enhancers	Fetal Heart	heart
25	chr9:71408000-71410200	Enhancers	Gastric	stomach
26	chr9:71408000-71410200	Enhancers	K562	blood
27	chr9:71408200-71409200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr9:71408200-71409200	Enhancers	Right Ventricle	heart
29	chr9:71408200-71409400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr9:71408200-71409400	Enhancers	Left Ventricle	heart
31	chr9:71408200-71409600	Enhancers	Primary B cells from peripheral blood	blood
32	chr9:71408200-71410400	Enhancers	Fetal Intestine Small	intestine
33	chr9:71408400-71409000	Enhancers	Right Atrium	heart
34	chr9:71408400-71409000	Enhancers	Stomach Mucosa	stomach
35	chr9:71408400-71409200	Flanking Active TSS	GM12878-XiMat	blood
36	chr9:71408400-71409400	Enhancers	Duodenum Mucosa	Duodenum
37	chr9:71408400-71409600	Enhancers	Primary B cells from cord blood	blood
38	chr9:71408400-71410200	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr9:71408600-71409000	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr9:71408600-71409200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr9:71408600-71409400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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