Variant report

Variant	rs6474871
Chromosome Location	chr9:14910635-14910636
allele	A/C
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	MYC	chr9:14910616-14910769	MCF-7	breast:	n/a	n/a
2	POLR2A	chr9:14910614-14910708	Gliobla	brain:	n/a	n/a
3	POLR2A	chr9:14910427-14910759	MCF-7	breast:	n/a	n/a
4	JUN	chr9:14910463-14910694	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr9:14910615-14910722	Fibrobl	skin:	n/a	n/a
6	POLR2A	chr9:14909595-14910842	SK-N-MC	brain:	n/a	n/a
7	MYC	chr9:14910587-14910782	MCF-7	breast:	n/a	n/a
8	KAP1	chr9:14909697-14910818	HEK293	kidney:	n/a	n/a
9	POLR2A	chr9:14910607-14910748	MCF-7	breast:	n/a	n/a
10	POLR2A	chr9:14910222-14910677	HepG2	liver:	n/a	n/a
11	MYC	chr9:14910635-14910642	MCF-7	breast:	n/a	n/a
12	POLR2A	chr9:14910425-14910757	A549	lung:	n/a	n/a
13	SIN3A	chr9:14909934-14910643	H1-hESC	embryonic stem cell:	n/a	n/a
14	MYC	chr9:14910447-14910760	MCF-7	breast:	n/a	n/a
15	KAP1	chr9:14910011-14910730	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
FREM1	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10122340	0.99[ASN][1000 genomes]
rs10756624	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12683739	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2030594	0.96[ASN][1000 genomes]
rs2140323	0.94[ASN][1000 genomes]
rs3850442	0.93[ASN][1000 genomes]
rs3922832	0.92[EUR][1000 genomes]
rs7044531	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7856510	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7861117	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv613637	chr9:14524438-15011915	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv831518	chr9:14760638-14953501	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1018416	chr9:14846753-14921247	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv613647	chr9:14852141-15016475	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14907400-14910800	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr9:14907400-14915000	Weak transcription	Small Intestine	intestine
3	chr9:14907600-14910800	Active TSS	Aorta	Aorta
4	chr9:14908200-14910800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:14908800-14910800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr9:14908800-14910800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr9:14909000-14910800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr9:14909000-14910800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr9:14909000-14910800	Enhancers	K562	blood
10	chr9:14909200-14910800	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr9:14909600-14910800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:14909800-14910800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr9:14909800-14910800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:14909800-14911200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:14910000-14910800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr9:14910000-14910800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:14910000-14910800	Flanking Bivalent TSS/Enh	HepG2	liver
18	chr9:14910200-14910800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
19	chr9:14910200-14910800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:14910200-14910800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr9:14910200-14910800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr9:14910200-14910800	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr9:14910200-14910800	Active TSS	Brain Angular Gyrus	brain
24	chr9:14910200-14910800	Active TSS	Brain Cingulate Gyrus	brain
25	chr9:14910200-14910800	Enhancers	Gastric	stomach
26	chr9:14910200-14910800	Enhancers	Lung	lung
27	chr9:14910200-14910800	Flanking Active TSS	Pancreas	Pancrea
28	chr9:14910200-14910800	Enhancers	Psoas Muscle	Psoas
29	chr9:14910200-14910800	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr9:14910200-14910800	Flanking Active TSS	NHDF-Ad	bronchial
31	chr9:14910200-14911000	Enhancers	Placenta	Placenta
32	chr9:14910400-14910800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr9:14910400-14910800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:14910400-14910800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:14910400-14910800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:14910400-14910800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr9:14910400-14910800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr9:14910400-14910800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:14910400-14910800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr9:14910400-14910800	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr9:14910400-14910800	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr9:14910400-14910800	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr9:14910400-14910800	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
44	chr9:14910400-14910800	Flanking Active TSS	Fetal Heart	heart
45	chr9:14910400-14910800	Flanking Active TSS	Fetal Muscle Trunk	muscle
46	chr9:14910400-14910800	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr9:14910400-14910800	Flanking Active TSS	Fetal Stomach	stomach
48	chr9:14910400-14910800	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr9:14910400-14910800	Flanking Active TSS	Right Atrium	heart
50	chr9:14910400-14910800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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