Variant report

Variant	rs10993358
Chromosome Location	chr9:97582210-97582211
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr9:97581387-97582211	A549	lung:	n/a	n/a
2	SIN3AK20	chr9:97581299-97582327	MCF-7	breast:	n/a	n/a
3	FOXM1	chr9:97581258-97582251	MCF-7	breast:	n/a	n/a
4	GATA3	chr9:97581275-97582267	MCF-7	breast:	n/a	n/a
5	TCF12	chr9:97581218-97582403	MCF-7	breast:	n/a	n/a
6	SIN3AK20	chr9:97581159-97582298	MCF-7	breast:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:97580323..97584825-chr9:97627426..97631044,6	MCF-7	breast:
2	chr9:97577390..97585730-chr9:97765650..97771704,20	MCF-7	breast:
3	chr9:97580607..97583233-chr9:97622786..97625198,2	MCF-7	breast:
4	chr9:97581096..97584507-chr9:97628136..97631162,3	MCF-7	breast:
5	chr9:97542228..97547641-chr9:97578377..97583453,10	MCF-7	breast:
6	chr9:97580281..97582910-chr9:97669782..97672711,3	MCF-7	breast:
7	chr9:97563933..97571351-chr9:97576672..97582632,18	MCF-7	breast:
8	chr9:97581227..97584378-chr9:97852689..97856383,4	MCF-7	breast:
9	chr9:97562492..97588737-chr9:97670126..97691056,102	MCF-7	breast:
10	chr9:97580961..97582572-chr9:97587930..97589947,2	MCF-7	breast:
11	chr9:97543312..97547479-chr9:97579071..97582826,7	MCF-7	breast:
12	chr9:97579901..97582552-chr9:97755599..97757170,2	MCF-7	breast:
13	chr9:97577481..97583901-chr9:97765035..97772381,17	MCF-7	breast:
14	chr9:97572097..97590438-chr9:97672990..97690806,63	MCF-7	breast:
15	chr9:97571425..97578055-chr9:97578265..97583690,17	MCF-7	breast:
16	chr9:97545217..97545874-chr9:97581739..97582359,2	MCF-7	breast:
17	chr9:97580692..97583696-chr9:97588466..97591730,4	MCF-7	breast:
18	chr9:97579092..97582374-chr9:97582651..97585462,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000230815	TF binding region
ENSG00000148120	Chromatin interaction
ENSG00000252153	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10512250	1.00[GIH][hapmap]
rs10993328	0.82[ASN][1000 genomes]
rs10993339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10993357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993359	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993367	0.91[ASN][1000 genomes]
rs10993371	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10993373	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10993379	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10993400	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs10993422	1.00[GIH][hapmap]
rs10993423	1.00[GIH][hapmap]
rs10993429	1.00[GIH][hapmap]
rs10993446	1.00[GIH][hapmap]
rs10993448	1.00[JPT][hapmap]
rs11534283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12236906	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12238135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16911887	1.00[GIH][hapmap]
rs3802457	1.00[GIH][hapmap]
rs3802458	1.00[GIH][hapmap]
rs59409790	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7036387	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7875888	1.00[GIH][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893596	chr9:97321172-97598966	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97563400-97584200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr9:97563600-97594400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr9:97563800-97584200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:97564000-97589200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr9:97565200-97587000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr9:97565400-97584200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:97567400-97593400	Weak transcription	Thymus	Thymus
8	chr9:97568600-97589000	Weak transcription	Liver	Liver
9	chr9:97568800-97586800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:97569000-97583800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:97569000-97584200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr9:97569000-97584200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr9:97569200-97586400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr9:97569200-97589000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr9:97569400-97587600	Weak transcription	Brain Germinal Matrix	brain
16	chr9:97569400-97589600	Weak transcription	Fetal Thymus	thymus
17	chr9:97569600-97586200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr9:97570000-97594400	Weak transcription	Dnd41	blood
19	chr9:97570000-97601400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr9:97570400-97590400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr9:97571400-97584000	Weak transcription	Fetal Kidney	kidney
22	chr9:97571800-97622600	Weak transcription	Primary B cells from cord blood	blood
23	chr9:97572000-97601600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr9:97572400-97583600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:97572400-97588600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr9:97572600-97593600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr9:97574200-97590000	Weak transcription	Fetal Intestine Large	intestine
28	chr9:97574400-97588600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr9:97575200-97587600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr9:97575400-97582800	Weak transcription	GM12878-XiMat	blood
31	chr9:97575400-97583200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr9:97575400-97586800	Weak transcription	Colon Smooth Muscle	Colon
33	chr9:97576000-97588400	Weak transcription	Right Ventricle	heart
34	chr9:97576200-97588400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:97578800-97582600	Enhancers	Placenta	Placenta
36	chr9:97579600-97583000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:97580400-97584200	Weak transcription	Lung	lung
38	chr9:97580400-97584400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:97580400-97590600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr9:97580600-97583400	Weak transcription	Primary T cells from cord blood	blood
41	chr9:97580600-97584000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr9:97580600-97584200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr9:97580600-97584200	Weak transcription	Osteobl	bone
44	chr9:97580600-97584400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr9:97580600-97587800	Weak transcription	Adipose Nuclei	Adipose
46	chr9:97580600-97588600	Weak transcription	Gastric	stomach
47	chr9:97580600-97588600	Weak transcription	Pancreas	Pancrea
48	chr9:97580600-97600200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr9:97580800-97583400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr9:97580800-97584600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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