Variant report

Variant	rs10818575
Chromosome Location	chr9:100945146-100945147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100879718..100885853-chr9:100942357..100948328,6	K562	blood:
2	chr9:100943163..100949594-chr9:100950229..100956766,12	K562	blood:
3	chr9:100860467..100862654-chr9:100943409..100946106,2	K562	blood:
4	chr9:100934520..100936793-chr9:100944287..100945843,2	MCF-7	breast:
5	chr9:100944644..100946666-chr9:100948714..100950226,2	K562	blood:
6	chr9:100879718..100882500-chr9:100943767..100946053,2	K562	blood:
7	chr9:100943812..100946692-chr9:101037813..101039836,2	K562	blood:
8	chr9:100944487..100947115-chr9:101025463..101028083,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000106785	Chromatin interaction
ENSG00000106789	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10760184	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10818584	1.00[ASN][1000 genomes]
rs10985340	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10985358	0.94[ASN][1000 genomes]
rs10985359	0.94[ASN][1000 genomes]
rs10985360	0.94[ASN][1000 genomes]
rs10985367	0.94[ASN][1000 genomes]
rs10985508	0.82[CHD][hapmap]
rs11791308	0.98[ASN][1000 genomes]
rs11791479	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12238262	0.94[ASN][1000 genomes]
rs12353091	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16913615	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16913616	0.84[CEU][hapmap];0.85[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];0.93[JPT][hapmap];0.90[MEX][hapmap];0.94[ASN][1000 genomes]
rs16913619	0.94[ASN][1000 genomes]
rs16913640	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16913644	0.85[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs3758258	0.90[CHD][hapmap];0.85[JPT][hapmap]
rs3780454	0.84[CEU][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap]
rs3824452	0.91[CHD][hapmap];0.85[JPT][hapmap]
rs4743183	0.83[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap];0.81[MEX][hapmap];0.96[ASN][1000 genomes]
rs4743184	0.84[CEU][hapmap];0.92[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.81[MEX][hapmap];0.96[ASN][1000 genomes]
rs55752813	0.94[ASN][1000 genomes]
rs56358945	0.92[ASN][1000 genomes]
rs57124873	0.86[ASN][1000 genomes]
rs59025844	0.90[ASN][1000 genomes]
rs59604725	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482635	chr9:100775549-100953239	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1053729	chr9:100909554-100997718	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv520067	chr9:100927161-100978542	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv831663	chr9:100941048-101109492	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1045780	chr9:100943318-101080389	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised 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	17 gene(s)	inside rSNPs	diseases
7	nsv540180	chr9:100943318-101080389	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10818575	TBC1D2	cis	parietal	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100931800-100954400	Weak transcription	Right Atrium	heart
2	chr9:100932800-100951200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr9:100933400-100951400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr9:100933800-100950200	Weak transcription	Colonic Mucosa	Colon
5	chr9:100933800-100951400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr9:100934400-100954000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr9:100935200-100947800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr9:100935400-100953000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr9:100935400-100953000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr9:100935400-100953200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr9:100936000-100953000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr9:100936000-100953200	Weak transcription	Gastric	stomach
13	chr9:100937000-100948400	Weak transcription	Small Intestine	intestine
14	chr9:100937400-100947000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:100937800-100947400	Weak transcription	NHEK	skin
16	chr9:100937800-100951400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr9:100937800-100953200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr9:100938000-100945400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:100938000-100949800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr9:100938000-100952600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:100938000-100953000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr9:100939400-100947400	Weak transcription	Thymus	Thymus
23	chr9:100939600-100945800	Enhancers	Duodenum Mucosa	Duodenum
24	chr9:100940000-100951400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr9:100940400-100952400	Genic enhancers	Fetal Intestine Small	intestine
26	chr9:100940600-100947200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr9:100941600-100945800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr9:100941800-100946400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:100941800-100947800	Weak transcription	Esophagus	oesophagus
30	chr9:100941800-100949800	Enhancers	Fetal Intestine Large	intestine
31	chr9:100941800-100954000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr9:100942000-100946800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr9:100942600-100946800	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr9:100942600-100947200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr9:100942800-100947000	Weak transcription	Primary B cells from cord blood	blood
36	chr9:100942800-100947800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr9:100942800-100953400	Weak transcription	Primary T cells from cord blood	blood
38	chr9:100943000-100945600	Flanking Active TSS	K562	blood
39	chr9:100943000-100948000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr9:100943200-100946800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr9:100943400-100951400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr9:100943400-100952600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr9:100943600-100951400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr9:100944000-100945200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr9:100944000-100947000	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr9:100944200-100945800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr9:100944400-100945600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr9:100944400-100945800	Enhancers	Stomach Mucosa	stomach
49	chr9:100944400-100947800	Weak transcription	Spleen	Spleen
50	chr9:100944600-100945600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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