Variant report

Variant	rs10512211
Chromosome Location	chr9:94104260-94104261
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94103649..94105719-chr9:94123863..94125427,2	MCF-7	breast:
2	chr9:94103409..94105645-chr9:94120684..94122259,2	K562	blood:
3	chr9:94097644..94101149-chr9:94101391..94105187,4	K562	blood:
4	chr9:94087425..94089272-chr9:94102729..94105618,2	K562	blood:
5	chr9:94096260..94098366-chr9:94101881..94104584,2	MCF-7	breast:
6	chr9:94104145..94106983-chr9:94120665..94122259,2	K562	blood:
7	chr9:94094684..94097540-chr9:94102093..94106003,3	K562	blood:

Variant related genes	Relation type
ENSG00000148090	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10512210	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991814	0.91[CEU][hapmap]
rs16907277	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907297	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907323	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17579908	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2282145	1.00[CHB][hapmap]
rs3827826	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4628374	0.82[EUR][1000 genomes]
rs58307373	0.82[EUR][1000 genomes]
rs59581968	0.84[EUR][1000 genomes]
rs60953089	0.84[EUR][1000 genomes]
rs61021072	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7029087	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7043552	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73650963	0.84[EUR][1000 genomes]
rs7852934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7856555	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7856668	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7857020	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7860510	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7866425	0.81[EUR][1000 genomes]
rs7869154	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7874056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893570	chr9:93973938-94148084	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482877	chr9:93979351-94157734	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv893571	chr9:94072113-94202927	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10512211	ECM2	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94052000-94119200	Weak transcription	Small Intestine	intestine
2	chr9:94090200-94106200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr9:94090600-94108400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:94090600-94109400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:94093200-94122600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr9:94097800-94121600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr9:94099200-94105400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:94099200-94105600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr9:94099200-94105800	Strong transcription	Primary B cells from peripheral blood	blood
10	chr9:94099600-94104400	Strong transcription	Stomach Smooth Muscle	stomach
11	chr9:94099800-94108600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr9:94100000-94104400	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr9:94100000-94106800	Strong transcription	Primary B cells from cord blood	blood
14	chr9:94100400-94105200	Strong transcription	Fetal Intestine Large	intestine
15	chr9:94100400-94105400	Strong transcription	HepG2	liver
16	chr9:94100600-94104400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr9:94100600-94105400	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr9:94101000-94104800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr9:94101000-94105400	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr9:94101000-94122400	Weak transcription	HUVEC	blood vessel
21	chr9:94101200-94104800	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr9:94101200-94104800	Strong transcription	Fetal Brain Female	brain
23	chr9:94101400-94104400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:94101400-94104400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr9:94101400-94104600	Strong transcription	Brain Cingulate Gyrus	brain
26	chr9:94101400-94104800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr9:94101400-94104800	Strong transcription	Liver	Liver
28	chr9:94101400-94104800	Strong transcription	Duodenum Mucosa	Duodenum
29	chr9:94101400-94104800	Strong transcription	Dnd41	blood
30	chr9:94101400-94105200	Strong transcription	Primary T cells from cord blood	blood
31	chr9:94101400-94105200	Strong transcription	Brain Germinal Matrix	brain
32	chr9:94101400-94105200	Strong transcription	K562	blood
33	chr9:94101400-94105400	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr9:94101400-94105400	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr9:94101600-94104400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr9:94101800-94105600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr9:94102000-94104400	Strong transcription	Fetal Intestine Small	intestine
38	chr9:94102000-94104400	Strong transcription	Fetal Muscle Trunk	muscle
39	chr9:94102000-94104600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:94102000-94105000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr9:94102000-94106000	Strong transcription	Fetal Stomach	stomach
42	chr9:94102000-94122400	Weak transcription	HMEC	breast
43	chr9:94102200-94104400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr9:94102200-94104400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr9:94102400-94104400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:94102400-94104400	Strong transcription	Colonic Mucosa	Colon
47	chr9:94102400-94119400	Weak transcription	Psoas Muscle	Psoas
48	chr9:94103000-94104800	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr9:94103000-94105200	Genic enhancers	Thymus	Thymus
50	chr9:94103000-94105400	Strong transcription	Fetal Muscle Leg	muscle

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