Variant report

Variant	rs11144908
Chromosome Location	chr9:79068250-79068251
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:79058598..79061580-chr9:79067952..79069510,2	MCF-7	breast:
2	chr9:79065522..79068324-chr9:79072541..79074229,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187210	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10781358	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10869781	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144870	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11144897	0.89[EUR][1000 genomes]
rs11144905	0.85[ASN][1000 genomes]
rs11144909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11548955	0.81[AMR][1000 genomes]
rs12351617	1.00[ASN][1000 genomes]
rs12378822	0.90[ASN][1000 genomes]
rs12380332	0.95[ASN][1000 genomes]
rs1324212	0.85[ASN][1000 genomes]
rs2480213	0.92[AMR][1000 genomes]
rs502417	0.92[AMR][1000 genomes]
rs512269	0.90[AMR][1000 genomes]
rs513301	0.90[AMR][1000 genomes]
rs55740812	0.83[ASN][1000 genomes]
rs57339182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57429014	0.85[ASN][1000 genomes]
rs58651349	1.00[ASN][1000 genomes]
rs59322809	1.00[ASN][1000 genomes]
rs602075	0.90[AMR][1000 genomes]
rs62564444	0.85[ASN][1000 genomes]
rs62564446	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62564449	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62564454	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62565109	0.94[ASN][1000 genomes]
rs62567918	0.83[ASN][1000 genomes]
rs62568692	0.91[EUR][1000 genomes]
rs6560524	1.00[ASN][1000 genomes]
rs7854540	0.95[ASN][1000 genomes]
rs785914	0.88[AMR][1000 genomes]
rs785915	0.88[AMR][1000 genomes]
rs785916	0.88[AMR][1000 genomes]
rs785928	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893478	chr9:78933874-79101006	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79063000-79070800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr9:79064600-79071000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:79065200-79069200	Enhancers	NHDF-Ad	bronchial
4	chr9:79066200-79071000	Weak transcription	A549	lung
5	chr9:79066400-79068600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:79066600-79070800	Weak transcription	HSMMtube	muscle
7	chr9:79066600-79073600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:79066800-79068400	Weak transcription	NHLF	lung
9	chr9:79066800-79070800	Weak transcription	NH-A	brain
10	chr9:79066800-79071000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:79066800-79071200	Weak transcription	HMEC	breast
12	chr9:79067400-79068400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr9:79067400-79068800	Enhancers	HSMM	muscle
14	chr9:79067400-79069200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:79067400-79069200	Enhancers	Osteobl	bone
16	chr9:79067400-79069400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:79067400-79069400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr9:79067600-79068400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr9:79067600-79068400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:79067600-79068600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:79067600-79069200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr9:79067800-79068400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr9:79067800-79069800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:79067800-79071200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr9:79068000-79069600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:79068000-79069600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr9:79068000-79071600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr9:79068200-79071000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr9:79068200-79071200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr9:79068200-79071400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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