Variant report

Variant	rs9798189
Chromosome Location	chr2:11468937-11468938
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11467535..11471011-chr2:11482918..11485202,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10180914	0.86[ASN][1000 genomes]
rs12476188	0.84[ASN][1000 genomes]
rs12476632	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12622447	0.82[AMR][1000 genomes]
rs12692436	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13016911	0.92[ASN][1000 genomes]
rs35844125	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4669708	0.91[ASN][1000 genomes]
rs6709947	0.92[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	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11454400-11469800	Weak transcription	Fetal Brain Male	brain
2	chr2:11455000-11469200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:11456000-11469400	Weak transcription	HSMM	muscle
4	chr2:11457200-11476400	Weak transcription	Fetal Intestine Small	intestine
5	chr2:11457400-11469800	Weak transcription	Hela-S3	cervix
6	chr2:11459800-11469400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:11460600-11469400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:11460800-11469800	Weak transcription	Fetal Lung	lung
9	chr2:11461000-11476400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:11461200-11469400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:11464400-11475200	Weak transcription	Aorta	Aorta
12	chr2:11466200-11469400	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:11466800-11469000	Enhancers	HepG2	liver
14	chr2:11466800-11469600	Weak transcription	Liver	Liver
15	chr2:11467000-11470200	Weak transcription	NHLF	lung
16	chr2:11467000-11480200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:11467400-11470000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:11467400-11470400	Weak transcription	K562	blood
19	chr2:11467400-11472600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:11467400-11481200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:11467600-11469400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:11467600-11469600	Weak transcription	A549	lung
23	chr2:11467600-11469600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr2:11467600-11470400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr2:11467600-11471400	Weak transcription	Brain Angular Gyrus	brain
26	chr2:11467600-11472000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:11467600-11481600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:11467800-11469400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:11467800-11470000	Weak transcription	GM12878-XiMat	blood
30	chr2:11467800-11470400	Weak transcription	Right Atrium	heart
31	chr2:11467800-11470800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:11467800-11470800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:11467800-11471400	Weak transcription	Right Ventricle	heart
34	chr2:11467800-11471400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:11467800-11473400	Weak transcription	Adipose Nuclei	Adipose
36	chr2:11467800-11480200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:11468000-11469800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:11468000-11470400	Weak transcription	Ovary	ovary
39	chr2:11468000-11476400	Weak transcription	Psoas Muscle	Psoas
40	chr2:11468200-11469200	Weak transcription	NHDF-Ad	bronchial
41	chr2:11468200-11470600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:11468400-11481200	Weak transcription	HUVEC	blood vessel

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