Variant report

Variant	rs73915164
Chromosome Location	chr2:11474853-11474854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11471245..11477004-chr2:11481417..11486329,8	MCF-7	breast:
2	chr2:11472516..11476992-chr2:11482916..11485822,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10929732	1.00[ASN][1000 genomes]
rs12467103	1.00[ASN][1000 genomes]
rs1901011	0.97[ASN][1000 genomes]
rs2230775	1.00[AMR][1000 genomes]
rs2290157	1.00[AMR][1000 genomes]
rs3771109	1.00[AMR][1000 genomes]
rs4668721	1.00[ASN][1000 genomes]
rs55714132	1.00[AMR][1000 genomes]
rs56263305	0.83[AFR][1000 genomes]
rs57282107	1.00[AMR][1000 genomes]
rs57339546	1.00[AMR][1000 genomes]
rs57404216	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57861284	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58007526	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58258043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58275781	1.00[AMR][1000 genomes]
rs59194382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59211791	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59266229	0.92[AFR][1000 genomes]
rs59883361	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61452244	0.96[AFR][1000 genomes]
rs61575329	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6720821	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6743977	0.89[ASN][1000 genomes]
rs73915106	1.00[AMR][1000 genomes]
rs73915107	1.00[AMR][1000 genomes]
rs73915109	1.00[AMR][1000 genomes]
rs73915134	1.00[AMR][1000 genomes]
rs73915144	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915151	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73915152	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73915154	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73915155	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73915156	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73915158	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73915159	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73915161	0.96[AFR][1000 genomes]
rs73915165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915167	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915170	0.83[AFR][1000 genomes]
rs73915172	0.83[AFR][1000 genomes]
rs73915173	0.83[AFR][1000 genomes]
rs73915388	1.00[AMR][1000 genomes]
rs73915389	1.00[AMR][1000 genomes]
rs73915390	1.00[AMR][1000 genomes]
rs73915394	1.00[AMR][1000 genomes]
rs73915395	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915396	1.00[AMR][1000 genomes]
rs73917504	1.00[AMR][1000 genomes]
rs73917507	1.00[AMR][1000 genomes]
rs73917508	1.00[AMR][1000 genomes]
rs73917511	1.00[AMR][1000 genomes]
rs7586803	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7591028	0.96[AFR][1000 genomes]
rs7596587	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
4	esv3460784	chr2:11474621-11475217	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	esv3512117	chr2:11474640-11475221	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	esv3402527	chr2:11474645-11475209	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	esv3460786	chr2:11474651-11475214	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv3512118	chr2:11474701-11475153	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	esv3460787	chr2:11474753-11475105	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	esv3512120	chr2:11474753-11475105	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11457200-11476400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:11461000-11476400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:11464400-11475200	Weak transcription	Aorta	Aorta
4	chr2:11467000-11480200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:11467400-11481200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:11467600-11481600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:11467800-11480200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:11468000-11476400	Weak transcription	Psoas Muscle	Psoas
9	chr2:11468400-11481200	Weak transcription	HUVEC	blood vessel
10	chr2:11470400-11479800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:11470400-11481400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:11470600-11475200	Weak transcription	Osteobl	bone
13	chr2:11470800-11475000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:11470800-11475200	Weak transcription	NHDF-Ad	bronchial
15	chr2:11470800-11475800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:11470800-11481200	Weak transcription	Right Atrium	heart
17	chr2:11470800-11481800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:11471000-11481200	Weak transcription	HSMM	muscle
19	chr2:11471200-11478600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:11471200-11480400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:11471400-11475800	Enhancers	Liver	Liver
22	chr2:11471600-11477000	Enhancers	HepG2	liver
23	chr2:11472200-11476400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:11472200-11476400	Weak transcription	Pancreas	Pancrea
25	chr2:11472200-11482800	Weak transcription	Gastric	stomach
26	chr2:11473200-11475600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:11473200-11476200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:11473600-11479800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:11473800-11479600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:11474000-11477000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:11474000-11479800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:11474200-11475200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:11474200-11475400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr2:11474200-11476400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:11474200-11480000	Weak transcription	Adipose Nuclei	Adipose
36	chr2:11474600-11475200	Enhancers	Stomach Mucosa	stomach
37	chr2:11474800-11475400	Enhancers	Ovary	ovary
38	chr2:11474800-11476000	Enhancers	A549	lung

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