Variant report

Variant	rs73915156
Chromosome Location	chr2:11438182-11438183
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11436708..11439216-chr2:11441108..11443775,3	K562	blood:
2	chr2:11436411..11439216-chr2:11442275..11444665,2	K562	blood:
3	chr2:11437034..11438737-chr2:11483029..11485386,2	K562	blood:
4	chr2:11437773..11439523-chr2:11445218..11447388,2	K562	blood:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10169455	1.00[ASN][1000 genomes]
rs10175719	0.86[ASN][1000 genomes]
rs10183296	1.00[ASN][1000 genomes]
rs10192593	0.94[ASN][1000 genomes]
rs10192994	1.00[ASN][1000 genomes]
rs10194620	1.00[ASN][1000 genomes]
rs10203916	1.00[ASN][1000 genomes]
rs11681822	1.00[ASN][1000 genomes]
rs12477052	0.86[ASN][1000 genomes]
rs12692435	1.00[ASN][1000 genomes]
rs12992581	1.00[ASN][1000 genomes]
rs12994807	1.00[ASN][1000 genomes]
rs13002722	1.00[ASN][1000 genomes]
rs13014721	1.00[ASN][1000 genomes]
rs1868584	0.94[ASN][1000 genomes]
rs2122384	1.00[ASN][1000 genomes]
rs2230775	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2290157	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2357995	0.84[ASN][1000 genomes]
rs3771109	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4353615	0.94[ASN][1000 genomes]
rs4668720	1.00[ASN][1000 genomes]
rs4669706	1.00[ASN][1000 genomes]
rs55714132	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57082519	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs57282107	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57339546	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57404216	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57861284	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58007526	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58258043	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58275781	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs59194382	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59211791	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59266229	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs59883361	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60643530	0.94[ASN][1000 genomes]
rs61452244	0.85[AFR][1000 genomes]
rs61575329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432184	0.94[ASN][1000 genomes]
rs6432185	0.88[ASN][1000 genomes]
rs6713382	0.94[ASN][1000 genomes]
rs6720821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6730673	0.94[ASN][1000 genomes]
rs6732258	0.91[ASN][1000 genomes]
rs6736240	1.00[ASN][1000 genomes]
rs6755337	1.00[ASN][1000 genomes]
rs6759490	0.94[ASN][1000 genomes]
rs72785499	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7355446	1.00[ASN][1000 genomes]
rs7355489	1.00[ASN][1000 genomes]
rs73915106	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73915107	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73915109	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73915134	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73915135	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs73915140	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs73915144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73915151	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915152	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915154	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915155	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915161	0.85[AFR][1000 genomes]
rs73915164	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73915165	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73915167	0.87[EUR][1000 genomes]
rs73915388	1.00[AMR][1000 genomes]
rs73915389	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73915390	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73915394	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73915395	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73915396	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73917504	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73917507	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73917508	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73917511	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs753770	1.00[ASN][1000 genomes]
rs7558664	0.94[ASN][1000 genomes]
rs7563468	1.00[ASN][1000 genomes]
rs7563928	1.00[ASN][1000 genomes]
rs7568064	0.94[ASN][1000 genomes]
rs7575837	1.00[ASN][1000 genomes]
rs7586803	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7591028	0.85[AFR][1000 genomes]
rs9712182	0.97[ASN][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	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	esv1827245	chr2:11385834-11442583	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	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
4	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11424800-11455200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:11426000-11438200	Weak transcription	Ovary	ovary
3	chr2:11426000-11442400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:11426000-11444800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:11426200-11443400	Weak transcription	HSMM	muscle
6	chr2:11426400-11441600	Weak transcription	Fetal Intestine Small	intestine
7	chr2:11426600-11442600	Weak transcription	Primary T cells from cord blood	blood
8	chr2:11426600-11446000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:11428800-11444200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:11429000-11439800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:11429000-11444800	Weak transcription	Left Ventricle	heart
12	chr2:11433200-11442600	Weak transcription	Psoas Muscle	Psoas
13	chr2:11433200-11445600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:11433200-11446200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:11433400-11443600	Weak transcription	Adipose Nuclei	Adipose
16	chr2:11433600-11439000	Weak transcription	Liver	Liver
17	chr2:11433600-11443400	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:11433600-11444600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:11433600-11446800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:11433600-11448000	Weak transcription	Right Ventricle	heart
21	chr2:11433800-11438800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:11434000-11438800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:11434000-11443400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:11434000-11443400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:11434600-11438800	Weak transcription	HepG2	liver
26	chr2:11436200-11438800	Enhancers	A549	lung
27	chr2:11436800-11438400	Enhancers	K562	blood
28	chr2:11437000-11443200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:11438000-11443200	Weak transcription	Fetal Heart	heart

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