Variant report

Variant	rs10192254
Chromosome Location	chr2:46955599-46955600
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46925799..46928213-chr2:46954632..46957949,3	MCF-7	breast:
2	chr2:46924166..46927063-chr2:46954511..46956306,2	K562	blood:
3	chr2:46921430..46924294-chr2:46954187..46957185,2	MCF-7	breast:
4	chr2:46954874..46956811-chr2:46963158..46965367,2	K562	blood:

Variant related genes	Relation type
ENSG00000171150	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10187320	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10196768	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10204610	0.85[ASN][1000 genomes]
rs10221923	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10439427	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10439469	0.94[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12151534	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12329330	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs13391877	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13402099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412085	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13420535	0.94[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs13421701	0.87[AFR][1000 genomes]
rs13424717	0.94[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs13426735	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13432741	0.94[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs17770970	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17771838	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35750425	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
6	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1013079	chr2:46949337-46998417	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46945400-46985400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:46947600-46975600	Weak transcription	HSMM	muscle
3	chr2:46948200-46955800	Weak transcription	Lung	lung
4	chr2:46948200-46956600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:46948200-46962000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:46948200-46964400	Weak transcription	NHEK	skin
7	chr2:46948200-46967400	Weak transcription	Esophagus	oesophagus
8	chr2:46948200-46974600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:46948200-46977200	Weak transcription	Aorta	Aorta
10	chr2:46948400-46961600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:46948600-46964200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:46948600-46964400	Weak transcription	NH-A	brain
13	chr2:46948600-46974400	Weak transcription	Fetal Stomach	stomach
14	chr2:46949600-46958400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:46950800-46958200	Weak transcription	NHLF	lung
16	chr2:46950800-46975400	Weak transcription	Fetal Lung	lung
17	chr2:46951400-46962200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:46951800-46959000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:46952000-46961800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:46952600-46956400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:46952600-46962000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:46952800-46957800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:46953000-46957800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:46953400-46955600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr2:46953400-46964400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:46954400-46955600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr2:46954400-46955800	Genic enhancers	NHDF-Ad	bronchial
28	chr2:46954400-46957000	Genic enhancers	Osteobl	bone
29	chr2:46954600-46955600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:46954600-46955600	Enhancers	Colon Smooth Muscle	Colon
31	chr2:46954600-46955600	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr2:46954600-46956000	Enhancers	Stomach Smooth Muscle	stomach
33	chr2:46954600-46956200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:46954600-46956200	Enhancers	Left Ventricle	heart
35	chr2:46954600-46956200	Enhancers	Right Ventricle	heart
36	chr2:46955000-46955600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:46955000-46955800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:46955000-46956000	Enhancers	Ovary	ovary
39	chr2:46955000-46957800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:46955000-46958000	Weak transcription	Fetal Intestine Small	intestine
41	chr2:46955000-46975400	Weak transcription	Small Intestine	intestine
42	chr2:46955200-46958000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:46955200-46958000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr2:46955200-46958600	Weak transcription	Primary T cells from cord blood	blood
45	chr2:46955200-46958600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr2:46955200-46958600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:46955200-46959400	Weak transcription	HepG2	liver
48	chr2:46955200-46961800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:46955200-46964600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:46955200-46967600	Weak transcription	Thymus	Thymus

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