Variant report

Variant	rs7574168
Chromosome Location	chr2:149371584-149371585
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:149366818..149368565-chr2:149369705..149372516,2	MCF-7	breast:
2	chr2:149371306..149373545-chr2:149401234..149403326,2	MCF-7	breast:
3	chr2:149370215..149372318-chr2:149401556..149403529,3	K562	blood:
4	chr2:149366286..149369702-chr2:149370979..149374487,6	K562	blood:
5	chr2:149368855..149371718-chr2:149401753..149403322,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135999	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10165986	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10171728	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10177983	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10181555	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10181614	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10190474	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10200061	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10204718	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497035	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10928401	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10928402	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10928408	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11687034	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687783	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11688979	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12691801	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13016446	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13407240	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13427633	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16828908	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16828910	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2382230	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28533220	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3936439	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4450539	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4624325	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4972282	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4972374	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6430322	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6430326	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6716704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736226	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6736270	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6736369	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6739607	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6747262	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6750878	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7574666	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs769079	0.86[ASN][1000 genomes]
rs921242	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs921243	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9636222	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv868861	chr2:149198443-149434604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1004663	chr2:149214090-149373061	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1827161	chr2:149352353-149475737	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149368200-149371600	Weak transcription	Right Atrium	heart
2	chr2:149368400-149372000	Weak transcription	Pancreas	Pancrea
3	chr2:149371000-149372400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:149371000-149372400	Enhancers	Left Ventricle	heart
5	chr2:149371000-149372600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:149371000-149372800	Enhancers	Hela-S3	cervix
7	chr2:149371000-149373600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:149371000-149373600	Enhancers	Placenta	Placenta
9	chr2:149371000-149373800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:149371000-149374000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:149371000-149374600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:149371000-149374800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:149371200-149371600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:149371200-149371600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:149371200-149371600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr2:149371200-149372400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:149371200-149372400	Enhancers	Lung	lung
18	chr2:149371200-149373600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr2:149371200-149373600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr2:149371200-149373600	Enhancers	Fetal Muscle Leg	muscle
21	chr2:149371200-149374800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:149371200-149374800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:149371200-149374800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:149371400-149371600	Enhancers	Brain Hippocampus Middle	brain
25	chr2:149371400-149371600	Enhancers	Stomach Smooth Muscle	stomach
26	chr2:149371400-149371800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:149371400-149371800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:149371400-149371800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:149371400-149371800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr2:149371400-149371800	Enhancers	Spleen	Spleen
31	chr2:149371400-149371800	Enhancers	Osteobl	bone
32	chr2:149371400-149372000	Enhancers	Fetal Heart	heart
33	chr2:149371400-149372000	Enhancers	K562	blood
34	chr2:149371400-149372000	Enhancers	NHEK	skin
35	chr2:149371400-149372400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:149371400-149372400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:149371400-149372600	Enhancers	HepG2	liver
38	chr2:149371400-149373000	Enhancers	Brain Anterior Caudate	brain
39	chr2:149371400-149373000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr2:149371400-149373200	Enhancers	NH-A	brain
41	chr2:149371400-149373400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:149371400-149373400	Enhancers	Primary B cells from peripheral blood	blood
43	chr2:149371400-149373400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:149371400-149373400	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr2:149371400-149373600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr2:149371400-149373600	Enhancers	Colon Smooth Muscle	Colon
47	chr2:149371400-149373600	Enhancers	Fetal Lung	lung
48	chr2:149371400-149373600	Enhancers	HMEC	breast
49	chr2:149371400-149373800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:149371400-149373800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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