Variant report

Variant	rs702464
Chromosome Location	chr2:74361641-74361642
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74357697..74362841-chr2:74424131..74428670,5	K562	blood:
2	chr2:74347518..74349564-chr2:74361288..74362886,2	MCF-7	breast:
3	chr2:74360981..74362934-chr2:74373468..74376245,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257800	Chromatin interaction
ENSG00000065911	Chromatin interaction
ENSG00000225439	Chromatin interaction
ENSG00000163170	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1026150	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1095969	0.96[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1095970	0.85[ASN][1000 genomes]
rs11675066	0.80[EUR][1000 genomes]
rs12465641	0.86[JPT][hapmap]
rs12996870	0.84[ASN][1000 genomes]
rs13025827	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1667615	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1667616	0.96[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1667622	0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs1723283	0.85[ASN][1000 genomes]
rs1723284	0.85[ASN][1000 genomes]
rs1723290	0.85[ASN][1000 genomes]
rs2122290	0.86[JPT][hapmap]
rs2280642	0.86[JPT][hapmap]
rs2421753	0.85[ASN][1000 genomes]
rs3099822	0.86[ASN][1000 genomes]
rs3099823	0.86[ASN][1000 genomes]
rs3108161	0.87[ASN][1000 genomes]
rs3108162	0.86[ASN][1000 genomes]
rs4429500	0.82[JPT][hapmap]
rs4452177	0.85[JPT][hapmap]
rs6707619	0.83[JPT][hapmap]
rs6758220	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs702463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs828841	0.96[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs828843	0.89[ASN][1000 genomes]
rs828845	0.89[ASN][1000 genomes]
rs828846	0.89[ASN][1000 genomes]
rs828847	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs828848	0.87[ASN][1000 genomes]
rs828850	0.86[ASN][1000 genomes]
rs828867	0.90[JPT][hapmap]
rs828897	0.84[ASN][1000 genomes]
rs828898	0.83[ASN][1000 genomes]
rs828901	0.85[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	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
3	nsv525117	chr2:74358901-74374641	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74348200-74367600	Weak transcription	Brain Anterior Caudate	brain
2	chr2:74348600-74361800	Weak transcription	Hela-S3	cervix
3	chr2:74354400-74373800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:74355200-74373800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:74357600-74361800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:74357600-74361800	Weak transcription	Right Ventricle	heart
7	chr2:74357600-74373800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:74357800-74361800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:74357800-74367600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:74357800-74373600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:74358200-74364800	Weak transcription	Esophagus	oesophagus
12	chr2:74358200-74373800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:74358600-74367800	Weak transcription	Osteobl	bone
14	chr2:74358600-74368800	Weak transcription	NHDF-Ad	bronchial
15	chr2:74358800-74362000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:74358800-74373800	Weak transcription	HUVEC	blood vessel
17	chr2:74359200-74361800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:74359200-74373600	Weak transcription	Fetal Heart	heart
19	chr2:74359400-74362400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:74359400-74362600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:74359400-74367600	Weak transcription	HSMM	muscle
22	chr2:74359400-74373600	Weak transcription	Primary B cells from cord blood	blood
23	chr2:74359600-74373400	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:74359600-74373800	Weak transcription	Small Intestine	intestine
25	chr2:74359800-74373600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:74359800-74373600	Weak transcription	NH-A	brain
27	chr2:74360000-74369800	Weak transcription	Colonic Mucosa	Colon
28	chr2:74360200-74373600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:74360400-74362200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:74360400-74362200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:74360400-74362200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:74360400-74362200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:74360400-74362200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:74360400-74362200	Strong transcription	Brain Substantia Nigra	brain
35	chr2:74360400-74362200	Strong transcription	Fetal Lung	lung
36	chr2:74360400-74362200	Strong transcription	A549	lung
37	chr2:74360400-74362400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:74360400-74362400	Strong transcription	Brain Hippocampus Middle	brain
39	chr2:74360400-74362600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:74360400-74362600	Strong transcription	Primary T cells from cord blood	blood
41	chr2:74360400-74362600	Strong transcription	Brain Germinal Matrix	brain
42	chr2:74360400-74362800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:74360400-74362800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:74360400-74362800	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr2:74360400-74362800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr2:74360400-74362800	Strong transcription	Stomach Smooth Muscle	stomach
47	chr2:74360400-74363000	Strong transcription	Fetal Brain Female	brain
48	chr2:74360400-74363400	Strong transcription	Fetal Stomach	stomach
49	chr2:74360400-74363400	Strong transcription	Dnd41	blood
50	chr2:74360400-74366600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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