Variant report

Variant	rs4660829
Chromosome Location	chr1:45468631-45468632
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45466176..45467776-chr1:45467983..45470171,2	MCF-7	breast:
2	chr1:45284388..45285918-chr1:45466927..45469619,2	MCF-7	breast:
3	chr1:45187000..45190242-chr1:45468386..45470693,3	K562	blood:
4	chr1:45467917..45470543-chr1:45471349..45473088,2	MCF-7	breast:
5	chr1:45284681..45289780-chr1:45466475..45469909,5	MCF-7	breast:
6	chr1:45281186..45291350-chr1:45463934..45483092,44	K562	blood:
7	chr1:45450854..45457330-chr1:45465047..45472849,14	K562	blood:

Variant related genes	Relation type
ENSG00000202444	Chromatin interaction
ENSG00000117425	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000232369	Chromatin interaction
ENSG00000070785	Chromatin interaction
ENSG00000198520	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1007005	1.00[AMR][1000 genomes]
rs10749853	1.00[AFR][1000 genomes]
rs10749855	1.00[AFR][1000 genomes]
rs10789453	0.82[AFR][1000 genomes]
rs1561794	1.00[AMR][1000 genomes]
rs174638	1.00[AMR][1000 genomes]
rs174639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1892476	1.00[AMR][1000 genomes]
rs2211646	1.00[AMR][1000 genomes]
rs264012	1.00[AMR][1000 genomes]
rs264016	1.00[AMR][1000 genomes]
rs264017	1.00[AMR][1000 genomes]
rs264018	1.00[AMR][1000 genomes]
rs2883814	1.00[AMR][1000 genomes]
rs35710243	1.00[AMR][1000 genomes]
rs418302	1.00[AMR][1000 genomes]
rs425780	1.00[AMR][1000 genomes]
rs492515	1.00[AMR][1000 genomes]
rs57755658	1.00[AMR][1000 genomes]
rs58600794	1.00[AMR][1000 genomes]
rs58829168	1.00[AMR][1000 genomes]
rs59682873	1.00[AMR][1000 genomes]
rs60123910	1.00[AMR][1000 genomes]
rs61542654	1.00[AMR][1000 genomes]
rs6429553	1.00[AFR][1000 genomes]
rs6666857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6698485	1.00[AFR][1000 genomes]
rs7512216	0.87[AFR][1000 genomes]
rs7515390	1.00[AFR][1000 genomes]
rs7533668	1.00[AFR][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	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45452800-45475200	Weak transcription	Right Atrium	heart
2	chr1:45465000-45470200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:45466000-45469600	Weak transcription	Hela-S3	cervix
4	chr1:45466600-45469600	Weak transcription	HUVEC	blood vessel
5	chr1:45466600-45470000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:45466600-45474800	Strong transcription	Fetal Brain Female	brain
7	chr1:45466600-45475000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:45466800-45469000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:45466800-45469600	Weak transcription	HSMMtube	muscle
10	chr1:45466800-45470000	Weak transcription	HMEC	breast
11	chr1:45466800-45470200	Weak transcription	NHDF-Ad	bronchial
12	chr1:45466800-45475000	Strong transcription	Duodenum Mucosa	Duodenum
13	chr1:45466800-45475200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:45466800-45475200	Strong transcription	Primary T cells from cord blood	blood
15	chr1:45466800-45475200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:45466800-45475200	Strong transcription	Fetal Stomach	stomach
17	chr1:45467000-45470400	Weak transcription	Fetal Kidney	kidney
18	chr1:45467000-45473200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:45467000-45474400	Strong transcription	Fetal Muscle Trunk	muscle
20	chr1:45467000-45474800	Strong transcription	Colonic Mucosa	Colon
21	chr1:45467000-45475200	Strong transcription	NHLF	lung
22	chr1:45467000-45475400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:45467000-45475400	Weak transcription	Psoas Muscle	Psoas
24	chr1:45467000-45476400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:45467200-45468800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:45467200-45470000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:45467200-45470000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr1:45467200-45474400	Strong transcription	Brain Germinal Matrix	brain
29	chr1:45467200-45475200	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr1:45467400-45474800	Strong transcription	Fetal Muscle Leg	muscle
31	chr1:45467400-45474800	Strong transcription	Spleen	Spleen
32	chr1:45467400-45475000	Strong transcription	Esophagus	oesophagus
33	chr1:45467400-45475200	Strong transcription	Lung	lung
34	chr1:45467400-45475200	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr1:45467400-45475400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:45467400-45475400	Strong transcription	Fetal Thymus	thymus
37	chr1:45467400-45475400	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:45467600-45472400	Strong transcription	NHEK	skin
39	chr1:45467600-45473800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr1:45467600-45474000	Strong transcription	Stomach Smooth Muscle	stomach
41	chr1:45467600-45474600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:45467600-45474600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:45467600-45474800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:45467600-45474800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr1:45467600-45474800	Strong transcription	Brain Angular Gyrus	brain
46	chr1:45467600-45474800	Strong transcription	Placenta	Placenta
47	chr1:45467600-45474800	Strong transcription	Ovary	ovary
48	chr1:45467600-45475000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:45467600-45475000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:45467600-45475000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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