Variant report

Variant	rs9992608
Chromosome Location	chr4:111028053-111028054
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:111027821..111029786-chr4:111115115..111116901,2	MCF-7	breast:
2	chr4:111026921..111029584-chr4:111032087..111034915,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10011926	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10012789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10012828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10018930	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10032613	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10033229	0.98[ASN][1000 genomes]
rs10034148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1034668	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11937187	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13435887	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1468219	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1482469	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1964208	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1964209	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1964210	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1964211	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2057695	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2106995	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28730909	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3733623	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4698810	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6850449	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs718815	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718816	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7655273	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7668562	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7668795	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7669237	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7674189	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869392	chr4:110945459-111235071	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:111011000-111040200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:111013000-111040400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:111013600-111040400	Weak transcription	Fetal Kidney	kidney
4	chr4:111020600-111028600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:111023400-111029600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:111023800-111037000	Weak transcription	Primary T cells from cord blood	blood
7	chr4:111024200-111049800	Weak transcription	Fetal Stomach	stomach
8	chr4:111026000-111061000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:111026200-111028400	Enhancers	Brain Germinal Matrix	brain
10	chr4:111026400-111037400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:111026400-111041200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:111026400-111046000	Weak transcription	Left Ventricle	heart
13	chr4:111026400-111049200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:111026600-111034000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr4:111026600-111040000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:111026600-111040000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:111026600-111040000	Weak transcription	Dnd41	blood
18	chr4:111026800-111028200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:111027000-111028600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:111027200-111028600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr4:111027200-111029600	Enhancers	Stomach Mucosa	stomach
22	chr4:111027200-111030200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr4:111027400-111028200	Enhancers	Fetal Heart	heart
24	chr4:111027400-111028400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr4:111027400-111028600	Enhancers	HMEC	breast
26	chr4:111027400-111028600	Enhancers	NH-A	brain
27	chr4:111027400-111028800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:111027400-111031400	Enhancers	Osteobl	bone
29	chr4:111027600-111028200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:111027600-111028600	Enhancers	H9 Cell Line	embryonic stem cell
31	chr4:111027600-111028600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:111027600-111028600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:111027600-111028600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:111027600-111028600	Enhancers	Brain Angular Gyrus	brain
35	chr4:111027600-111028600	Enhancers	Small Intestine	intestine
36	chr4:111027600-111028600	Enhancers	NHLF	lung
37	chr4:111027600-111029000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:111027600-111029400	Enhancers	Hela-S3	cervix
39	chr4:111027600-111029800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:111027600-111029800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:111027600-111030000	Enhancers	NHEK	skin
42	chr4:111027600-111030200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr4:111027600-111031200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:111027600-111031400	Enhancers	NHDF-Ad	bronchial
45	chr4:111027800-111028200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:111027800-111028200	Enhancers	Brain Cingulate Gyrus	brain
47	chr4:111027800-111028400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:111027800-111028400	Enhancers	HSMMtube	muscle
49	chr4:111027800-111028600	Enhancers	H1 Cell Line	embryonic stem cell
50	chr4:111027800-111028600	Enhancers	Brain Inferior Temporal Lobe	brain

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